Département CNS/NET

Message non reçu : lorsque le système nerveux et le système endocrinien communiquent mal

L’essentiel de la communication dans notre organisme est orchestrée par deux systèmes majeurs: le système nerveux et le système endocrinien.

Le système nerveux permet de transmettre des messages rapidement le long de neurones depuis le cerveau ou la moelle épinière jusqu’aux différentes parties du corps. Il contrôle tous les mouvements volontaires et involontaires qui assurent le fonctionnement de base de l’organisme. Le système endocrinien, lui, utilise des hormones pour transmettre des message sur le plus long terme qui servent à affiner nombre de fonctions telles que la digestion, la pression artérielle, la croissance, la reproduction ou encore la lactation. Ces deux systèmes de communication s’entremêlent au niveau de l’hypothalamus, une structure à la base du cerveau antérieur qui intègre des messages entrants du système nerveux et contrôle l’hypophyse, la glande mère du système endocrinien. Un grand nombre de maladies génétiques rares affectent les sytèmes nerveux et endocrinien et sont à l’origine respectivement de déficiences intellectuelles (comme le syndrome de Rett et plusieurs encéphalopathies épileptiques précoces) et de déséquilibres hormonaux, qui affectent grand nombre de fonctions de l‘organisme.

Les chercheurs et cliniciens du département CNS/NET contribuent largement à améliorer la compréhension et le diagnostic des maladies rares des systèmes nerveux et neuroendocrinien. Ils ont amplement déchiffré leurs causes génétiques, explorent actuellement les mécanismes responsables de leurs manifestations pathologiques et développent des pistes thérapeutiques qui dores et déjà s’annoncent prometteuses.

Le département CNS/NET rallie un ensemble unique de compétences allant de l’expertise clinique au chevet des patients  à la recherche préclinique, en passant par la maîtrise de la génétique moléculaire, la neurophysiologie et la neuroendocrinologie. Ce rassemblement de forces a déjà permis au département d ‘atteindre d’importantes avancées scientifiques et d’accélérer leur entrée en phase de développement clinique pour le traitement des patients.



Mieux comprendre les maladies du neurodéveloppement

La déficience intellectuelle (DI) se caractérise par d’importantes limitations du fonctionnement intellectuel et des habiletés adaptatives d’un individu, c’est à dire sa responsabilité sociale et sa capacité à accomplir les tâches du quotidien de manière indépendante.  Ce handicap concerne près de 3% de la population représentant ainsi un problème majeur de santé publique à travers le monde. Des progrès considérables ont été accomplis en termes de diagnostic au cours des vingt dernières années, mais 50% des patients atteints de DIs restent encore dans l’errance diagnostique. Pour pallier cette défaillance,  l’équipe de Laurent Villard, entre autres, est à la recherche des causes génétiques de ces affections. A ce jour, ils ont déjà identifié plusieurs nouveaux gènes responsables de DIs et ont amplement éclairci la compréhension des mécanismes pahologiques liés à des mutations dans ces gènes.

Une cohorte unique de 1300 patients

Les scientifiques s’intéressent tout particulièrement aux encéphalopathies épileptiques et développementales (DEE). Pour réussir à mieux les diagnostiquer, ils ont entrepris de constituer une cohorte importante qui aujourd’hui rassemble 1300 patients. Cet effort a déjà porté ses fruits puisqu’il a permis d’identifier plusieurs gènes associés à de EEP, et de confirmer que le gène KCNQ2 est le gène le plus fréquemment muté.

« Des mutations du gène KCNQ2 avaient jusqu’alors été associées au syndrome des convulsions néonatales bénignes familiales (BFNC), une forme rare d’épilepsie qui survient chez le nouveau-né mais dont le pronostic est habituellement bon ; les convulsions disparaissent avec l’âge, les patients ne présentent pas d’anomalies neurologiques, et leur développement neurocognitif est normal », explique Mathieu Milh, le neurologue responsable des aspects cliniques de ce projet dans le laboratoire de Laurent Villard.  « Ce fut une grande surprise que de découvrir que KCNQ2 est un gène important dans les EEP : nous avons identifié en tout 68 mutations différentes du gène dans notre cohorte ».

KCNQ2 code pour une protéine qui participe à la formation de canaux potassiques dans les neurones et qui est donc cruciale pour assurer la communication dans le cerveau. Les chercheurs ont établi des collaborations avec INMED (Inserm U1249) et l'Institut des Neurosciences de La Timone (CNRS) pour tenter de comprendre au niveau cellulaire en quoi ces deux populations de patients sont différentes, et pourquoi alors que certaines mutations provoquent une affection « légère » de type BFNC, d’autres mutations du même gène conduisent à des EEP, qui elles sont beaucoup plus sévères.  Le but ultime de ce projet est de pouvoir proposer aux patients atteints d’EEP des traitements pharmacologiques efficaces qui pour l’instant sont inexistants. Ces projets ont été soutenus par l'ANR, et le sont à nouveau en 2019 avec le projet IMprove qui a débuté à l'automne 2019 (AAPG 2019).

L’initiative est bien plus avancée dans le domaine du syndrome de Rett, une déficience intellectuelle qui occupe les chercheurs dans le laboratoire de Laurent Villard depuis plusieurs années.

Le syndrome de Rett : une maladie neurologique rare

Le Syndrome de Rett (RTT) est une déficience intellectuelle grave décrite pour la première fois par le pédiatre autrichien Andreas Rett. Il se caractérise par un développement cérébral normal jusqu’à l’âge de 6 à 18 mois, âge à partir duquel ce développement commence à régresser pour finalement s’arrêter. Alors qu’une déficience intellectuelle sévère s’installe, le périmètre crânien cesse de progresser normalement, provoquant ainsi une microcéphalie acquise. Les patientes, qui sont dans leur quasi-totalité des filles, perdent progressivement leurs acquis, tels que la marche ou le langage. Elles font également face à des complications supplémentaires, problèmes moteurs, épilepsies, convulsions et troubles respiratoires à l’origine d’épisodes d’hyperventilations et d’apnées.  

En 1999, le laboratoire de Huda Zoghbi (Houston, Texas, États-Unis) découvre le gène responsable pour la plupart des cas de RTT, le gène MECP2, qui se situe au niveau du chromosome X, en position Xq28. Depuis, le laboratoire de Laurent Villard a entrepris une recherche exhaustive de mutations dans ce même gène parmi un ensemble de patients français, et a démontré que des mutations de MECP2 sont également à l’origine d’autres types de DIs, y compris des cas d’encéphalopathies sévères touchant les garçons.

Des mécanisme moléculaire aux traitements pour les patients RTT

Afin de mieux comprendre les mécanismes moléculaires qui déclenchent le syndrome de Rett, Laurent Villard et ses collaborateurs s’intéressent depuis des années à un modèle murin de la maladie développé dans le laboratoire d’Adrian Bird (Edinburgh, Royaume-Uni). Leurs découvertes constitutent des avancées majeures dans le domaine qui ont permis de développer de potentielles voies thérapeutiques prometteuses pour le traitement des patients RTT.

Les chercheurs ont remarqué que les souris Mecp2 présentaient des troubles respiratoires similaires à ceux des patients RTT. Ils ont noté que ces troubles étaient liés à une diminution des niveaux d’un neuromédiateur appelé norépinéphrine (NE) au niveau de la medulla, l’aire du cerveau qui contient les centres respiratoires. À l’époque, cette découverte fut la première description in vivo d’un défaut cellulaire lié à l’absence de Mecp2. De plus, leurs premières recherches suggéraient que les troubles respiratoires pouvaient être corrigés par ajout de NE exogène. L’équipe a donc tenté de provoquer une augmentation des niveaux de NE chez les animaux, en traitant les souris à la désipramine, un composant chimique normalement utilisée pour traiter des patients dépressifs.

« Nous avons administré une dose quotidienne de désipramine aux souris, et avons remarqué non seulement une amélioration des troubles respiratoires, mais également de leur espérance de vie », rapporte Jean-Christophe Roux, en charge du projet Rett dans le laboratoire de Laurent Villard. « À partir de ces résultats très positifs, nous avons initié un essai clinique en collaboration avec le Professeur Josette Mancini de l’Hôpital La Timone à Marseille, pour étudier les effets d’un traitement à la désipramine sur des enfants atteints de Rett ». Les résultats de cet essai clinique de phase II ont été publiés en 2018.

Plus récemment, les chercheurs ont identifié dans les neurones des souris Mecp2 des défauts de transport du BDNF, un facteur crucial pour la croissance et la survie neuronales, ainsi que pour l’établissement de connexions entre neurones. Ils ont démontré qu’une augmentation de la sécrétion de BDNF, en utilisant un composé chimique appelé cysteamine, induit une amélioration significative des défauts moteurs chez les souris RTT et une augmentation de leur espérance de vie. Cette importante découverte est maintenant entrée dans la clinique où un deuxième essai de phase II est en cours pour déterminer l’efficacité d’une traitement à la cystéamine chez des patients Rett.

Ces investigations cherchant à comprendre les dysfonctionnement moléculaires dans le Syndrome de Rett ce sont avérés fructueuses. En effet, en plus de des deux essais décrits ci-dessus, l’équipe de Laurent Villard explore de nouvelles pistes qui semblent prometteuses et offrent des perspectives solides en termes de développement de traitements thérapeutiques.  

Les maladies neuroendocriniennes sont dues à une hyper- ou à une hyposécrétion d’hormones par les glandes endocriniennes. Alors que les maladies liées à une hypersécrétion sont pour la plupart dues à des tumeurs bénignes non-cancéreuses, les maladies liées à une hyposécrétion, appelées déficits hormonaux, peuvent avoir des origines bien différentes. Ces troubles peuvent toucher n’importe quelle glande endocrinienne, mais ceux qui affectent l’hypophyse, la glande mère du système endocrinien, présentent un éventail de conséquences bien plus large sur différentes fonctions biologiques. Dans l’idée de proposer de nouveaux traitements thérapeutiques, le laboratoire de Thierry Brue explore les causes génétiques et les mécanismes moléculaires qui sont à la base des troubles neuroendocriniens. Les chercheurs s’intéressent tout particulièrement au déficit hypophysaire combiné multiple (CPHD : Combined Pituitary Hormone deficiency), pour lequel ils ont dores et déjà identifié un grand nombre de gènes  et de mutations responsables, en partie grâce à la constitution d’une collection internationale d’échantillons ADN provenant de 1200 patients (GENHYPOPIT).

Troubles neuroendocriniens : la clé est dans la balance

«  L’analyse détaillée des échantillons ADN du réseau GENHYPOPIT nous a permis de découvrir un nouveau syndrome qui combine un déficit hormonal à un déficit immunitaire commun variable caractérisé par un défaut dans la production d’anticorps » déclare Thierry Brue. « Nous avons baptisé ce syndrome DAVID, pour ‘Deficit in Anterior pituitary function and Variable Immune Deficiency’ ». Le gène responsable du syndrome de DAVID s’appelle NFKB2 et code pour une sous-unité du complexe NFkB, un facteur de transcription important qui active l’expression d’un nombre de gènes dans les réponses inflammatoires et immunitaires.

En parallèle, le laboratoire s’intéresse également à l’étude des tumeurs neuroendocriniennes (TNE) pour comprendre les signaux qui y entraînent une augmentation de la sécrétion d’hormones. L’équipe a jusqu’à présent identifié plusieurs facteurs impliqués aussi bien dans le CPHD que dans les TNE, mais sur lesquels ils ont des effets opposés. C ‘est le cas du récepteur de l’hormone de croissance (GHR), du récepteur ghréline (GHS-R) , ou encore de Pit-1, un facteur de transcription important pour le développement hypophysaire et  l’expression d’hormones.

Les deux faces de Pit-1

Le gène PIT-1 avait historiquement été impliqué aussi bien à des cas de nanisme que dans des cas de gigantisme. Ce gène code pour un facteur de transcription clé dans la différentiation des cellules endocriniennes et régule l’expression d’hormones telles que l’hormone de croissance ou la prolactine (impliquées respectivement dans la croissance et la lactation).  En 2006, alors que des mutations dans le gène avaient déjà été associées à des cas de CPHD, Thierry Brue, Anne Barlier et leurs collaborateurs démontrent l’implication de PIT-1 cette fois-ci dans les TNE dans lesquelles il agit en facteur de croissance. L’équipe décide alors d’exploiter ces deux faces du rôle de PIT-1 dans le déficits hormonaux et les TNE, et développe une approche de thérapie génique utilisant une version muté de PIT-1 identifiée chez des patients CPHD, Pit-1-R271W, pour traiter l’hypersécrétion et la croissance tumorale dans le syndrome opposé, les tumeurs neuroendocriniennes.

