MMG PUBLICATIONS

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Results: 3193  publications found.

Decarpentrie, F.  et al. 2016

Recombination between the mouse Y chromosome short arm and an additional Y short arm-derived chromosomal segment attached distal to the X chromosome PAR

In a male mouse, meiosis markers of processed DNA double strand breaks (DSBs) such as DMC1 and RAD51 are regularly seen in the non-PAR region of the X chromosome; these disappear late in prophase...
Chromosoma - issue: 2 - volume: 125 - pages: 177-188.


Roux, M.  et al. 2016

Hox Genes in Cardiovascular Development and Diseases

Congenital heart defects (CHD) are the leading cause of death in the first year of life. Over the past 20 years, much effort has been focused on unraveling the genetic bases of CHD. In particular,...
J. Dev. Biol. - issue: 2 - volume: 4 - pages: 14.


Roberts, T.  et al. 2016

Flexible Inkjet-Printed Multielectrode Arrays for Neuromuscular Cartography

Flexible Poly(3,4-ethylenedioxythiophene)-poly(styrenesulfonate) ( PEDOT: PSS) conductive-polymer multielectrode arrays (MEAs) are fabricated without etching or aggressive lift-off processes, only by...
Adv Healthc Mater - issue: 12 - volume: 5 - pages: 1462-1470.


Decarpentrie, F.  et al. 2016

Recombination between the mouse Y chromosome short arm and an additional Y short arm-derived chromosomal segment attached distal to the X chromosome PAR

In a male mouse, meiosis markers of processed DNA double strand breaks (DSBs) such as DMC1 and RAD51 are regularly seen in the non-PAR region of the X chromosome; these disappear late in prophase...
Chromosoma - issue: 2 - volume: 125 - pages: 177-188.


Roberts, T.  et al. 2016

Flexible Inkjet-Printed Multielectrode Arrays for Neuromuscular Cartography

Flexible Poly(3,4-ethylenedioxythiophene)-poly(styrenesulfonate) ( PEDOT: PSS) conductive-polymer multielectrode arrays (MEAs) are fabricated without etching or aggressive lift-off processes, only by...
Adv Healthc Mater - issue: 12 - volume: 5 - pages: 1462-1470.


Francou, B.  et al. 2016

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study

STUDY QUESTION: What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with...
Hum. Reprod. - issue: 6 - volume: 31 - pages: 1363-1374.


Castinetti, F.  et al. 2016

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily...
Eur. J. Endocrinol. - issue: 6 - volume: 174 - pages: R239-247.


Castinetti, F.  et al. 2016

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency

Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL...
Horm. Metab. Res. - issue: 6 - volume: 48 - pages: 389-393.


Rampersad, SN.  et al. 2016

EPAC1 promotes adaptive responses in human arterial endothelial cells subjected to low levels of laminar fluid shear stress: Implications in flow-related endothelial dysfunction

Blood flow-associated fluid shear stress (FSS) dynamically regulates the endothelium's ability to control arterial structure and function. While arterial endothelial cells (AEC) subjected to high...
Cell. Signal. - issue: 6 - volume: 28 - pages: 606-619.


Chiapparo, G.  et al. 2016

Mesp1 Controls the Speed, Polarity, and Directionality of Cardiovascular Progenitor Migration

During embryonic development, Mesp1 marks the earliest cardiovascular progenitors (CPs) and promotes their specification, epithelial-mesenchymal transition (EMT), and cardiovascular differentiation....
J Cell Biol - issue: 213 - volume: 4 - pages: 463-477.


Million, M.  et al. 2016

Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition

Severe acute malnutrition (SAM) is associated with inadequate diet, low levels of plasma antioxidants and gut microbiota alterations. The link between gut redox and microbial alterations, however,...
Sci Rep - issue: - volume: 6 - pages: 26051.


Million, M.  et al. 2016

Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition

Severe acute malnutrition (SAM) is associated with inadequate diet, low levels of plasma antioxidants and gut microbiota alterations. The link between gut redox and microbial alterations, however,...
Sci Rep - issue: - volume: 6 - pages: 26051.


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.


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.