MMG PUBLICATIONS

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Results: 4196  publications found.

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.

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.

Képénékian, L.  et al. 2016

Long-term outcome of macroprolactinomas

OBJECTIVE: Management of macroprolactinomas has dramatically changed in recent decades, from surgical to medical treatment as first-line therapy, with the development of dopamine agonists (DA). But...
Ann. Endocrinol. (Paris) - issue: 6 - volume: 77 - pages: 641-648.

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.

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.

Beroud, C.  et al. 2016

BRCA Share: A Collection of Clinical BRCA Gene Variants

As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1318-1328.

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.

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.

Egesipe, A.  et al. 2016

Metformin decreases progerin expression and alleviates pathological defects of Hutchinson-Gilford progeria syndrome cells

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes systemic accelerated aging in children. This syndrome is due to a mutation in the LMNA gene that leads to the...
npj Aging Mech. Dis. - issue: - volume: 2 - pages: UNSP 16026.

Rapetti-Mauss, R.  et al. 2016

Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel

Haematologica - issue: 11 - volume: 101 - pages: e431-e435.

Soria-Valles, C.  et al. 2016

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

BACKGROUND: Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally...
J. Med. Genet. - issue: 11 - volume: 53 - pages: 776-785.