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Results: 2641  publications found.

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: .

Fontana, F.  et al. 2020

Antagonistic Activities of Vegfr3/Flt4 and Notch1b Fine-tune Mechanosensitive Signaling during Zebrafish Cardiac Valvulogenesis.

The formation of cardiac valves depends on mechanical forces exerted by blood flow. Endocardial cells lining the interior of the heart are sensitive to these stimuli and respond by rearranging into...
Cell Rep - issue: 2 - volume: 32 - pages: 107883.

Mégarbané, A.  et al. 2020

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability,...
Am. J. Med. Genet. A - issue: - volume: - pages: e61730.

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.

Mazaleyrat, K.  et al. 2020

Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.

Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling. However, the number protocols for generating...
Cells - issue: 6 - volume: 9 - pages: 1531.

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.

Sánchez-Valle, J.  et al. 2020

Interpreting molecular similarity between patients as a determinant of disease comorbidity relationships

Comorbidity is a medical condition attracting increasing attention in healthcare and biomedical research. Little is known about the involvement of potential molecular factors leading to the emergence...
Nature Comm - issue: 1 - volume: 11 - pages: 2854.

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 ( 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.

Suffee, N.  et al. 2020

Reactivation of the Epicardium at the Origin of Myocardial Fibro-Fatty Infiltration During the Atrial Cardiomyopathy

RATIONALE: Fibro-fatty infiltration of subepicardial layers of the atrial wall has been shown to contribute to the substrate of atrial fibrillation. OBJECTIVE: Here, we examined if the epicardium that...
Circ Res - issue: 10 - volume: 126 - pages: 1330-1342.

Suffee, N.  et al. 2020

Reactivation of the Epicardium at the Origin of Myocardial Fibro-Fatty Infiltration During the Atrial Cardiomyopathy.

Rationale: Fibro-fatty infiltration of subepicardial layers of the atrial wall has been shown to contribute to the substrate of atrial fibrillation. Objective: Here, we examined if the epicardium...
Circ Res - issue: 10 - volume: 126 - pages: 1330-1342.

Bizzari, S.  et al. 2020

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, everted...
Eur J Med Genet - issue: 5 - volume: 63 - pages: 103869.

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.

Cerino, M.  et al. 2020

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

AIMS: The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .

Mazaleyrat, K.  et al. 2020

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic...
Int J Mol Sci - issue: 7 - volume: 21 - pages: 2635.

Gorokhov, M.  et al. 2020

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

In order to properly interpret the results of a diagnostic gene panel sequencing test, gene coverage needs to be taken into consideration. If coverage is too low, an additional re-sequencing test is...
Sci Rep - issue: 1 - volume: 10 - pages: 6247.

Gunawan F., .  et al. 2020

Nfatc1 Promotes Interstitial Cell Formation During Cardiac Valve Development in Zebrafish

Rationale: The transcription factor NFATC1 (nuclear factor of activated T-cell 1) has been implicated in cardiac valve formation in humans and mice, but we know little about the underlying mechanisms....
Circ Res - issue: 126 - volume: 8 - pages: 968-984.