PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Li, J.  et al. 2016

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We...
Am. J. Hum. Genet. - issue: 5 - volume: 98 - pages: 830-842.

Vujovic, S.  et al. 2016

Cancerous leptomeningitis and familial congenital hypopituitarism

People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier...
Endocrine - issue: 2 - volume: 52 - pages: 231-235.

Chateau, A.  et al. 2016

SIRT1 Deficiency in endothelial progenitor cells drives pro-senescent microparticles release through MKK6 upregulation

WOS:000379164000355
J. Thromb. Haemost. - issue: - volume: 14 - pages: 139-139.

Salgado, D.  et al. 2016

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of...
Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.

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.

Renard, D.  et al. 2016

Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation

Neuromuscul. Disord. - issue: 4-5 - volume: 26 - pages: 326-327.

Salgado, D.  et al. 2016

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of...
Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.

Renard, D.  et al. 2016

Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation

Neuromuscul. Disord. - issue: 4-5 - volume: 26 - pages: 326-327.

Salgado, D.  et al. 2016

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of...
Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.

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.

Di Meglio, C.  et al. 2016

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation

Introduction: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) with early...
Brain Dev. - issue: 5 - volume: 38 - pages: 498-506.

Di Meglio, C.  et al. 2016

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation

INTRODUCTION: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early...
Brain Dev. - issue: 5 - volume: 38 - pages: 498-506.

Vernooij, CA.  et al. 2016

Physiological tremor reveals how thixotropy adapts skeletal muscle for posture and movement

People and animals can move freely, but they must also be able to stay still. How do skeletal muscles economically produce both movement and posture? Humans are well known to have motor units with...
R Soc Open Sci - issue: 5 - volume: 3 - pages: 160065.

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.

Di Meglio, C.  et al. 2016

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation

Introduction: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) with early...
Brain Dev. - issue: 5 - volume: 38 - pages: 498-506.

Salgado, D.  et al. 2016

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of...
Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.

Vernooij, CA.  et al. 2016

Physiological tremor reveals how thixotropy adapts skeletal muscle for posture and movement

People and animals can move freely, but they must also be able to stay still. How do skeletal muscles economically produce both movement and posture? Humans are well known to have motor units with...
R Soc Open Sci - issue: 5 - volume: 3 - pages: 160065.

Renard, D.  et al. 2016

Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation

Neuromuscul. Disord. - issue: 4-5 - volume: 26 - pages: 326-327.

Di Meglio, C.  et al. 2016

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation

Introduction: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) with early...
Brain Dev. - issue: 5 - volume: 38 - pages: 498-506.

Salgado, D.  et al. 2016

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of...
Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.