«  Nos résultats montrent que le mutant Pit1-R271W bloque l’hypersécrétion hormonale de cellules issues de TNE et induit la mort cellulaire aussi bien in vitro que in vivo chez la souris » décrit Anne Barlier, en charge de ce projet dans le laboratoire de Thierry Brue. « Cette stratégie pourrait s’avérer prometteuse pour le traitement de tumeurs de l‘hypophyse par thérapie génique »

En plus de poursuivre la recherche de mutations génétiques liées à des maladies neuroendocriniennes, les chercheurs mobilisent actuellement leurs efforts pour établir de nouveaux modèles cellulaire qui permettraient de mieux comprendre ces troubles, ainsi que pour développer de nouvelles stratégies thérapeutiques.

Soghomonian, A.  et al. 2022

Letter to the Editor from Soghomonian et al.: "Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome".


J Clin Endocrinol Metab - issue: 1 - volume: 107 - pages: e434-e435.

Wilmerding, A.  et al. 2021

Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

The MAPK/ERK pathway regulates a variety of physiological cellular functions, including cell proliferation and survival. It is abnormally activated in many types of human cancers in response to driver...
Neoplasia - issue: 2 - volume: 24 - pages: 120-132.

Brue, T.  et al. 2021

Cost-Utility of Acromegaly Pharmacological Treatments in a French Context.

OBJECTIVE: Efficacy of pharmacological treatments for acromegaly has been assessed in many clinical or real-world studies but no study was interested in economics evaluation of these treatments in...
Front Endocrinol (Lausanne) - issue: - volume: 12 - pages: 745843.

Etchevers, HC.  et al. 2021

Pericyte Ontogeny: The Use of Chimeras to Track a Cell Lineage of Diverse Germ Line Origins.

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: - volume: 2235 - pages: 61-87.

Molines, E.  et al. 2021

[BRAF mutation evolution in melanoma: Myth or reality?].

Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated...
Ann Pathol - issue: - volume: - pages: .

Amodru, V.  et al. 2021

Synergistic cortisol suppression by ketoconazole-osilodrostat combination therapy.

SUMMARY: Here, we describe a case of a patient presenting with adrenocorticotrophic hormone-independent Cushing's syndrome in a context of primary bilateral macronodular adrenocortical hyperplasia....
Endocrinol Diabetes Metab Case Rep - issue: - volume: 2021 - pages: .

Fleseriu, M.  et al. 2021

Consensus on diagnosis and management of Cushing's disease: a guideline update.

Cushing's disease requires accurate diagnosis, careful treatment selection, and long-term management to optimise patient outcomes. The Pituitary Society convened a consensus workshop comprising more...
Lancet Diabetes Endocrinol - issue: 12 - volume: 9 - pages: 847-875.

Barraud, S.  et al. 2021

Pegvisomant treatment in acromegaly in clinical practice: Final results of the French ACROSTUDY (312 patients).

OBJECTIVE: We report the final analysis of the French ACROSTUDY, using data revised and enriched since the 2013 interim analysis. Our objective was to validate the use of pegvisomant (PEGV) in the...
Ann Endocrinol (Paris) - issue: 6 - volume: 82 - pages: 582-589.

Castinetti, F.  et al. 2021

Lack of delayed neurocognitive side effects of Gamma Knife radiosurgery in acromegaly: the Later-Ac study.

INTRODUCTION: Persistent growth hormone hypersecretion can be observed in roughly 50% of patients operated for somatotroph adenomas, requiring additional treatments. Despite its proven antisecretory...
Eur J Endocrinol - issue: 1 - volume: 186 - pages: 37-44.

Le Bras, M.  et al. 2021

Pituitary adenoma in patients with multiple endocrine neoplasia type 1: a cohort study.

OBJECTIVE: Pituitary adenoma (PA) is one of the three major components of multiple endocrine neoplasia type 1 (MEN1). Recent studies have suggested that MEN1-associated PAs are less aggressive than...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: 863-873.

Brue, T.  et al. 2021

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform.

Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: C19-C25.

Raverot, G.  et al. 2021

Aggressive pituitary tumours and pituitary carcinomas.

Although usually benign, anterior pituitary tumours occasionally exhibit aggressive behaviour, with invasion of surrounding tissues, rapid growth, resistance to conventional treatments and multiple...
Nat Rev Endocrinol - issue: 11 - volume: 17 - pages: 671-684.

Kervarrec, T.  et al. 2021

Reply to: Expanding the Spectrum of Primary Cutaneous Carcinoma With BRD3-NUTM1 Fusion.


Am J Surg Pathol - issue: 11 - volume: 45 - pages: 1584-1586.

Graillon, T.  et al. 2021

Meningiomas in patients with long-term exposition to progestins: Characteristics and outcome.

OBJECTIVE: The aim of this study was to describe progestin-associated meningiomas' characteristics, outcome and management. MATERIAL AND METHODS: We included 53 patients operated on and/or followed...
Neurochirurgie - issue: 6 - volume: 67 - pages: 556-563.

Fledderus, AC.  et al. 2021

Domains and outcomes of the core outcome set of congenital melanocytic naevi for clinical practice and research (the OCOMEN project): part 2.

BACKGROUND: Congenital melanocytic naevi (CMN) can have a great impact on patients' lives owing to perceived stigmatization, and the risk of melanoma development and neurological complications....
Br J Dermatol - issue: 5 - volume: 185 - pages: 970-977.

Lasbleiz, A.  et al. 2021

Familial hypocalciuric hypercalcemia: the challenge of diagnosis.


Endocrine - issue: - volume: - pages: .

Fourneaux, R.  et al. 2021

Acromegaly in remission: a view from the partner.

OBJECTIVE: A relative can be an asset in dealing with chronic illnesses, such as acromegaly, where quality of life (QoL) is altered even after remission. However, it has been shown that quality of...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: K21-K25.

d'Artigues, J.  et al. 2021

Fully endoscopic endonasal approach for the treatment of intrasellar arachnoid cysts.

PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC...
Pituitary - issue: - volume: - pages: .

Maraninchi, M.  et al. 2021

Role of growth hormone in hepatic and intestinal triglyceride-rich lipoprotein metabolism.

BACKGROUND: Elevated plasma concentrations of hepatic- and intestinally-derived triglyceride-rich lipoproteins (TRL) are implicated in the pathogenesis of atherosclerotic cardiovascular disease and...
J Clin Lipidol - issue: 5 - volume: 15 - pages: 712-723.

Kervarrec, T.  et al. 2021

Reevaluation of GLI1 Expression in Skin Tumors.


Am J Dermatopathol - issue: 10 - volume: 43 - pages: 759-761.

Haniffa, M.  et al. 2021

A roadmap for the Human Developmental Cell Atlas

The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

Haniffa, M.  et al. 2021

A roadmap for the Human Developmental Cell Atlas.

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

Macagno, N.  et al. 2021

NUT Is a Specific Immunohistochemical Marker for the Diagnosis of YAP1-NUTM1-rearranged Cutaneous Poroid Neoplasms.

YAP1-NUTM1 fusion transcripts have been recently reported in poroma and porocarcinoma. NUTM1 translocation can be screened by nuclear protein in testis (NUT) immunohistochemistry in various...
Am J Surg Pathol - issue: 9 - volume: 45 - pages: 1221-1227.

Ben Aim, L.  et al. 2021

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: - volume: - pages: .

Fleseriu, M.  et al. 2021

More than a decade of real-world experience of pegvisomant for acromegaly: ACROSTUDY.

OBJECTIVE: To report the final long-term safety and efficacy analyses of patients with acromegaly treated with pegvisomant from the ACROSTUDY. DESIGN: Global (15 countries), multicentre,...
Eur J Endocrinol - issue: 4 - volume: 185 - pages: 525-538.

Moog, S.  et al. 2021

Recurrence-Free Survival Analysis in Locally Advanced Pheochromocytoma: First Appraisal.

CONTEXT: The behavior of locally advanced pheochromocytoma (LAP) remains unknown. OBJECTIVE: We characterized the population with LAP and recurrence-free survival (RFS). METHODS: This retrospective...
J Clin Endocrinol Metab - issue: 9 - volume: 106 - pages: 2726-2737.

Gergics, P.  et al. 2021

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator....
Am J Hum Genet - issue: 8 - volume: 108 - pages: 1526-1539.

de la Fouchardi, .  et al. 2021

Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities.

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology (Basel) - issue: 3 - volume: 8 - pages: 301-314.

Malissen, N.  et al. 2021

Surgery of small bowel melanoma metastases in the era of efficient medical therapies: a retrospective cohort study.

Surgery of small bowel melanoma metastases has to be reconsidered in the era of targeted treatments and immunotherapy. To retrospectively assess context and outcomes of small bowel melanoma...
Melanoma Res - issue: 4 - volume: 31 - pages: 358-365.

Oei, W.  et al. 2021

Development of an international core domain set for medium, large and giant congenital melanocytic naevi as a first step towards a core outcome set for clinical practice and research.

BACKGROUND: Medium, large and giant congenital melanocytic naevi (CMN) can impose a psychosocial burden on patients and families, and are associated with increased risk of developing melanoma or...
Br J Dermatol - issue: 2 - volume: 185 - pages: 371-379.

Jdila, MB.  et al. 2021

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

BACKGROUND: Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently...
Orphanet J Rare Dis - issue: 1 - volume: 16 - pages: 317.

Gaudy-Marqueste, C.  et al. 2021

Molecular characterization of fast-growing melanomas.

BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high...
J Am Acad Dermatol - issue: - volume: - pages: .

Romanet, P.  et al. 2021

Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.

Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS expression itself is highly variable;...
Int J Mol Sci - issue: 14 - volume: 22 - pages: .

Srivastava, S.  et al. 2021

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

In humans, de novo truncating variants in WASF1 (Wiskott-Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic...
Brain Sci - issue: 7 - volume: 11 - pages: 931.

Iqbal, M.  et al. 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We...
Genet Med - issue: - volume: - pages: .

Castinetti, F.  et al. 2021

Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored.

Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of...
Clin Endocrinol (Oxf) - issue: - volume: - pages: .

Le Roux, M.  et al. 2021

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly...
Eur J Paediatr Neurol - issue: - volume: 33 - pages: 75-85.

Graillon, T.  et al. 2021

Role of 3D volume growth rate for drug activity evaluation in meningioma clinical trials: the example of the CEVOREM study.

BACKGROUND: We aimed to improve the assessment of the drug activity in meningioma clinical trials based on the study of the 3D volume growth rate (3DVGR) in a series of aggressive meningiomas. We...
Neuro Oncol - issue: 7 - volume: 23 - pages: 1139-1147.

Castinetti, F.  et al. 2021

Approach to the Patient Treated with Steroidogenesis Inhibitors.

Steroidogenesis inhibitors can be given to control the hypercortisolism of Cushing's syndrome in various situations: when surgery has been unsuccessful or not possible; in metastatic...
J Clin Endocrinol Metab - issue: 7 - volume: 106 - pages: 2114-2123.

Cuny, T.  et al. 2021

Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells.

CONTEXT: Somatostatin (SST) and dopamine (DA) inhibit growth hormone (GH) secretion and proliferation of GH-secreting pituitary adenomas (GHomas) through binding to SSTR2 and D2R receptors. Chimeric...
Pituitary - issue: 3 - volume: 24 - pages: 351-358.

Eydoux, R.  et al. 2021

Women's perceptions of femininity after craniopharyngioma: a qualitative study.

BACKGROUND: Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues...
Clin Endocrinol (Oxf) - issue: 5 - volume: 94 - pages: 880-887.

Ehinger, Y.  et al. 2021

Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome

Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes,...
Int J Mol Sci - issue: 9 - volume: 22 - pages: 4316.

Stefanovic, S.  et al. 2021

Outflow tract formation - Embryonic origins of conotruncal congenital heart disease

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the...
J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.

Aubert Mucca, M.  et al. 2021

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical...
J Med Genet - issue: - volume: - pages: jmedgenet-2020-107511.

Lo Barco, T.  et al. 2021

SYNGAP1-DEE: A visual sensitive epilepsy

OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available...
Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.

Ho, K.  et al. 2021

Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?

The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some...
J Endocr Soc - issue: 3 - volume: 5 - pages: bvaa205.

Hochman, C.  et al. 2021

Pre-term birth in women exposed to Cushing's disease: the baby-cush study.

DESIGN: Hypercortisolism during pregnancy is a risk factor for prematurity. Long-term exposure to hypercortisolism may lead to permanent comorbidities, such as hypertension or diabetes, even after...
Eur J Endocrinol - issue: 3 - volume: 184 - pages: 469-476.

Reincke, M.  et al. 2021

Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations.

BACKGROUND: Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease....
Eur J Endocrinol - issue: 3 - volume: 184 - pages: P1-P16.

Oei, W.  et al. 2021

Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research


Br J Dermatol - issue: 185 - volume: 2 - pages: 371-379.

Whalen, S.  et al. 2021

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families...
Eur J Hum Genet - issue: - volume: - pages: .

