MMG PUBLICATIONS

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Results: 4197  publications found.

Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.

El-Khoury, R.  et al. 2014

GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

Proper brain functioning requires a fine-tuning between excitatory and inhibitory neurotransmission, a balance maintained through the regulation and release of glutamate and GABA. Rett syndrome (RTT)...
PLoS One - issue: 3 - volume: 9 - pages: e92169.

Cacciagli, P.  et al. 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker...
Eur. J. Hum. Genet. - issue: 3 - volume: 22 - pages: 363-368.

Cacciagli, P.  et al. 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker...
Eur. J. Hum. Genet. - issue: 3 - volume: 22 - pages: 363-368.

Jalkh, N.  et al. 2014

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy

PURPOSE: To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS: Clinical data were recorded for five patients of the 14...
Ophthalmic Genet. - issue: 1 - volume: 35 - pages: 57-62.

Jalkh, N.  et al. 2014

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy

PURPOSE: To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS: Clinical data were recorded for five patients of the 14...
Ophthalmic Genet. - issue: 1 - volume: 35 - pages: 57-62.

Colao, A.  et al. 2014

Pasireotide versus octreotide in acromegaly: a head-to-head superiority study

CONTEXT: Biochemical control reduces morbidity and increases life expectancy in patients with acromegaly. With current medical therapies, including the gold standard octreotide long-acting-release...
J. Clin. Endocrinol. Metab. - issue: 3 - volume: 99 - pages: 791-799.

Cacciagli, P.  et al. 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker...
Eur J Hum Genet - issue: 3 - volume: 22 - pages: 363-368.

Defour, A.  et al. 2014

Imaging Cell Membrane Injury and Subcellular Processes Involved in Repair

The ability of injured cells to heal is a fundamental cellular process, but cellular and molecular mechanisms involved in healing injured cells are poorly understood. Here assays are described to...
J. Vis. Exp. - issue: 85 - volume: - pages: e51106.

Defour, A.  et al. 2014

Imaging Cell Membrane Injury and Subcellular Processes Involved in Repair

The ability of injured cells to heal is a fundamental cellular process, but cellular and molecular mechanisms involved in healing injured cells are poorly understood. Here assays are described to...
J. Vis. Exp. - issue: 85 - volume: - pages: e51106.

Becquet, D.  et al. 2014

Evidence for an internal and functional circadian clock in rat pituitary cells

In primary cultures of rat pituitary cells and in a pituitary sommatolactotroph cell line (GH4C1), endogenous core-clock- as well as hormone-genes such as prolactin displayed a rhythmic expression...
Mol. Cell. Endocrinol. - issue: 2 - volume: 382 - pages: 888-898.

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.