MMG PUBLICATIONS

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Results: 4168  publications found.

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.

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

- issue: 3 - volume: 21 - pages: 553-563.

Krahn, M.  et al. 2019

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

- issue: 3 - volume: 27 - pages: 349-352.

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.

Krahn, M.  et al. 2019

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200...
Eur. J. Hum. Genet. - issue: 3 - volume: 27 - pages: 349-352.

Milleron, O.  et al. 2019

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome An Observational Cohort Study

BACKGROUND: Both bicuspid aortic valve (BAV) and Marfan syndrome have been associated with aortic dissection risk, but it is unknown whether the presence of BAV is associated with an increased aortic...
- issue: 3 - volume: 12 - pages: .

de Nonneville, A.  et al. 2019

Validation of Neutrophil Count as An Algorithm-Based Predictive Factor of Progression-Free Survival in Patients with Metastatic Soft Tissue Sarcomas Treated with Trabectedin

Introduction: Based on a mathematical model of trabectedin-induced neutropenia, we assessed the predictive value of absolute neutrophil count (ANC) on progression-free survival (PFS) in an independent...
- issue: 3 - volume: 11 - pages: .

Chikhaoui, A.  et al. 2019

Identification of a ERCC5 c.2333T > C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles,...
- issue: - volume: 10 - pages: .

Chikhaoui, A.  et al. 2019

Identification of a ERCC5 c.2333T > C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

- issue: - volume: 10 - pages: .

Karolak, JA.  et al. 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a...
- issue: 2 - volume: 104 - pages: 213-228.

Karolak, JA.  et al. 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

- issue: 2 - volume: 104 - pages: 213-228.

Macagno, N.  et al. 2019

Grading of Meningeal Solitary Fibrous Tumors/Hemangiopericytomas: Prognostic Value of the Marseille Grading System in a Cohort of 132 Patients in correlation with molecular data

- issue: 1, SI - volume: 29 - pages: 35-36.

Valdeolivas, A.  et al. 2019

Random walk with restart on multiplex and heterogeneous biological networks

Motivation: Recent years have witnessed an exponential growth in the number of identified interactions between biological molecules. These interactions are usually represented as large and complex...
- issue: 3 - volume: 35 - pages: 497-505.

Giovannini-Chami, L.  et al. 2019

STAT3 gain of function: a new aetiology of severe rheumatic disease

- issue: 2 - volume: 58 - pages: 365-367.

Fultang, L.  et al. 2019

Macrophage-Derived IL1 beta and TNF alpha 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...
- issue: 3 - volume: 79 - pages: 611-624.

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...
- issue: - volume: 205 - pages: 281+.