Matagne, V.  et al. 2021

Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent genetic...
Neurobiol Dis - issue: - volume: 149 - pages: 105235.

Castinetti, F.  et al. 2021

The risks of medical treatment of prolactinoma.

First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 15-19.

Amodru, V.  et al. 2021

Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives.

Adrenocortical carcinoma is a rare malignant tumor of poor prognosis, frequently requiring additional treatments after initial surgery. Due to its adrenolytic action, mitotane has become the...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 52-58.

Castinetti, F.  et al. 2021

Positron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal?

Medullary thyroid carcinomas (MTC) are rare neoplasms derived from calcitonin-secreting cells of the thyroid. They can occur sporadically or as part of the multiple endocrine neoplasia type 2...
Thyroid - issue: 2 - volume: 31 - pages: 151-155.

Jullien, N.  et al. 2021

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.

Salgues, B.  et al. 2021

Risk stratification of adrenal masses by [(18) F]FDG PET/CT: Changing tactics.

CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.

Buisset, C.  et al. 2021

Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience.

BACKGROUND: Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains significant. The aim of this study was...
Surg Endosc - issue: 2 - volume: 35 - pages: 728-735.

André, M.  et al. 2021

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review

We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of...
Arch Pediatr - issue: 1 - volume: 28 - pages: 87-92.

Kuhn, E.  et al. 2021

Correction to: Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study.


Endocrine - issue: 1 - volume: 71 - pages: 265.

Gerard, C.  et al. 2021

Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms.

Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite...
Endocr Relat Cancer - issue: 1 - volume: 28 - pages: 39-51.

Illouz, F.  et al. 2021

Somatostatin receptor ligands induce TSH deficiency in thyrotropin-secreting pituitary adenoma.

OBJECTIVE: Somatostatin receptor ligands (SRL) are useful to control central hyperthyroidism in patients with thyrotropin-secreting pituitary adenoma (TSH pituitary adenoma). The aim of this study...
Eur J Endocrinol - issue: 1 - volume: 184 - pages: 1-8.

Kuhn, E.  et al. 2021

Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study.

OBJECTIVE: After surgery, when somatostatin analogs (SAs) do not normalise IGF-I, pegvisomant (PEG) is indicated. Our aim was to define the medical reasons for the treatment of patients with PEG as...
Endocrine - issue: 1 - volume: 71 - pages: 158-167.

Borloz, E.  et al. 2021

Rett syndrome: think outside the (skull) box

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder characterized by neurodevelopmental regression between 6 and 18 months of life and associated with multi-system comorbidities....
- issue: - volume: - pages: .

Graillon, T.  et al. 2020

Parasellar Meningiomas.

Parasellar spaces remain particularly singular, comprising the most important neurovascular structures such as the internal carotid artery and optic, oculomotor, and trigeminal nerves. Meningiomas...
Neuroendocrinology - issue: 9-10 - volume: 110 - pages: 780-796.

Castets, S.  et al. 2020

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

BACKGROUND: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this...
Horm Res Paediatr - issue: 1 - volume: 93 - pages: 30-39.

El Waly, B.  et al. 2020

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

While chromosome 1p36 deletion syndrome is one of the most common terminal subtelomeric microdeletion syndrome, 1p36 microduplications are rare events. Polymicrogyria (PMG) is a brain malformation...
Eur J Hum Genet - issue: 12 - volume: 28 - pages: 1703-1713.

Gadelha, M.  et al. 2020

Risk factors and management of pasireotide-associated hyperglycemia in acromegaly.

Pasireotide, a multireceptor-targeted somatostatin analog with highest affinity for somatostatin receptor subtype (SST) 5, has demonstrated superior efficacy over the SST2-preferential somatostatin...
Endocr Connect - issue: 12 - volume: 9 - pages: 1178-1190.

Martel-Duguech, LM.  et al. 2020

ESE audit on management of Adult Growth Hormone Deficiency in clinical practice.

Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. AIMS: 1) To record current...
Eur J Endocrinol - issue: - volume: - pages: .

Albarel, F.  et al. 2020

Evaluation of an individualized education program in pituitary diseases: a pilot study.

INTRODUCTION: The low prevalence of pituitary diseases makes patient autonomy crucial, and self-management programs should be more common. OBJECTIVES: To assess the efficacy of an education program...
Eur J Endocrinol - issue: 6 - volume: 183 - pages: 551-559.

Graillon, T.  et al. 2020

Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas.


Neurooncol Adv - issue: 1 - volume: 2 - pages: vdaa068.

Verneuil, J.  et al. 2020

The M-current works in tandem with the persistent sodium current to set the speed of locomotion

The central pattern generator (CPG) for locomotion is a set of pacemaker neurons endowed with inherent bursting driven by the persistent sodium current (INaP). How they proceed to regulate the...
PLoS Biol - issue: 11 - volume: 18 - pages: e3000738.

Buffet, A.  et al. 2020

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

BACKGROUNDS: The incidence of germline mutations in the newly discovered cryptic exon (E1') of VHL gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or...
J Med Genet - issue: 11 - volume: 57 - pages: 752-759.

Calbet-Llopart, N.  et al. 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies...
Pigment Cell Melanoma Res - issue: 5 - volume: 33 - pages: 685-694.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases.

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and...
Am J Surg Pathol - issue: 10 - volume: 44 - pages: 1398-1405.

Mougel, G.  et al. 2020

Germinal defects of SDHx genes in patients with isolated pituitary adenoma.

BACKGROUND: The '3PAs' syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX....
Eur J Endocrinol - issue: 4 - volume: 183 - pages: 369-379.

Amodru, V.  et al. 2020

Discordant biological parameters of remission in acromegaly do not increase the risk of hypertension or diabetes: a study with the Liege Acromegaly Survey database.

PURPOSE: Acromegaly is a rare disease due to growth hormone (GH)-secreting pituitary adenoma. GH and IGF-1 levels are usually congruent, indicating either remission or active disease; however, a...
Endocrine - issue: 1 - volume: 70 - pages: 134-142.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and limbs...
Am. J. Surg. Pathol. - issue: 10 - volume: 44 - pages: 1398-1405.

Cabasson, S.  et al. 2020

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of...
Eur J Paediatr Neurol - issue: - volume: 28 - pages: 214-220.

Coopmans, EC.  et al. 2020

Multivariable Prediction Model for Biochemical Response to First-Generation Somatostatin Receptor Ligands in Acromegaly.

CONTEXT: First-generation somatostatin receptor ligands (fg-SRLs) represent the mainstay of medical therapy for acromegaly, but they provide biochemical control of disease in only a subset of...
J Clin Endocrinol Metab - issue: 9 - volume: 105 - pages: .

Amodru, V.  et al. 2020

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: 3 - volume: 69 - pages: 695.

Amodru, V.  et al. 2020

MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined by the association of medullary thyroid...
Endocrine - issue: 3 - volume: 69 - pages: 496-503.

R, .  et al. 2020

Commentary: The Impact of Insulin-Like Growth Factor Index and Biologically Effective Dose on Outcomes After Stereotactic Radiosurgery for Acromegaly: Cohort Study.


Neurosurgery - issue: 3 - volume: 87 - pages: E301-E302.

Mouly, C.  et al. 2020

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

OBJECTIVE: Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss-of-function mutations of the calcium-sensing receptor gene, is the main differential diagnosis for primary...
Clin Endocrinol (Oxf) - issue: 3 - volume: 93 - pages: 248-260.

Castinetti, F.  et al. 2020

Adrenal Crisis May Occur Even In Patients With Asymptomatic Covid-19.


Endocr Pract - issue: 8 - volume: 26 - pages: 929-930.

Lenders, JWM.  et al. 2020

Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.

: Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and sometimes life- threatening sequelae....
J Hypertens - issue: 8 - volume: 38 - pages: 1443-1456.

Amodru, V.  et al. 2020

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: - volume: - pages: .

Trivisano, M.  et al. 2020

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates...
Epilepsia - issue: 7 - volume: 61 - pages: e71-e78.

Eggermann, T.  et al. 2020

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

BACKGROUND: With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of...
Orphanet J Rare Dis - issue: 1 - volume: 15 - pages: 144.

Larsen, LV.  et al. 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

OBJECTIVE: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases....
Endocr Connect - issue: 6 - volume: 9 - pages: 489-497.

Colao, A.  et al. 2020

Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study.

OBJECTIVE: In the Phase III PAOLA study (clinicaltrials.gov: NCT01137682), enrolled patients had uncontrolled acromegaly despite ≥6 months of octreotide/lanreotide treatment before study start....
Eur J Endocrinol - issue: 6 - volume: 182 - pages: 583.

Castinetti, F.  et al. 2020

Radiation techniques in aggressive pituitary tumours and carcinomas.

Defining the role of radiation techniques in treatment of aggressive pituitary tumours and carcinomas is a difficult task: indeed, studies reported in the literature on this topic can probably be...
Rev Endocr Metab Disord - issue: 2 - volume: 21 - pages: 287-292.

de Tersant, M.  et al. 2020

Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

PURPOSE: The purpose of this work is to assess the clinical outcome of pediatric patients diagnosed with pheochromocytoma and paraganglioma (PPGL) detected in France since 2000. METHODS: A...
J Endocr Soc - issue: 5 - volume: 4 - pages: bvaa039.

Cambos, S.  et al. 2020

Persistent cortisol response to desmopressin predicts recurrence of Cushing's disease in patients with post-operative corticotropic insufficiency.

OBJECTIVE: Cushing's disease (CD) may recur despite corticotropic insufficiency (COI) following pituitary surgery. The predictive value of the desmopressin test (DT) for recurrence in this setting...
Eur J Endocrinol - issue: 5 - volume: 182 - pages: 489-498.

Milh, M.  et al. 2020

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

OBJECTIVE: Early onset epileptic encephalopathy with suppression-burst is one of the most severe epilepsy phenotypes in human patients. A significant proportion of cases have a genetic origin, and the...
Epilepsia - issue: 5 - volume: 61 - pages: 868-878.

Lojou, M.  et al. 2020

IgG4 hypophysitis: Diagnosis and management.

IgG4-related hypophysitis is a rare disease, due to a lymphoplasmocytic IgG4 positive infiltration of the pituitary. Literature data are scarce, even though the description of cases has drastically...
Presse Med - issue: 1 - volume: 49 - pages: 104016.

Lucia, K.  et al. 2020

Hypoxia and the hypoxia inducible factor 1α activate protein kinase A by repressing RII beta subunit transcription.

Overactivation of the cAMP signal transduction pathway plays a central role in the pathogenesis of endocrine tumors. Genetic aberrations leading to increased intracellular cAMP or directly affecting...
Oncogene - issue: 16 - volume: 39 - pages: 3367-3380.

Graillon, T.  et al. 2020

Surgical indications for pituitary tumors during pregnancy: a literature review.

PURPOSE: Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical...
Pituitary - issue: 2 - volume: 23 - pages: 189-199.

Ehinger, Y.  et al. 2020

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder for which there is no treatment. Several studies have linked the loss of MeCP2 function to...
EMBO Mol Med - issue: 2 - volume: 12 - pages: e10889.

Graillon, T.  et al. 2020

Fluctuation analysis of postoperative secretory status in patients operated for acromegaly.

OBJECTIVE: The aim of this study was to describe endocrinological outcome in patients operated on for acromegaly. METHODS: A retrospective study included 167 patients. Patients were assessed in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 11-17.

Jullien, M.  et al. 2020

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient.

CONTEXT: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 39-43.

Graillon, T.  et al. 2020

Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial.

PURPOSE: Aggressive meningiomas that progress after surgery/radiotherapy represent an unmet medical need. Strong and constant expression of SSTR2A receptors and activation of the Pi3K/Akt/mTOR...
Clin Cancer Res - issue: 3 - volume: 26 - pages: 552-557.

Graillon, T.  et al. 2020

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series.

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: 1 - volume: 64 - pages: 25-36.

Coppin, L.  et al. 2020

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

OBJECTIVE: Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most...
Eur J Endocrinol - issue: 1 - volume: 182 - pages: 57-65.

O'Donnell-Luria, AH.  et al. 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker...
Am. J. Hum. Genet. - issue: 6 - volume: 104 - pages: 1210-1222.

Piard, J.  et al. 2019

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

PURPOSE: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We...
Genet. Med. - issue: 6 - volume: 21 - pages: 1308-1318.

Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

OBJECTIVE: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. METHODS: We reviewed...
Epilepsia - issue: 5 - volume: 60 - pages: 845-856.

Frullanti, E.  et al. 2019

Analysis of the Phenotypes in the Rett Networked Database

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1...
Int J Genomics - issue: - volume: 2019 - pages: 6956934.

Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We...
Genet. Med. - issue: 4 - volume: 21 - pages: 837-849.

Valence, S.  et al. 2019

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify...
Genet. Med. - issue: 3 - volume: 21 - pages: 553-563.

