PUBLICATIONS of MMG

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Résultats : 3193  publications trouvées.

Wang, Q.  et al. 2016

Overview of the interactive task in BioCreative V

Fully automated text mining (TM) systems promote efficient literature searching, retrieval, and review but are not sufficient to produce ready-to-consume curated documents. These systems are not meant...
Database (Oxford) - issue: - volume: 2016 - pages: .

Tabarés-Seisdedos, R.  et al. 2016

Editorial: Direct and Inverse Comorbidities Between Complex Disorders

Front Physiol - issue: - volume: 7 - pages: 117.

Wafo, E.  et al. 2016

A chronicle of the changes undergone by a maritime territory, the Bay of Toulon (Var Coast, France), and their consequences on PCB contamination

This study evaluated the distribution of polychlorinated biphenyls (PCBs) in 39 surface sediment samples and four cores collected in Toulon Bay, a semiclosed area submitted to various anthropogenic...
Springerplus - issue: 1 - volume: 5 - pages: 1230.

Hassanin, A.  et al. 2016

The complete mitochondrial genome of the boky-boky, Mungotictis decemlineata, the first representative of the Malagasy carnivores (Mammalia, Carnivora, Eupleridae)

The complete mitochondrial genome of the boky-boky, Mungotictis decemlineata, was sequenced using overlapping PCRs. The genome is 16,910 base pairs in length and contains the 37 genes found in a...
Mitochondrial DNA A DNA Mapp Seq Anal - issue: 2 - volume: 27 - pages: 908-909.

Robin, JD.  et al. 2016

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes,...
Front Genet - issue: - volume: 7 - pages: 153.

Goldenberg, A.  et al. 2016

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39...
Am. J. Med. Genet. A - issue: 11 - volume: 170 - pages: 2847-2859.

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.

Robin, JD.  et al. 2016

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes,...
Front Genet - issue: - volume: 7 - pages: 153.

Pinard, A.  et al. 2016

Actionable Genes, Core Databases, and Locus-Specific Databases

Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.

Ittel, A.  et al. 2016

Molecular combing: A new tool in diagnosing leukemia

BACKGROUND: According to the World Health Organization (WHO), recurrent cytogenetic abnormalities define many specific groups of hematopoietic tumors of acute myeloid and lymphoblastic leukemia, and...
Cancer Biomark - issue: 4 - volume: 17 - pages: 405-409.

Sakellariou, P.  et al. 2016

Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts

BACKGROUND: Studies of the pathogenic mechanisms underlying human myopathies and muscular dystrophies often require animal models, but models of some human diseases are not yet available. Methods to...
Skelet Muscle - issue: - volume: 6 - pages: 4.

Ittel, A.  et al. 2016

Molecular combing: A new tool in diagnosing leukemia

BACKGROUND: According to the World Health Organization (WHO), recurrent cytogenetic abnormalities define many specific groups of hematopoietic tumors of acute myeloid and lymphoblastic leukemia, and...
Cancer Biomark - issue: 4 - volume: 17 - pages: 405-409.

Vernet, N.  et al. 2016

Mouse Y-Encoded Transcription Factor Zfy2 Is Essential for Sperm Head Remodelling and Sperm Tail Development

A previous study indicated that genetic information encoded on the mouse Y chromosome short arm (Yp) is required for efficient completion of the second meiotic division (that generates haploid round...
PLoS ONE - issue: 1 - volume: 11 - pages: e0145398.

Matagne, V.  et al. 2016

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.

Matagne, V.  et al. 2016

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.

Pinard, A.  et al. 2016

Actionable Genes, Core Databases, and Locus-Specific Databases

Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.

Salgado, D.  et al. 2016

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

High-throughput sequencing technologies have become fundamental for the identification of disease-causing mutations in human genetic diseases both in research and clinical testing contexts. The...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1272-1282.

Kim, W.  et al. 2016

Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer

Telomerase is expressed in early human development and then becomes silenced in most normal tissues. Because ~90% of primary human tumors express telomerase and generally maintain very short...
PLoS Biol. - issue: 12 - volume: 14 - pages: e2000016.

Pinard, A.  et al. 2016

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1308-1317.

Pinard, A.  et al. 2016

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1308-1317.