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Results: 3193  publications found.

Rouen, A.  et al. 2022

Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.

OBJECTIVE: To study the diagnostic yield, including variants in genes yet to be incriminated, of whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI). DESIGN:...
Fertil Steril - issue: 4 - volume: 117 - pages: 843-853.

Aouchiche, K.  et al. 2022

Teriparatide administration by the Omnipod pump: preliminary experience from two cases with refractory hypoparathyroidism.

CONTEXT: Hypoparathyroidism (hypoPTH) in adults is mainly due to total thyroidectomy. Conventional therapies (calcium, active vitamin D) can fail to normalize calcemia, expose the patient to...
Endocrine - issue: 1 - volume: 76 - pages: 179-188.

Castinetti, F.  et al. 2022

Controversies about the systematic preoperative pharmacological treatment before pheochromocytoma or paraganglioma surgery.

The question of systematic use of a pharmacological treatment before surgery in patients diagnosed with pheochromocytoma and paraganglioma (PPGL) remains highly controversial. While recent guidelines...
Eur J Endocrinol - issue: 5 - volume: 186 - pages: D17-D24.

Molines, E.  et al. 2022

[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: 2 - volume: 42 - pages: 113-118.

Arnaud, L.  et al. 2022

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

BACKGROUND: The EPIGENE network was created in 2014 by four multidisciplinary teams composed of geneticists, pediatric neurologists and neurologists specialized in epileptology and neurophysiology....
Eur J Med Genet - issue: 3 - volume: 65 - pages: 104445.

Jaouadi, H.  et al. 2022

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life-threatening arrhythmias, a normal resting electrocardiogram and the absence of overt...
Clin Case Rep - issue: 10 - volume: 2 - pages: e05339.

Sahakian, N.  et al. 2022

Current and Emerging Medical Therapies in Pituitary Tumors.

Pituitary tumors (PT) represent in, the majority of cases, benign tumors for which surgical treatment still remains, except for prolactin-secreting PT, the first-line therapeutic option. Nonetheless,...
J Clin Med - issue: 4 - volume: 11 - pages: .

Lasbleiz, A.  et al. 2022

Familial hypocalciuric hypercalcemia: the challenge of diagnosis.

Endocrine - issue: 2 - volume: 75 - pages: 646-649.

d'Artigues, J.  et al. 2022

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: 1 - volume: 25 - pages: 191-200.

Gaudy-Marqueste, C.  et al. 2022

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: 2 - volume: 86 - pages: 312-321.

Wilmerding, A.  et al. 2022

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.

Macagno, N.  et al. 2022

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.

Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological...
Cancers (Basel) - issue: 3 - volume: 14 - pages: .

Rochdi, K.  et al. 2022

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder

BACKGROUND AND AIMS: The identification of underlying genes of genetic conditions has expanded greatly in the past decades, which has broadened the field of genes responsible for inherited...
Clin Chim Acta - issue: - volume: 524 - pages: 51-58.

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.

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.

Ballouhey, O.  et al. 2021

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle...
Front Cell Dev Biol - issue: - volume: 9 - pages: 754555.

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....
Fac Rev - issue: - volume: 10 - pages: 59.

Haniffa, M.  et al. 2021

Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

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...
- issue: - volume: - pages: in review.

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.

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.