Denis, J.  et al. 2019

[Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives].

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
Ann Biol Clin (Paris) - issue: 6 - volume: 77 - pages: 619-637.

Reichert, T.  et al. 2019

Exploring the link between tumour metabolism and succinate dehydrogenase deficiency: A (18) F-FDOPA PET/CT study in head and neck paragangliomas.

OBJECTIVES: Nuclear imaging findings by virtue of phenotyping disease heavily depend on genetic background, metabolites, cell membrane specific targets and signalling pathways. PPGL related to...
Clin Endocrinol (Oxf) - issue: 6 - volume: 91 - pages: 879-884.

Castinetti, F.  et al. 2019

Letter to the Editor: "Why We Should Still Treat by Neurosurgery Patients With Cushing Disease and a Normal or Inconclusive Pituitary MRI".


J Clin Endocrinol Metab - issue: 12 - volume: 104 - pages: 5791-5792.

Valassi, E.  et al. 2019

High mortality within 90 days of diagnosis in patients with Cushing's syndrome: results from the ERCUSYN registry.

OBJECTIVE: Patients with Cushing's syndrome (CS) have increased mortality. The aim of this study was to evaluate the causes and time of death in a large cohort of patients with CS and to establish...
Eur J Endocrinol - issue: 5 - volume: 181 - pages: 461-472.

Vergier, J.  et al. 2019

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It...
Eur J Endocrinol - issue: 5 - volume: 181 - pages: R199-R209.

Cuny, T.  et al. 2019

Acromegaly in Carney complex.

PURPOSE: Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by...
Pituitary - issue: 5 - volume: 22 - pages: 456-466.

Albarel, F.  et al. 2019

MANAGEMENT OF ENDOCRINE DISEASE: Immune check point inhibitors-induced hypophysitis.

In recent years, the development of immunotherapy has constituted a revolution in the therapy for many cancers, with a specific toxicity profile including endocrine immune-related adverse events....
Eur J Endocrinol - issue: 3 - volume: 181 - pages: R107-R118.

Neumann, HPH.  et al. 2019

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

IMPORTANCE: Large studies investigating long-term outcomes of patients with bilateral pheochromocytomas treated with either total or cortical-sparing adrenalectomies are needed to inform clinical...
JAMA Netw Open - issue: 8 - volume: 2 - pages: e198898.

Bajuk Studen, K.  et al. 2019

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.

PURPOSE: Among genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital...
Endocrine - issue: 2 - volume: 65 - pages: 379-385.

Florea, SM.  et al. 2019

Ophthalmoplegic complications in transsphenoidal pituitary surgery.

OBJECTIVE: Ophthalmoplegia is a rare complication of transsphenoidal surgery, only noted in a few studies. The purpose of this study was to analyze the complications of cranial nerve III, IV, or VI...
J Neurosurg - issue: - volume: - pages: 1-9.

Amodru, V.  et al. 2019

LARGE ADRENAL INCIDENTALOMAS REQUIRE A DEDICATED DIAGNOSTIC PROCEDURE.

Objective: The management of large nonsecreting adrenal tumors (at least 4 cm) is still a matter of debate as it is unclear whether imaging, especially (18)F-fluorodeoxyglucose (FDG), can be used to...
Endocr Pract - issue: 7 - volume: 25 - pages: 669-677.

Castinetti, F.  et al. 2019

Age and MEN2 outcome.


Aging (Albany NY) - issue: 11 - volume: 11 - pages: 3416-3417.

Fultang, L.  et al. 2019

Macrophage-Derived IL1beta and TNFalpha Regulate Arginine Metabolism in Neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.

Romanet, P.  et al. 2019

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its...
Hum Mutat - issue: 6 - volume: 40 - pages: 661-674.

Amodru, V.  et al. 2019

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A (18) F-FDOPA PET/CT study.

BACKGROUND: (18) F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship...
Head Neck - issue: 6 - volume: 41 - pages: 1565-1571.

Castinetti, F.  et al. 2019

[Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines].

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly...
Bull Cancer - issue: 5 - volume: 106 - pages: 492-496.

Castinetti, F.  et al. 2019

Radiotherapy as a tool for the treatment of Cushing's disease.

Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a...
Eur J Endocrinol - issue: 5 - volume: 180 - pages: D9-D18.

Sahakian, N.  et al. 2019

Clinical management of difficult to treat macroprolactinomas.

INTRODUCTION: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as...
Expert Rev Endocrinol Metab - issue: 3 - volume: 14 - pages: 179-192.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Castinetti, F.  et al. 2019

Thyroiditis and immune check point inhibitors: the post-marketing experience using the French National Pharmacovigilance database.


Fundam Clin Pharmacol - issue: 2 - volume: 33 - pages: 239-240.

Graillon, T.  et al. 2019

Functioning gonadotroph adenoma with severe ovarian hyperstimulation syndrome: A new emergency in pituitary adenoma surgery? Surgical considerations and literature review.

The authors reported 2
Ann Endocrinol (Paris) - issue: 2 - volume: 80 - pages: 122-127.

Etchevers, H.  et al. 2019

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
Development - issue: - volume: 146(5) - pages: dev.169821.

Castinetti, F.  et al. 2019

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and...
Lancet Diabetes Endocrinol - issue: 3 - volume: 7 - pages: 213-220.

Veyrat-Durebex, C.  et al. 2019

Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.

Thirty percent of medullary thyroid carcinomas (MTCs) are related to dominant germline pathogenic variants in the RET proto-oncogene. According to their aggressiveness, these pathogenic variants are...
Endocr Relat Cancer - issue: 3 - volume: 26 - pages: 379-389.

Leroy-Freschini, B.  et al. 2019

Early (18)F-FDOPA PET/CT imaging after carbidopa premedication as a valuable diagnostic option in patients with insulinoma.

PURPOSE: Data on the diagnostic value of (18)F-FDOPA PET/CT in patients with insulinoma are limited and are focused on small patient populations explored using different PET/CT protocols and the...
Eur J Nucl Med Mol Imaging - issue: 3 - volume: 46 - pages: 686-695.

Brue, T.  et al. 2019

Diabetes in patients with acromegaly treated with pegvisomant: observations from acrostudy.

PURPOSE: To explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance study....
Endocrine - issue: 3 - volume: 63 - pages: 563-572.

Romanet, P.  et al. 2019

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
J Clin Endocrinol Metab - issue: 3 - volume: 104 - pages: 753-764.

Romanet, P.  et al. 2019

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase...
J Pediatr - issue: - volume: 205 - pages: 281-285.e4.

Castinetti, F.  et al. 2019

French Endocrine Society Guidance on endocrine side effects of immunotherapy.

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPIs). However, the use of ICPI has a risk of side effects, particularly...
Endocr Relat Cancer - issue: 2 - volume: 26 - pages: G1-G18.

Jullien, N.  et al. 2019

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant...
Eur J Hum Genet - issue: 2 - volume: 27 - pages: 216-225.

Caron, P.  et al. 2019

Correction to: Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

The original version of this article unfortunately contained a mistake in corresponding author name as Philippe Chanson in the affiliation section.
Endocrine - issue: 1 - volume: 63 - pages: 130.

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

Asseeva, P.  et al. 2019

Value of (123)I/(99m)Tc-sestamibi parathyroid scintigraphy with subtraction SPECT/CT in primary hyperparathyroidism for directing minimally invasive parathyroidectomy.

BACKGROUND: Primary hyperparathyroidism/(PHPT) is one of the most common endocrinological conditions. Surgery remains the only curative option. We have evaluated the performance of double isotope...
Am J Surg - issue: 1 - volume: 217 - pages: 108-113.

Muracciole, X.  et al. 2018

Negative Survival Impact of High Radiation Doses to Neural Stem Cells Niches in an IDH-Wild-Type Glioblastoma Population.

Aims: Assess the impact of radiation doses to neural stem cell (NSC) niches in patients with IDH-wild-type glioblastoma. Materials and Methods: Fifty patients were included in the study. NSC niches...
Front Oncol - issue: - volume: 8 - pages: 426.

Mignon-Ravix, C.  et al. 2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.

Mortreux, J.  et al. 2018

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

INTRODUCTION: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome...
Eur. J. Hum. Genet. - issue: 1 - volume: 26 - pages: 143-148.

Ehinger, Y.  et al. 2018

Rett syndrome from bench to bedside: recent advances

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and...
F1000Res - issue: - volume: 7 - pages: 398.

Mancini, J.  et al. 2018

Effect of desipramine on patients with breathing disorders in RETT syndrome

Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced...
Ann Clin Transl Neurol - issue: 2 - volume: 5 - pages: 118-127.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules


Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.

Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (?MSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.

Albarel, F.  et al. 2018

Pre-surgical medical treatment, a major prognostic factor for long-term remission in acromegaly.

PURPOSE: To determine whether pre-surgical medical treatment (PSMT) using long-acting Somatostatin analogues in acromegaly may improve long-term surgical outcome and to determine decision making...
Pituitary - issue: 6 - volume: 21 - pages: 615-623.

Buchfelder, M.  et al. 2018

Long-term treatment with pegvisomant: observations from 2090 acromegaly patients in ACROSTUDY.

Objectives ACROSTUDY is an international, non-interventional study of acromegaly patients treated with pegvisomant (PEGV), a growth hormone receptor antagonist and has been conducted since 2004 in 15...
Eur J Endocrinol - issue: 6 - volume: 179 - pages: 419-427.

Cuny, T.  et al. 2018

Role of the tumor microenvironment in digestive neuroendocrine tumors.

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around half of patients already present with...
Endocr Relat Cancer - issue: 11 - volume: 25 - pages: R519-R544.

Maurice, F.  et al. 2018

Cushing Syndrome Is Associated With Subclinical LV Dysfunction and Increased Epicardial Adipose Tissue.


J Am Coll Cardiol - issue: 18 - volume: 72 - pages: 2276-2277.

Maurice, F.  et al. 2018

Active cushing syndrome patients have increased ectopic fat deposition and bone marrow fat content compared to cured patients and healthy subjects: a pilot 1H-MRS study.

OBJECTIVE: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a l new mediator of bone metabolism. Cushing syndrome (CS), is a...
Eur J Endocrinol - issue: 5 - volume: 179 - pages: 307-317.

Marzin, P.  et al. 2018

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset...
Brain Dev. - issue: 9 - volume: 40 - pages: 768-774.

Castinetti, F.  et al. 2018

Introduction to expert opinion on endocrine complications of new anticancer therapies.

Over the last 10 years, cancer treatment has progressed, with increasing use of tyrosine kinase inhibitors, mTOR inhibitors and, most recently, immunotherapy. These molecules, however, also incur...
Ann Endocrinol (Paris) - issue: 5 - volume: 79 - pages: 535-538.

Castinetti, F.  et al. 2018

Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions.

The present final consensus statement of the French Society of Endocrinology lays out the assessments that are to be systematically performed before and during anticancer treatment by immunotherapy,...
Ann Endocrinol (Paris) - issue: 5 - volume: 79 - pages: 591-595.

Rochette, C.  et al. 2018

Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system.

Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs)....
J Psychosoc Oncol - issue: 5 - volume: 36 - pages: 624-634.

Bramswig, NC.  et al. 2018

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the...
Hum. Genet. - issue: 9 - volume: 137 - pages: 753-768.

Vermalle, M.  et al. 2018

[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].

The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the...
Ann Endocrinol (Paris) - issue: - volume: 79 Suppl 1 - pages: S10-S21.

Vermalle, M.  et al. 2018

Lack of functional remission in Cushing's syndrome.

INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's...
Endocrine - issue: 3 - volume: 61 - pages: 518-525.

Ku, CR.  et al. 2018

Long-acting FC-fusion rhGH (GX-H9) shows potential for up to twice-monthly administration in GH-deficient adults.

OBJECTIVE: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the...
Eur J Endocrinol - issue: 3 - volume: 179 - pages: 169-179.

Romanet, P.  et al. 2018

Clinical study on the efficacy, acceptance, and safety of hearing aids in patients with mild to moderate presbyacusis.

BACKGROUND: The primary objective of this trial was to demonstrate the effect of wearing a Hearing aid (HA) on improvement of hearing and comprehension in everyday life situations. METHODS: This...
Panminerva Med - issue: 3 - volume: 60 - pages: 92-100.

Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .

Neumann, HP.  et al. 2018

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.

Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements...
Endocr Relat Cancer - issue: 8 - volume: 25 - pages: T201-T219.

Trainer, PJ.  et al. 2018

A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly.

OBJECTIVE: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of...
Eur J Endocrinol - issue: 2 - volume: 179 - pages: 97-108.

Gabriel, S.  et al. 2018

Prospective evaluation of (68) Ga-DOTATATE PET/CT in limited disease neuroendocrine tumours and/or elevated serum neuroendocrine biomarkers.

