MMG PUBLICATIONS

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Results: 3193  publications found.

Ahles, A.  et al. 2014

The Arg389Gly polymorphism determines structure and activation kinetics of the human beta(1)-adrenergic receptor

WOS:000359538500093
Naunyn-Schmiedebergs Arch. Pharmacol. - issue: - volume: 387 - pages: S24-S24.

Thompson, BA.  et al. 2014

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for...
Nature Genet. - issue: 2 - volume: 46 - pages: 107-+.

Ibáñez, K.  et al. 2014

Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses

There is epidemiological evidence that patients with certain Central Nervous System (CNS) disorders have a lower than expected probability of developing some types of Cancer. We tested here the...
PLoS Genet. - issue: 2 - volume: 10 - pages: e1004173.

Petersenn, S.  et al. 2014

High variability in baseline urinary free cortisol values in patients with Cushing's disease

OBJECTIVE: Twenty-four-hour urinary free cortisol (UFC) sampling is commonly used to evaluate Cushing's syndrome. Because there are few data on UFC variability in patients with active Cushing's...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 80 - pages: 261-269.

Fabre, A.  et al. 2014

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia...
Intractable Rare Dis Res - issue: 1 - volume: 3 - pages: 8-11.

Villeneuve, N.  et al. 2014

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome

In order to assess the cognitive and adaptive profiles of school-aged patients with Dravet syndrome (DS), we proposed to evaluate the intelligence and adaptive scores in twenty-one 6- to 10-year-old...
Epilepsy Behav - issue: - volume: 31 - pages: 143-148.

Robellet, X.  et al. 2014

A Genetic Screen for Functional Partners of Condensin in Fission Yeast

Mitotic chromosome condensation is a prerequisite for the accurate segregation of chromosomes during cell division, and the conserved condensin complex a central player of this process. However, how...
G3-Genes Genomes Genet. - issue: 2 - volume: 4 - pages: 373-381.

Fabre, A.  et al. 2014

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia...
Intractable Rare Dis Res - issue: 1 - volume: 3 - pages: 8-11.

Ibáñez, K.  et al. 2014

Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses

There is epidemiological evidence that patients with certain Central Nervous System (CNS) disorders have a lower than expected probability of developing some types of Cancer. We tested here the...
PLoS Genet. - issue: 2 - volume: 10 - pages: e1004173.

Villeneuve, N.  et al. 2014

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome

In order to assess the cognitive and adaptive profiles of school-aged patients with Dravet syndrome (DS), we proposed to evaluate the intelligence and adaptive scores in twenty-one 6- to 10-year-old...
Epilepsy Behav - issue: - volume: 31 - pages: 143-148.

Beau-Faller, M.  et al. 2014

A Multicenter Blinded Study Evaluating EGFR and KRAS Mutation Testing Methods in the Clinical Non-Small Cell Lung Cancer Setting-IFCT/ERMETIC2 Project Part 1 Comparison of Testing Methods in 20 French Molecular Genetic National Cancer Institute Platforms

Epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors have limited use as first-line treatment for mutated EGFR metastatic non-small cell lung cancer. The French National Cancer Institute...
J. Mol. Diagn. - issue: 1 - volume: 16 - pages: 45-55.

Frasca, B.  et al. 2014

Comparative study of Se oxyanions retention on three argillaceous rocks: Upper Toarcian (Tournemire, France), Black Shales (Tournemire, France) and Opalinus Clay (Mont Terri, Switzerland)

A comparative study of selenium oxyanion sorption was carried out by means of batch sorption experiments on three argillaceous rocks that differ in their mineralogical compositions and textural...
J Environ Radioact - issue: - volume: 127 - pages: 133-140.

Hamdi, H.  et al. 2014

Long-term functional benefits of epicardial patches as cell carriers

Both enzymatic dissociation of cells prior to needle-based injections and poor vascularization of myocardial infarct areas are two important contributors to cell death and impede the efficacy of...
Cell Transplant - issue: 1 - volume: 23 - pages: 87-96.

Demonbreun, AR.  et al. 2014

Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity

Dysferlin is a membrane-associated protein implicated in muscular dystrophy and vesicle movement and function in muscles. The precise role of dysferlin has been debated, partly because of the mild...
Am. J. Pathol. - issue: 1 - volume: 184 - pages: 248-259.

Frasca, B.  et al. 2014

Comparative study of Se oxyanions retention on three argillaceous rocks: Upper Toarcian (Tournemire, France), Black Shales (Tournemire, France) and Opalinus Clay (Mont Terri, Switzerland)

A comparative study of selenium oxyanion sorption was carried out by means of batch sorption experiments on three argillaceous rocks that differ in their mineralogical compositions and textural...
J Environ Radioact - issue: - volume: 127 - pages: 133-140.

Bladen, CL.  et al. 2014

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the...
J. Neurol. - issue: 1 - volume: 261 - pages: 152-163.

Ferreboeuf, M.  et al. 2014

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Ferreboeuf, M.  et al. 2014

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Kaddoum, L.  et al. 2013

Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain

Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene.  MeCP2 transcripts are alternatively spliced to generate two protein isoforms (MeCP2_e1 and MeCP2_e2) that differ at...
F1000Res - issue: - volume: 2 - pages: 204.

Yajima, I.  et al. 2013

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.