MMG PUBLICATIONS

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Results: 4196  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...
- 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

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

Tsuge, Y.  et al. 2019

Enhanced production of d-lactate from mixed sugars in Corynebacterium glutamicum by overexpression of glycolytic genes encoding phosphofructokinase and triosephosphate isomerase

The use of mixed sugars containing glucose and xylose in lignocellulosic biomass is desirable for the microbial production of chemicals and fuels. We investigated the effect of individual or...
J. Biosci. Bioeng. - issue: 3 - volume: 127 - pages: 288-293.

Milleron, O.  et al. 2019

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

- 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

- issue: 3 - volume: 11 - pages: .

Romanet, P.  et al. 2019

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

- issue: 3 - volume: 104 - pages: 753-764.

Etchevers, HC.  et al. 2019

The diverse neural crest: from embryology to human pathology

- issue: 5 - volume: 146 - pages: .

Brue, T.  et al. 2019

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

- issue: 3 - volume: 63 - pages: 563-572.

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: .