CONTEXT: The (68) Ga-labelled somatostatin analogues ((68) Ga-DOTA-SSAs) is becoming popular as an important diagnostic tool in neuroendocrine tumours as evidenced by a growing number of reports...
Clin Endocrinol (Oxf) - issue: 2 - volume: 89 - pages: 155-163.

Borius, P.  et al. 2018

An Open-Label, Analgesic Efficacy and Safety of Pituitary Radiosurgery for Patients With Opioid-Refractory Pain: Study Protocol for a Randomized Controlled Trial.

BACKGROUND: Hypophysectomy performed by craniotomy or percutaneous techniques leads to complete pain relief in more than 70% to 80% of cases for opioid refractory cancer pain. Radiosurgery could be...
Neurosurgery - issue: 1 - volume: 83 - pages: 146-153.

Paladino, NC.  et al. 2018

Characterization of adrenocortical tumors by (18)F-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern?

BACKGROUND: adrenal tumor-to-liver uptake value (Tmx:Lmx) on (18)F-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The...
Surg Oncol - issue: 2 - volume: 27 - pages: 231-235.

Brue, T.  et al. 2018

MANAGEMENT OF ENDOCRINE DISEASE: Management of Cushing's syndrome during pregnancy: solved and unsolved questions.

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
Eur J Endocrinol - issue: 6 - volume: 178 - pages: R259-R266.

Bahougne, T.  et al. 2018

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene.

We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed...
J Clin Med - issue: 6 - volume: 7 - pages: .

Young, J.  et al. 2018

Hepatic safety of ketoconazole in Cushing's syndrome: results of a Compassionate Use Programme in France.

OBJECTIVE: Ketoconazole (KTZ) is one of few available treatments for Cushing's syndrome (CS). Although KTZ has been associated with severe hepatotoxicity, little information is available about...
Eur J Endocrinol - issue: 5 - volume: 178 - pages: 447-458.

Ta, .  et al. 2018

18F-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma.

CONTEXT: MYC-associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of ~40 reported cases. At present, no study has specifically...
J Clin Endocrinol Metab - issue: 4 - volume: 103 - pages: 1574-1582.

Vitellius, G.  et al. 2018

Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.

BACKGROUND: Recently discovered mutations of NR3C1 gene, encoding for the GR, in patients with glucocorticoid resistance and bilateral adrenal incidentalomas prompted us to investigate whether GR...
Eur J Endocrinol - issue: 4 - volume: 178 - pages: 411-423.

Valassi, E.  et al. 2018

Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN.

BACKGROUND: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative...
Eur J Endocrinol - issue: 4 - volume: 178 - pages: 399-409.

McCormack, A.  et al. 2018

Treatment of aggressive pituitary tumours and carcinomas: results of a European Society of Endocrinology (ESE) survey 2016.

OBJECTIVE: To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC) and specifically report effects of temozolomide (TMZ) treatment. DESIGN:...
Eur J Endocrinol - issue: 3 - volume: 178 - pages: 265-276.

Bodokh, Y.  et al. 2018

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review.

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional...
Cancer Genet - issue: - volume: 221 - pages: 31-37.

Reznik, Y.  et al. 2018

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 1-22.

Gilly, O.  et al. 2018

Unilateral aggressive pheochromocytoma revealed by a massive intraperitoneal hemorrhage five years after an initial presentation suggesting an adrenal hematoma.


Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 48-52.

Amodru, V.  et al. 2018

Quantitative (18)F-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype.

INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and...
Eur J Nucl Med Mol Imaging - issue: 2 - volume: 45 - pages: 278-282.

Guerin, C.  et al. 2018

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T15-T28.

Castinetti, F.  et al. 2018

A comprehensive review on MEN2B.

MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features,...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T29-T39.

Lacroix, A.  et al. 2018

Efficacy and safety of once-monthly pasireotide in Cushing's disease: a 12 month clinical trial.

BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing...
Lancet Diabetes Endocrinol - issue: 1 - volume: 6 - pages: 17-26.

Sauvestre, F.  et al. 2017

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation


Neuropathol. Appl. Neurobiol. - issue: 7 - volume: 43 - pages: 631-635.

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

Petrossians, P.  et al. 2017

Acromegaly at diagnosis in 3173 patients from the Liège Acromegaly Survey (LAS) Database

Acromegaly is a rare disorder caused by chronic growth hormone (GH) hypersecretion. While diagnostic and therapeutic methods have advanced, little information exists on trends in acromegaly...
Endocr. Relat. Cancer - issue: 10 - volume: 24 - pages: 505-518.

Boeva, V.  et al. 2017

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

Neuroblastoma is a tumor of the peripheral sympathetic nervous system, derived from multipotent neural crest cells (NCCs). To define core regulatory circuitries (CRCs) controlling the gene expression...
Nat. Genet. - issue: 9 - volume: 49 - pages: 1408-1413.

Villeneuve, N.  et al. 2017

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially...
Eur. J. Paediatr. Neurol. - issue: 5 - volume: 21 - pages: 783-786.

Mohamed, A.  et al. 2017

Anti-proliferative and anti-secretory effects of everolimus on human pancreatic neuroendocrine tumors primary cultures: is there any benefit from combination with somatostatin analogs?

Therapeutic management of gastroenteropancreatic neuroendocrine tumors (GEP-NETs) is challenging. The mammalian target of rapamycin (mTOR) inhibitor everolimus recently obtained approval from the Food...
Oncotarget - issue: 25 - volume: 8 - pages: 41044-41063.

Castinetti, F.  et al. 2017

Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions

Gamma Knife radiosurgery (GK) is an effective treatment for hypothalamic hamartoma. No precise data are available on the risk of endocrine side effects of this treatment. In this study, 34 patients...
Epilepsia - issue: - volume: 58 Suppl 2 - pages: 72-76.

Brue, T.  et al. 2017

Lessons from monogenic causes of growth hormone deficiency

Through the multicentric international GENHYPOPIT network, 10 transcription factor genes involved in pituitary development have been screened in more than 1200 patients with constitutional...
Ann. Endocrinol. (Paris) - issue: 2 - volume: 78 - pages: 77-79.

Maione, L.  et al. 2017

Changes in the management and comorbidities of acromegaly over three decades: the French Acromegaly Registry

CONTEXT: Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN: The French Registry contains data on...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 645-655.

Wolff, M.  et al. 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71...
Brain - issue: 5 - volume: 140 - pages: 1316-1336.

Franck, SE.  et al. 2017

A multivariable prediction model for pegvisomant dosing: monotherapy and in combination with long-acting somatostatin analogues

BACKGROUND: Effective treatment of acromegaly with pegvisomant (PEGV), a growth hormone receptor antagonist, requires an appropriate dose titration. PEGV doses vary widely among individual patients,...
Eur. J. Endocrinol. - issue: 4 - volume: 176 - pages: 421-430.

Eroukhmanoff, J.  et al. 2017

MRI follow-up is unnecessary in patients with macroprolactinomas and long-term normal prolactin levels on dopamine agonist treatment

OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once...
Eur. J. Endocrinol. - issue: 3 - volume: 176 - pages: 323-328.

Matagne, V.  et al. 2017

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.

Graillon, T.  et al. 2017

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: - volume: - pages: .

Goldenberg, A.  et al. 2016

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39...
Am. J. Med. Genet. A - issue: 11 - volume: 170 - pages: 2847-2859.

Devaux, J.  et al. 2016

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

Mutations in the KCNQ2 gene encoding the voltage-gated potassium channel subunit Kv7.2 cause early onset epileptic encephalopathy (EOEE). Most mutations have been shown to induce a loss of function or...
Epilepsia - issue: 5 - volume: 57 - pages: e87-93.

Képénékian, L.  et al. 2016

Long-term outcome of macroprolactinomas

OBJECTIVE: Management of macroprolactinomas has dramatically changed in recent decades, from surgical to medical treatment as first-line therapy, with the development of dopamine agonists (DA). But...
Ann. Endocrinol. (Paris) - issue: 6 - volume: 77 - pages: 641-648.

Potorac, I.  et al. 2016

T2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly

GH-secreting pituitary adenomas can be hypo-, iso- or hyper-intense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to...
Endocr. Relat. Cancer - issue: 11 - volume: 23 - pages: 871-881.

Albarel, F.  et al. 2016

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report

Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected...
Hum. Reprod. - issue: 11 - volume: 31 - pages: 2609-2612.

Brue, T.  et al. 2016

The risks of overlooking the diagnosis of secreting pituitary adenomas

Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these...
Orphanet J Rare Dis - issue: 1 - volume: 11 - pages: 135.

Cuny, T.  et al. 2016

In vitro impact of pegvisomant on growth hormone-secreting pituitary adenoma cells

Pegvisomant (PEG), an antagonist of growth hormone (GH)-receptor (GHR), normalizes insulin-like growth factor 1 (IGF1) oversecretion in most acromegalic patients unresponsive to somatostatin analogs...
Endocr. Relat. Cancer - issue: 7 - volume: 23 - pages: 509-519.

Lemke, JR.  et al. 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Objective:To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.Methods:We collected...
Neurology - issue: 23 - volume: 86 - pages: 2171-2178.

Francou, B.  et al. 2016

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study

STUDY QUESTION: What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with...
Hum. Reprod. - issue: 6 - volume: 31 - pages: 1363-1374.

Castinetti, F.  et al. 2016

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily...
Eur. J. Endocrinol. - issue: 6 - volume: 174 - pages: R239-247.

Castinetti, F.  et al. 2016

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency

Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL...
Horm. Metab. Res. - issue: 6 - volume: 48 - pages: 389-393.

Lefebvre, M.  et al. 2016

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates...
Clin. Genet. - issue: 5 - volume: 89 - pages: 630-635.

Zillhardt, JL.  et al. 2016

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of...
Eur. J. Hum. Genet. - issue: 4 - volume: 24 - pages: 611-614.

Chassaing, N.  et al. 2016

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are...
Genome Res. - issue: 4 - volume: 26 - pages: 474-485.

Caron, PJ.  et al. 2016

Effects of lanreotide Autogel primary therapy on symptoms and quality-of-life in acromegaly: data from the PRIMARYS study

PURPOSE: To evaluate the effects of lanreotide Autogel on patient-reported outcomes and association with biochemical control, using PRIMARYS data. METHODS: PRIMARYS was a 1-year, open-label study of...
Pituitary - issue: 2 - volume: 19 - pages: 149-157.

Bernard, V.  et al. 2016

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome

STUDY QUESTION: What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? SUMMARY ANSWER: Amongst 480 women with TS, 27...
Hum. Reprod. - issue: 4 - volume: 31 - pages: 782-788.

Abidi, A.  et al. 2016

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically...
Eur. J. Hum. Genet. - issue: 4 - volume: 24 - pages: 615-618.

Fiot, E.  et al. 2016

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

OBJECTIVE: Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to...
Eur. J. Endocrinol. - issue: 3 - volume: 174 - pages: 281-288.

Milh, M.  et al. 2016

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes...
Rev. Neurol. (Paris) - issue: 3 - volume: 172 - pages: 171-173.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton


J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Guerin, C.  et al. 2016

Bilateral adrenalectomy in the 21st century: when to use it for hypercortisolism?

Therapeutic options available for the treatment of Cushing's syndrome (CS) have expanded over the last 5 years. For instance, the efficient management of severe hypercortisolism using a combination of...
Endocr. Relat. Cancer - issue: 2 - volume: 23 - pages: R131-142.

Castinetti, F.  et al. 2016

MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma

The management of hereditary pheochromocytoma has drastically evolved in the last 20 years. Bilateral pheochromocytoma does not increase mortality in MEN2 or von Hippel-Lindau (VHL) mutation carriers...
Eur. J. Endocrinol. - issue: 1 - volume: 174 - pages: R9-18.

Choucair, N.  et al. 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the...
Mol Cytogenet - issue: - volume: 8 - pages: 39.

Choucair, N.  et al. 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and...
Mol Cytogenet - issue: - volume: 8 - pages: 26.

Philippon, M.  et al. 2015

Successful pregnancies and healthy live births using frozen-thawed sperm retrieved by a new modified Hotchkiss procedure in males with retrograde ejaculation: first case series

BACKGROUND: In couples presenting with retrograde ejaculation refractory to medical treatment, the first choice of fertility treatment should be Assisted Reproductive Techniques using rapidly purified...
Basic Clin Androl - issue: - volume: 25 - pages: 5.

Jullien, N.  et al. 2015

Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis

To test the role of wtPIT-1 (PITWT) or PIT-1 (R271W) (PIT271) in somatolactotroph cells, we established, using inducible lentiviral vectors, sublines of GH4C1 somatotroph cells that allow the blockade...
PLoS ONE - issue: 3 - volume: 10 - pages: e0120010.

Di Meglio, C.  et al. 2015

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

OBJECTIVE: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection...
Epilepsia - issue: 12 - volume: 56 - pages: 1931-1940.

Grozeva, D.  et al. 2015

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using targeted...
Hum. Mutat. - issue: 12 - volume: 36 - pages: 1197-1204.

Chanson, P.  et al. 2015

Pegvisomant treatment in patients with acromegaly in clinical practice: The French ACROSTUDY

OBJECTIVE: To monitor long-term pegvisomant treatment of patients with acromegaly in routine clinical practice. PATIENTS AND METHODS: The French ACROSTUDY is part of the global ACROSTUDY, an...
Ann. Endocrinol. (Paris) - issue: 6 - volume: 76 - pages: 664-670.

Pleil, A.  et al. 2015

Development of a Prediction Model of Disease Activity in Support of Clinical Practice - the Acrodat Experience


Value Health - issue: 7 - volume: 18 - pages: A708.

Milh, M.  et al. 2015

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity. Patients affected by benign familial neonatal epilepsy...
Am. J. Med. Genet. A - issue: 10 - volume: 167A - pages: 2314-2318.

Castinetti, F.  et al. 2015

ISL1 Is Necessary for Maximal Thyrotrope Response to Hypothyroidism

ISLET1 is a homeodomain transcription factor necessary for development of the pituitary, retina, motor neurons, heart, and pancreas. Isl1-deficient mice (Isl1(-/-)) die early during embryogenesis at...
Mol. Endocrinol. - issue: 10 - volume: 29 - pages: 1510-1521.

Doummar, D.  et al. 2015

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement


Mov. Disord. - issue: 10 - volume: 30 - pages: 1431-1432.

Abidi, A.  et al. 2015

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the...
Neurobiol. Dis. - issue: - volume: 80 - pages: 80-92.

Abidi, A.  et al. 2015

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the...
Neurobiol. Dis. - issue: - volume: 80 - pages: 80-92.

El Waly, B.  et al. 2015

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they cannot be repaired, these lesions will...
Mol. Neurobiol. - issue: 1 - volume: 52 - pages: 771-782.

Le Marc'hadour, P.  et al. 2015

Postoperative follow-up of Cushing's disease using cortisol, desmopressin and coupled dexamethasone-desmopressin tests: a head-to-head comparison

OBJECTIVE: Predicting the outcome of patients operated on for Cushing's disease (CD) is a challenging task. Our objective was to assess the accuracy of immediate postsurgical plasma cortisol,...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 83 - pages: 216-222.

Abidi, A.  et al. 2015

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically...
Eur. J. Hum. Genet. - issue: - volume: - pages: .

Petersenn, S.  et al. 2015

Therapy of endocrine disease: outcomes in patients with Cushing's disease undergoing transsphenoidal surgery: systematic review assessing criteria used to define remission and recurrence

OBJECTIVE: A number of factors can influence the reported outcomes of transsphenoidal surgery (TSS) for Cushing's disease - including different remission and recurrence criteria, for which there is no...
Eur. J. Endocrinol. - issue: 6 - volume: 172 - pages: R227-239.

Bouvattier, C.  et al. 2015

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

CONTEXT: Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men. OBJECTIVE: The objective was to...
J. Clin. Endocrinol. Metab. - issue: 6 - volume: 100 - pages: 2303-2313.

Nissenkorn, A.  et al. 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database

OBJECTIVE: Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and...
Epilepsia - issue: 4 - volume: 56 - pages: 569-576.

Potorac, I.  et al. 2015

Pituitary MRI characteristics in 297 acromegaly patients based on T2-weighted sequences

Responses of GH-secreting adenomas to multimodal management of acromegaly vary widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying factors predictive...
Endocr. Relat. Cancer - issue: 2 - volume: 22 - pages: 169-177.

Poulat, A.  et al. 2015

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures. Patients presented...
Epilepsy Res. - issue: - volume: 111 - pages: 72-77.

Bauer, M.  et al. 2015

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We...
J. Clin. Immunol. - issue: 2 - volume: 35 - pages: 168-181.

Castinetti, F.  et al. 2015

An observational study on adrenal insufficiency in a French tertiary centre: Real life versus theory

BACKGROUND: Patients suffering from adrenal insufficiency, whether primary (PAI) or secondary (SAI) have an increased mortality risk and increased morbidity. There are no guidelines on hydrocortisone...
Ann. Endocrinol. (Paris) - issue: 1 - volume: 76 - pages: 1-8.

Price, HN.  et al. 2015

Practical application of the new classification scheme for congenital melanocytic nevi

A new consensus-based classification of congenital melanocytic nevi (CMN) has recently been proposed. It includes categories for projected adult size (PAS) and location, satellite nevi counts, and...
Pediatr Dermatol - issue: 1 - volume: 32 - pages: 23-27.

Albarel, F.  et al. 2015

Long-term follow-up of ipilimumab-induced hypophysitis, a common adverse event of the anti-CTLA-4 antibody in melanoma

OBJECTIVE: Few data are published on the long-term follow-up of ipilimumab-induced hypophysitis, a cytotoxic T-lymphocyte antigen 4 antibody. We characterized hypophysitis in terms of clinical signs,...
Eur. J. Endocrinol. - issue: 2 - volume: 172 - pages: 195-204.

Castinetti, F.  et al. 2015

Combined pituitary hormone deficiency: current and future status

Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a...
J. Endocrinol. Invest. - issue: 1 - volume: 38 - pages: 1-12.

El-Khoury, R.  et al. 2014

GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice

Proper brain functioning requires a fine-tuning between excitatory and inhibitory neurotransmission, a balance maintained through the regulation and release of glutamate and GABA. Rett syndrome (RTT)...
PLoS ONE - issue: 3 - volume: 9 - pages: e92169.

Brue, T.  et al. 2014

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

BACKGROUND: DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with...
BMC Med. Genet. - issue: - volume: 15 - pages: 139.

Mear, Y.  et al. 2014

Ghrelin receptor (GHS-R1a) and its constitutive activity in somatotroph adenomas: a new co-targeting therapy using GHS-R1a inverse agonists and somatostatin analogs

CONTEXT: The ghrelin receptor GHS-R1a is highly expressed in human somatotroph adenomas and exhibits unusually high basal signaling activity. In humans, the suppression of this constitutive activity...
J. Clin. Endocrinol. Metab. - issue: 12 - volume: 99 - pages: E2463-2471.

Gadelha, MR.  et al. 2014

Pasireotide versus continued treatment with octreotide or lanreotide in patients with inadequately controlled acromegaly (PAOLA): a randomised, phase 3 trial

BACKGROUND: Many patients with acromegaly do not achieve biochemical control despite receiving high doses of the first-generation somatostatin analogues octreotide or lanreotide. In the PAOLA trial,...
Lancet Diabetes Endocrinol - issue: 11 - volume: 2 - pages: 875-884.

Mohamed, A.  et al. 2014

Pasireotide and octreotide antiproliferative effects and sst2 trafficking in human pancreatic neuroendocrine tumor cultures

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) raise difficult therapeutic problems despite the emergence of targeted therapies. Somatostatin analogs (SSA) remain pivotal therapeutic drugs....
Endocr. Relat. Cancer - issue: 5 - volume: 21 - pages: 691-704.

Poulton, CJ.  et al. 2014

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Mutations in WDR62 are associated with primary microcephaly; however, they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate...
Am. J. Med. Genet. A - issue: 9 - volume: 164A - pages: 2161-2171.

Pivonello, R.  et al. 2014

Pasireotide treatment significantly improves clinical signs and symptoms in patients with Cushing's disease: results from a Phase III study

OBJECTIVE: Signs and symptoms of Cushing's disease are associated with high burden of illness. In this analysis, we evaluated the effect of pasireotide treatment on signs and symptoms in patients with...
Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 408-417.

Bakiri, F.  et al. 2014

Pituitary apoplexy after somatostatin analogue administration: coincidental or causative?


Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 471-473.

Mignon-Ravix, C.  et al. 2014

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the...
Am. J. Med. Genet. A - issue: 8 - volume: 164A - pages: 1991-1997.

Thevenon, J.  et al. 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay,...
Am. J. Hum. Genet. - issue: 1 - volume: 95 - pages: 113-120.

Nozières, C.  et al. 2014

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

CONTEXT: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited syndrome, related to mutations in the MEN1 gene. Controversial data suggest that the nonsynonymous p.Ala541Thr...
Ann. Endocrinol. (Paris) - issue: 3 - volume: 75 - pages: 133-140.

Abdi, L.  et al. 2014

A monocentric experience of growth hormone replacement therapy in adult patients

OBJECTIVES: To describe the results of growth hormone (GH) therapy in adult GH-deficient patients treated in a tertiary referral center, with a focus on quality of life and adherence. PATIENTS AND...
Ann. Endocrinol. (Paris) - issue: 3 - volume: 75 - pages: 176-183.

Philippon, M.  et al. 2014

Bilateral neck exploration in patients with primary hyperparathyroidism and discordant imaging results: a single-centre study

INTRODUCTION: Focused parathyroidectomy is the treatment of choice for patients with concordant positive imaging. Bilateral cervical exploration is performed for cases with discordant imaging, yet...
Eur. J. Endocrinol. - issue: 5 - volume: 170 - pages: 719-725.

Castinetti, F.  et al. 2014

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

BACKGROUND: The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to...
Lancet Oncol. - issue: 6 - volume: 15 - pages: 648-655.

Castinetti, F.  et al. 2014

Ketoconazole in Cushing's disease: is it worth a try?

BACKGROUND: The use of ketoconazole has been recently questioned after warnings from the European Medicine Agencies and the Food and Drug Administration due to potential hepatotoxicity. However,...
J. Clin. Endocrinol. Metab. - issue: 5 - volume: 99 - pages: 1623-1630.

Etchevers, HC.  et al. 2014

Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system...
J. Invest. Dermatol. - issue: 4 - volume: 134 - pages: 879-882.

Caron, PJ.  et al. 2014

Tumor shrinkage with lanreotide Autogel 120 mg as primary therapy in acromegaly: results of a prospective multicenter clinical trial

CONTEXT: Methodological shortcomings often compromise investigations into the effects of primary somatostatin-analog treatment on tumor size in acromegaly. There are also limited data for the...
J. Clin. Endocrinol. Metab. - issue: 4 - volume: 99 - pages: 1282-1290.

Cacciagli, P.  et al. 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker...
Eur. J. Hum. Genet. - issue: 3 - volume: 22 - pages: 363-368.

Colao, A.  et al. 2014

Pasireotide versus octreotide in acromegaly: a head-to-head superiority study

CONTEXT: Biochemical control reduces morbidity and increases life expectancy in patients with acromegaly. With current medical therapies, including the gold standard octreotide long-acting-release...
J. Clin. Endocrinol. Metab. - issue: 3 - volume: 99 - pages: 791-799.

Becquet, D.  et al. 2014

Evidence for an internal and functional circadian clock in rat pituitary cells

In primary cultures of rat pituitary cells and in a pituitary sommatolactotroph cell line (GH4C1), endogenous core-clock- as well as hormone-genes such as prolactin displayed a rhythmic expression...
Mol. Cell. Endocrinol. - issue: 2 - volume: 382 - pages: 888-898.

Petersenn, S.  et al. 2014

High variability in baseline urinary free cortisol values in patients with Cushing's disease

OBJECTIVE: Twenty-four-hour urinary free cortisol (UFC) sampling is commonly used to evaluate Cushing's syndrome. Because there are few data on UFC variability in patients with active Cushing's...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 80 - pages: 261-269.

Kaddoum, L.  et al. 2013

Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain

Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene.  MeCP2 transcripts are alternatively spliced to generate two protein isoforms (MeCP2_e1 and MeCP2_e2) that differ at...
F1000Res - issue: - volume: 2 - pages: 204.

Maione, L.  et al. 2013

R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of...
PLoS ONE - issue: 7 - volume: 8 - pages: e69616.

Yajima, I.  et al. 2013

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

Tanyalcin, I.  et al. 2013

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review

Background: The BIG2 protein, coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of...
Eur. J. Paediatr. Neurol. - issue: 6 - volume: 17 - pages: 666-670.

Tanyalçin, I.  et al. 2013

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review

BACKGROUND: The BIG2 protein, coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of...
Eur. J. Paediatr. Neurol. - issue: 6 - volume: 17 - pages: 666-670.

Sanchez-Mut, JV.  et al. 2013

DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease

The central nervous system has a pattern of gene expression that is closely regulated with respect to functional and anatomical regions. DNA methylation is a major regulator of transcriptional...
Brain - issue: Pt 10 - volume: 136 - pages: 3018-3027.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Van Maldergem, L.  et al. 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID...
Hum. Mol. Genet. - issue: 16 - volume: 22 - pages: 3306-3314.

Van Maldergem, L.  et al. 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID...
Hum. Mol. Genet. - issue: 16 - volume: 22 - pages: 3306-3314.

Milh, M.  et al. 2013

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy

Early-onset epileptic encephalopathies (EOEEs) are a group of rare devastating epileptic syndromes of infancy characterized by severe drug-resistant seizures and electroencephalographic abnormalities....
Hum. Mutat. - issue: 6 - volume: 34 - pages: 869-872.

Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.

Cuny, T.  et al. 2013

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

CONTEXT: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise,...
Eur. J. Endocrinol. - issue: 4 - volume: 168 - pages: 533-541.

Albarel, F.  et al. 2013

Outcome of multimodal therapy in operated acromegalic patients, a study in 115 patients

INTRODUCTION: Given the new therapeutic options in acromegaly, it seemed important to evaluate the outcome of operated acromegalic patients today. OBJECTIVE: To analyse the characteristics and short-...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 78 - pages: 263-270.

Golzio, C.  et al. 2012

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS ONE - issue: 1 - volume: 7 - pages: e30677.

Lamine, F.  et al. 2012

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best...
Pituitary - issue: - volume: 15 Suppl 1 - pages: S81-86.

Budry, L.  et al. 2012

The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling

The anterior and intermediate lobes of the pituitary gland derive from the surface ectoderm. They provide a simple system to assess mechanisms of developmental identity established by tissue...
Genes Dev. - issue: 20 - volume: 26 - pages: 2299-2310.

Langrand, C.  et al. 2012

Hypothalamo-pituitary sarcoidosis: a multicenter study of 24 patients

AIM: To assess clinical features, treatment and outcome of Hypothalamo-pituitary (HP) sarcoidosis and to determine whether HP is associated with a particular clinical phenotype of sarcoidosis. DESIGN:...
QJM - issue: 10 - volume: 105 - pages: 981-995.

Bachelot, A.  et al. 2012

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

OBJECTIVE: Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis...
Eur. J. Endocrinol. - issue: 4 - volume: 167 - pages: 499-505.

Krupp, DR.  et al. 2012

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)

BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established...
Birth Defects Res. Part A Clin. Mol. Teratol. - issue: 9 - volume: 94 - pages: 683-692.

Grillo, E.  et al. 2012

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

Rett syndrome (RTT) is a neurodevelopmental disorder with one principal phenotype and several distinct, atypical variants (Zappella, early seizure onset and congenital variants). Mutations in MECP2...
Hum. Mutat. - issue: 7 - volume: 33 - pages: 1031-1036.

Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.

Van Der Werf, CS.  et al. 2012

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with...
Gastroenterology - issue: 3 - volume: 142 - pages: 453-462.e3.

Roux, J.  et al. 2012

Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway

Mecp2 deficiency or overexpression causes a wide spectrum of neurological diseases in humans among which Rett Syndrome is the prototype. Pathogenic mechanisms are thought to involve transcriptional...
Neurobiol. Dis. - issue: 2 - volume: 45 - pages: 786-795.

Roux, J.  et al. 2012

[Unexpected link between Huntington disease and Rett syndrome]


Med Sci (Paris) - issue: 1 - volume: 28 - pages: 44-46.

Milh, M.  et al. 2011

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

PURPOSE: STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset...
Epilepsia - issue: 10 - volume: 52 - pages: 1828-1834.

Etchevers, H.  et al. 2011

Primary culture of chick, mouse or human neural crest cells

A highly enriched population of neural crest cells (NCCs) from amniote embryos, such as from chicks, mice and humans, is desirable for experiments in fate determination. NCCs are also useful for...
Nat Protoc - issue: 10 - volume: 6 - pages: 1568-1577.

Macé, M.  et al. 2011

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

PURPOSE: To decipher the biological pathways involved in keratoconus pathophysiology by determining the patterns of differential gene expression between keratoconus and control corneas. METHODS: RNA...
Invest Ophthalmol Vis Sci - issue: 9 - volume: 52 - pages: 6181-6191.

Krengel, S.  et al. 2011

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, T


Pigment Cell Melanoma Res - issue: 4 - volume: 24 - pages: E1-6.

Panayotis, N.  et al. 2011

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain

BACKGROUND: Rett syndrome (RTT, MIM #312750) is a severe neurological disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Female patients are affected with an...
BMC Neurosci - issue: - volume: 12 - pages: 47.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

Mégarbané, A.  et al. 2011

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The...
Am. J. Med. Genet. A - issue: 5 - volume: 155A - pages: 1147-1151.

Ravel, A.  et al. 2011

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some...
Am. J. Med. Genet. A - issue: 4 - volume: 155A - pages: 880-884.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

Panayotis, N.  et al. 2011

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the MECP2 gene, in which older patients often develop parkinsonian features. Although Mecp2 has been shown to modulate the...
Neurobiol. Dis. - issue: 2 - volume: 41 - pages: 385-397.

Pratte, M.  et al. 2011

Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice

The methyl-CpG binding protein 2 (Mecp2) gene encodes a nuclear transcriptional modulator highly expressed in post-mitotic neurons. Mutations of this gene cause a large spectrum of neurological...
Behav. Brain Res. - issue: 1 - volume: 216 - pages: 313-320.

Neul, JL.  et al. 2010

Rett syndrome: revised diagnostic criteria and nomenclature

OBJECTIVE: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2...
Ann. Neurol. - issue: 6 - volume: 68 - pages: 944-950.

Cacciagli, P.  et al. 2010

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced...
Eur. J. Hum. Genet. - issue: 12 - volume: 18 - pages: 1360-1363.

Endele, S.  et al. 2010

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits each form highly...
Nat. Genet. - issue: 11 - volume: 42 - pages: 1021-1026.

Bahi-Buisson, N.  et al. 2010

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and...
Brain - issue: 11 - volume: 133 - pages: 3194-3209.

Thomas, S.  et al. 2010

High-throughput sequencing of a 4.1?Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.

Chaabouni, M.  et al. 2010

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.

Roux, J.  et al. 2010

Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice

Methyl-CpG binding protein 2 (MeCP2) is a transcriptional regulator. Mutations in this gene cause a wide range of neurological disorders. Mecp2 deficiency has been previously associated to...
J. Neurosci. Res. - issue: 7 - volume: 88 - pages: 1500-1509.

Thienpont, B.  et al. 2010

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

BACKGROUND: The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed...
J. Med. Genet. - issue: 3 - volume: 47 - pages: 155-161.

Mignon-Ravix, C.  et al. 2010

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

BACKGROUND: Malformations of cortical development are not rare and cause a wide spectrum of neurological diseases based on the affected region in the cerebral cortex. A significant proportion of these...
J. Med. Genet. - issue: 2 - volume: 47 - pages: 132-136.

Roux, J.  et al. 2010

Biogenic amines in Rett syndrome: the usual suspects

Rett syndrome (RTT) is a severe postnatal neurological disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. In affected children, most biological parameters, including brain...
Behav. Genet. - issue: 1 - volume: 40 - pages: 59-75.

Mencarelli, MA.  et al. 2010

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder representing one of the most common genetic causes of mental retardation in girls. The classic form is caused by MECP2 mutations. In...
J. Med. Genet. - issue: 1 - volume: 47 - pages: 49-53.

Bessi, .  et al. 2009

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with...
Eur J Med Genet - issue: 6 - volume: 52 - pages: 386-392.

Solé, G.  et al. 2009

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are responsible for the X linked dominant form of...
J. Neurol. Neurosurg. Psychiatry - issue: 12 - volume: 80 - pages: 1394-1398.

Cantagrel, V.  et al. 2009

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation

We previously identified an inactivating disruption of the X-linked KIAA2022 gene by a chromosomal rearrangement in two male patients with severe mental retardation. In order to determine if KIAA2022...
Gene Expr. Patterns - issue: 6 - volume: 9 - pages: 423-429.

de Pontual, L.  et al. 2009

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.

Haddad, M.  et al. 2009

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

Moderate mental retardation (MR) could affect up to 3% of the general population. A proportion of these cases has a genetic origin. Genes responsible for mental retardation can be identified taking...
Eur J Med Genet - issue: 4 - volume: 52 - pages: 211-217.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Chassaing, N.  et al. 2009

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

de Pontual, L.  et al. 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

Cardoso, C.  et al. 2009

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have...
Neurology - issue: 9 - volume: 72 - pages: 784-792.

Benko, S.  et al. 2009

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Roux, J.  et al. 2008

Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse

Mutations in the gene encoding the transcriptional methyl-CpG binding protein 2 (Mecp2) cause a wide range of neurological disorders and the better known of these diseases is Rett syndrome (RS). Mecp2...
Neurosci. Lett. - issue: 1 - volume: 447 - pages: 82-86.

Sajedi, E.  et al. 2008

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

Giurgea, I.  et al. 2008

TCF4 deletions in Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth,...
Hum. Mutat. - issue: 11 - volume: 29 - pages: E242-251.

Thomas, S.  et al. 2008

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.

Dura, E.  et al. 2008

Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem

Methyl CpG binding protein 2 (MeCP2) is a member of the methylated DNA binding protein family able to modulate the transcription of target genes. Mutations in MECP2 lead to a wide range of...
Brain Res. - issue: - volume: 1236 - pages: 176-184.

Lequeux, L.  et al. 2008

Confirmation of RAX gene involvement in human anophthalmia

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.

Bahi-Buisson, N.  et al. 2008

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we...
J. Med. Genet. - issue: 10 - volume: 45 - pages: 647-653.

Viola, A.  et al. 2007

Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model

BACKGROUND: Rett syndrome (RS) is the leading cause of profound mental retardation of genetic origin in girls. Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such...
PLoS ONE - issue: 1 - volume: 2 - pages: e157.

Moncla, A.  et al. 2007

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

Overexpression of the C-type natriuretic peptide, encoded by the NPPC gene in 2q37.1, was recently reported in a patient presenting an overgrowth phenotype and a balanced t(2;7)(q37.1;q21.3)...
Hum. Mutat. - issue: 12 - volume: 28 - pages: 1183-1188.

de Pontual, L.  et al. 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.

Roux, J.  et al. 2007

[Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model]


Med Sci (Paris) - issue: 10 - volume: 23 - pages: 805-807.

Villard, L.  et al. 2007

MECP2 mutations in males

Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental...
J. Med. Genet. - issue: 7 - volume: 44 - pages: 417-423.

Golzio, C.  et al. 2007

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...
Am. J. Hum. Genet. - issue: 6 - volume: 80 - pages: 1179-1187.

Etchevers, H.  et al. 2007

[Genetic and molecular bases of neurocristopathies]


Arch Pediatr - issue: 6 - volume: 14 - pages: 668-672.

Cantagrel, V.  et al. 2007

Truncation of NHEJ1 in a patient with polymicrogyria

Polymicrogyria (PMG) is a common malformation of the human cerebral cortex for which both acquired and genetic causes are known. Although genetic heterogeneity is documented, only one gene is...
Hum. Mutat. - issue: 4 - volume: 28 - pages: 356-364.

Baala, L.  et al. 2007

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.

Roux, J.  et al. 2007

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

Rett syndrome (RS) is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein2 (MECP2) gene. No effective treatment exists. We previously showed...
Eur. J. Neurosci. - issue: 7 - volume: 25 - pages: 1915-1922.

Martinovic-Bouriel, J.  et al. 2007

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.

Etchevers, HC.  et al. 2006

Molecular bases of human neurocristopathies


Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.

Golzio, C.  et al. 2006

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.

Bienvenu, T.  et al. 2006

The incidence of Rett syndrome in France

Since the description of Rett syndrome, only a handful of epidemiologic studies based only on clinical investigation have been reported. Mutations in the MECP2 gene are associated with Rett syndrome...
Pediatr. Neurol. - issue: 5 - volume: 34 - pages: 372-375.

Sanlaville, D.  et al. 2006

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.

Saywell, V.  et al. 2006

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

Rett syndrome, a neurodevelopmental X-linked disorder, represents the most important genetic cause of severe mental retardation in the female population and results from a mutation in the gene...
Biochem. Biophys. Res. Commun. - issue: 3 - volume: 340 - pages: 776-783.

Philippe, C.  et al. 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. Recent studies have identified large gene...
Eur J Med Genet - issue: 1 - volume: 49 - pages: 9-18.

Villard, L.  et al. 2006

[Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model]


Med Sci (Paris) - issue: 1 - volume: 22 - pages: 81-83.

Iurov, II.  et al. 2005

[Epigenetic study of Rett's syndrome as an adequate model for autistic disorders]

Rett's syndrome (RTT) is a severe hereditary disorder of the nervous system. MECP2 gene mutations are considered as a primary cause of the disease. In the present study, we have found MECP2 mutations...
Zh Nevrol Psikhiatr Im S S Korsakova - issue: 7 - volume: 105 - pages: 4-11.

Etchevers, HC.  et al. 2005

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

NF-E2-related factor 3 (Nrf3) is a recently identified member of a family of transcription factors homologous to the Drosophila "cap 'n' collar" or CNC protein. The cnc gene is located immediately 3'...
Int. J. Dev. Biol. - issue: 2-3 - volume: 49 - pages: 363-367.

Viemari, J.  et al. 2005

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

Rett syndrome is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein 2 (MECP2) gene and suffer from bioaminergic deficiencies and...
J. Neurosci. - issue: 50 - volume: 25 - pages: 11521-11530.

Chabrol, B.  et al. 2005

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar...
Am. J. Med. Genet. A - issue: 4 - volume: 138 - pages: 314-317.

Deak, KL.  et al. 2005

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been...
Hum. Genet. - issue: 2-3 - volume: 117 - pages: 133-142.

Detrait, E.  et al. 2005

[Vascularization of the head and neck during development]

One of the earliest priorities of the embryonic vascular system is to ensure the metabolic needs of the head. This review covers some of the principles that govern the cellular assembly and...
J Neuroradiol - issue: 3 - volume: 32 - pages: 147-156.

Detrait, ER.  et al. 2005

Human neural tube defects: developmental biology, epidemiology, and genetics

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are...
- issue: - volume: - pages: .

Cai, J.  et al. 2005

Gene expression in pharyngeal arch 1 during human embryonic development

Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant...
Hum. Mol. Genet. - issue: 7 - volume: 14 - pages: 903-912.

Karmous-Benailly, H.  et al. 2005

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other...
Am. J. Hum. Genet. - issue: 3 - volume: 76 - pages: 493-504.

Trueba, SS.  et al. 2005

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1, or FOXE1 may account for congenital...
J. Clin. Endocrinol. Metab. - issue: 1 - volume: 90 - pages: 455-462.

Lower, KM.  et al. 2004

Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?

BACKGROUND/AIMS: Two half-brothers with similar malformed genitals, who both inherited a maternally derived t(X;5)(q13;p15) translocation, have a phenotype consistent with partial androgen sensitivity...
Horm. Res. - issue: 4 - volume: 62 - pages: 208-214.

Cantagrel, V.  et al. 2004

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

BACKGROUND: Mental retardation (MR) affects 2-3% of the human population and some of these cases are genetically determined. Although several genes responsible for MR have been identified, many cases...
J. Med. Genet. - issue: 10 - volume: 41 - pages: 736-742.

Pinson, L.  et al. 2004

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome


J. Med. Genet. - issue: 5 - volume: 41 - pages: 381-386.

Philip, N.  et al. 2003

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia


J. Med. Genet. - issue: 6 - volume: 40 - pages: 441-446.

Amiel, J.  et al. 2003

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core...
Nat. Genet. - issue: 4 - volume: 33 - pages: 459-461.

Etchevers, HC.  et al. 2003

Early expression of hypoxia-inducible factor 1alpha in the chicken embryo

Hypoxia is known to regulate angiogenesis and tissue growth by the induction of the alpha subunit of the heterodimeric transcription factor, hypoxia-inducible factor 1. The expression pattern of...
Gene Expr. Patterns - issue: 1 - volume: 3 - pages: 49-52.

Vorsanova, SG.  et al. 2002

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 gene (MECP2). We carried out a mutations analysis in Russian cohort of patients with...
Zh Nevrol Psikhiatr Im S S Korsakova - issue: 10 - volume: 102 - pages: 23-29.

Bienvenu, T.  et al. 2002

Spectrum of MECP2 mutations in Rett syndrome

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. We have collected the results of MECP2...
Genet. Test. - issue: 1 - volume: 6 - pages: 1-6.

Braybrook, C.  et al. 2002

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a Mendelian, semidominant X-linked disorder and has been described in several large families from different ethnic origins. It is a...
Hum. Mol. Genet. - issue: 22 - volume: 11 - pages: 2793-2804.

Etchevers, HC.  et al. 2002

Morphogenesis of the branchial vascular sector

The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that...
Trends Cardiovasc. Med. - issue: 7 - volume: 12 - pages: 299-304.

Villard, L.  et al. 2002

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)


Eur. J. Hum. Genet. - issue: 4 - volume: 10 - pages: 223-225.

Villard, L.  et al. 2002

A locus for bilateral perisylvian polymicrogyria maps to Xq28

Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and...
Am. J. Hum. Genet. - issue: 4 - volume: 70 - pages: 1003-1008.

Lossi, AM.  et al. 2002

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a...
J. Med. Genet. - issue: 2 - volume: 39 - pages: 113-117.

Moncla, A.  et al. 2002

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

Numerous recent reports have proposed that mutations in the C-terminal domain of the MECP2 gene could be a frequent cause of mental retardation in males. We have identified two mutations in this...
Eur. J. Hum. Genet. - issue: 1 - volume: 10 - pages: 86-89.

Villard, L.  et al. 2001

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

BACKGROUND: Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2...
J. Med. Genet. - issue: 7 - volume: 38 - pages: 435-442.

Etchevers, HC.  et al. 2001

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain

Most connective tissues in the head develop from neural crest cells (NCCs), an embryonic cell population present only in vertebrates. We show that NCC-derived pericytes and smooth muscle cells are...
Development - issue: 7 - volume: 128 - pages: 1059-1068.

Briault, S.  et al. 2000

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

FG syndrome is an X-linked condition comprising mental retardation, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations. In a linkage analysis, we...
Am. J. Med. Genet. - issue: 2 - volume: 95 - pages: 178-181.

Villard, L.  et al. 2000

Two affected boys in a Rett syndrome family: clinical and molecular findings

BACKGROUND: The authors report a family in which two boys had severe neonatal encephalopathy of unknown origin. They both presented with the same condition and died of severe apnea before they were 1...
Neurology - issue: 8 - volume: 55 - pages: 1188-1193.

Lossi, AM.  et al. 2000

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families


Am. J. Med. Genet. - issue: 5 - volume: 94 - pages: 386-388.

Laugier-Anfossi, F.  et al. 2000

Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain

We are conducting a systematic transcriptional mapping of the Xq12-q21 region of the human X chromosome in order to identify new genes potentially involved in X-linked mental retardation phenotypes....
Gene - issue: 2 - volume: 255 - pages: 289-296.

Bienvenu, T.  et al. 2000

MECP2 mutations account for most cases of typical forms of Rett syndrome

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases...
Hum. Mol. Genet. - issue: 9 - volume: 9 - pages: 1377-1384.

Villard, L.  et al. 2000

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome


Am. J. Med. Genet. - issue: 1 - volume: 91 - pages: 83-85.

Villard, L.  et al. 2000

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome...
Eur. J. Hum. Genet. - issue: 2 - volume: 8 - pages: 125-129.

Friez, MJ.  et al. 2000

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

A recent study suggested that a dodecamer duplication in exon 42 of the HOPA gene in Xq13 may be a significant factor in the etiology of X-linked mental retardation. In an effort to investigate this...
Hum. Genet. - issue: 1 - volume: 106 - pages: 36-39.

Duprez, D.  et al. 1999

Expression of Frzb-1 during chick development

We cloned the chick homolog of Xenopus and mouse Frzb-1, a secreted Wnt antagonist and performed in situ hybridizations to determine the pattern of cFrzb-1 expression in the developing chick embryo....
Mech. Dev. - issue: 1-2 - volume: 89 - pages: 179-183.

Lévy, N.  et al. 1999

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis


Hum. Mutat. - issue: 5 - volume: 14 - pages: 448.

Villard, L.  et al. 1999

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X) (p11.1q13.1) and case 2...
J. Med. Genet. - issue: 10 - volume: 36 - pages: 754-758.

Villard, L.  et al. 1999

Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene

We report the characterization of a new Caenorhabditis elegans gene, xnp-1, that encodes the closest known non-mammalian relative of the human XNP/ATR-X protein. Mutations in the corresponding gene...
Gene - issue: 1 - volume: 236 - pages: 13-19.

Lossi, AM.  et al. 1999

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias


Am. J. Hum. Genet. - issue: 2 - volume: 65 - pages: 558-562.

Etchevers, HC.  et al. 1999

Anterior cephalic neural crest is required for forebrain viability

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part...
Development - issue: 16 - volume: 126 - pages: 3533-3543.

Abidi, F.  et al. 1999

Carpenter-Waziri syndrome results from a mutation in XNP


Am. J. Med. Genet. - issue: 3 - volume: 85 - pages: 249-251.

Villard, L.  et al. 1999

Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene

The human Xq11-Xq21.3 region has been implicated in several inherited disorders including dystonia-parkinsonism (DYT3), sideroblastic anemia and several specific and non-specific forms of mental...
Gene - issue: 1-2 - volume: 235 - pages: 43-50.

Holden, J. J.  et al. 1999

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997


Am. J. Med. Genet. - issue: 4 - volume: 83 - pages: 221-236.

Villard, L.  et al. 1999

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene...
J. Med. Genet. - issue: 3 - volume: 36 - pages: 183-186.

Tassone, F.  et al. 1999

Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes

A cosmid containing the beta-amyloid precursor protein (APP) from Fugu rubripes has been completely sequenced. In addition to APP, the cosmid contains the E4TF1-60 transcription factor, the U2AF35...
Gene - issue: 2 - volume: 226 - pages: 211-223.

Cardoso, C.  et al. 1998

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

Mutations in the XNP gene result in different inherited disorders, including the ATR-X syndrome which is characterized by mental retardation (MR) associated with alpha-thalaessemia. Amino acid...
Hum. Mol. Genet. - issue: 4 - volume: 7 - pages: 679-684.

Villard, L.  et al. 1998

Analysis of pufferfish homologues of the AT-rich human APP gene

Mutations in the beta-amyloid precursor protein (APP) gene are associated with some forms of Familial Alzheimer's Disease. The human APP gene is large, the 19 exons span approximately 300 kb, and...
Gene - issue: 1 - volume: 210 - pages: 17-24.

Villard, L.  et al. 1997

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase

The XNP/ATR-X gene is involved in several X-linked mental retardation phenotypes: the ATR-X syndrome, the Juberg-Marsidi syndrome, and some severe mental retardation phenotypes without...
Genomics - issue: 2 - volume: 43 - pages: 149-155.

Ronce, N.  et al. 1997

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family


Am. J. Hum. Genet. - issue: 1 - volume: 61 - pages: 233-238.

Villard, L.  et al. 1997

Map location, genomic organization and expression patterns of the human RED1 RNA editase

A cDNA fragment containing sequences homologous to the rat RED1 RNA editase gene was recently identified on human chromosome 21. Here we report the location of this cDNA in distal 21q22.3 near the...
Somat. Cell Mol. Genet. - issue: 2 - volume: 23 - pages: 135-145.

Villard, L.  et al. 1996

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia

We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene...
Eur. J. Hum. Genet. - issue: 6 - volume: 4 - pages: 316-320.

Raynaud, M.  et al. 1996

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental...
Am. J. Med. Genet. - issue: 1 - volume: 64 - pages: 97-106.

Villard, L.  et al. 1996

XNP mutation in a large family with Juberg-Marsidi syndrome


Nat. Genet. - issue: 4 - volume: 12 - pages: 359-360.

Villard, L.  et al. 1996

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked...
Am. J. Hum. Genet. - issue: 3 - volume: 58 - pages: 499-505.

Villard, L.  et al. 1995

Use of interspersed repetitive sequences-PCR products for cDNA selection

In order to increase the efficiency of cDNA selection approaches, we describe the use of interspersed repetitive sequences-PCR (IRS-PCR) products to isolate genes from large-insert genomic clones....
Mamm. Genome - issue: 9 - volume: 6 - pages: 617-622.

Gibbons, RJ.  et al. 1995

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results...
Cell - issue: 6 - volume: 80 - pages: 837-845.

Villard, L.  et al. 1995

Construction of a YAC contig spanning the Xq13.3 subband

The loci involved in several X-linked mental retardation syndromes have been linked to the pericentromeric region of the X chromosome long arm (Xq12-q21). To isolate candidate genes for these...
Genomics - issue: 1 - volume: 26 - pages: 115-122.

Clark, PA.  et al. 1994

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21

The three microsatellite repeat loci, DXS986, DXS995, and DXS1002, have been mapped to Xq13.2-21.1. We report here their relative order and their localisation within Xq21. These loci will be useful...
J. Med. Genet. - issue: 4 - volume: 31 - pages: 344-345.

Gecz, J.  et al. 1994

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental...
Hum. Mol. Genet. - issue: 1 - volume: 3 - pages: 39-44.

Gecz, J.  et al. 1993

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

Several new techniques for isolation expressed sequences have been recently described considerably speeding up the identification of unknown genes. Here we present a transcriptional map of the 1 Mb...
Hum. Mol. Genet. - issue: 9 - volume: 2 - pages: 1389-1396.

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