PUBLICATIONS MMG

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Résultats : 2250  publications trouvées.

Duddy, W.  et al. 2015

Muscular dystrophy in the mdx mouse is a severe myopathy compounded by hypotrophy, hypertrophy and hyperplasia

Background Preclinical testing of potential therapies for Duchenne muscular dystrophy (DMD) is conducted predominantly of the mdx mouse. But lack of a detailed quantitative description of the...
Skelet Muscle - issue: - volume: 5 - pages: .


Papoutsi, T.  et al. 2015

Msx1CreERT2 knock-In allele: A useful tool to target embryonic and adult cardiac valves

Heart valve development begins with the endothelial-to-mesenchymal transition (EMT) of endocardial cells. Although lineage studies have demonstrated contributions from cardiac neural crest and...
Genesis - issue: 5 - volume: 53 - pages: 337-345.


Joly, D.  et al. 2015

Rare inherited disorders with renal involvement-approach to the patient

The list of rare inherited disorders with renal involvement is rapidly growing. Many are single gene diseases affecting children, but cases are not restricted to pediatrics and diagnosis is often...
Kidney Int. - issue: 5 - volume: 87 - pages: 901-908.


Joly, P.  et al. 2015

[Information for parents of children with sickle cell trait detected by neonatal screening: A 10-year experience]

Arch Pediatr - issue: 5 - volume: 22 - pages: 562-563.


Abboud, N.  et al. 2015

A cohesin-OCT4 complex mediates Sox enhancers to prime an early embryonic lineage.

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.


Abboud, N.  et al. 2015

A cohesin-OCT4 complex mediates Sox enhancers to prime an early embryonic lineage

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.


Abboud, N.  et al. 2015

A cohesin-OCT4 complex mediates Sox enhancers to prime an early embryonic lineage

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.


Abboud, N.  et al. 2015

A cohesin-OCT4 complex mediates Sox enhancers to prime an early embryonic lineage

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.


Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


Bladen, CL.  et al. 2015

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 395-402.


Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


Nissenkorn, A.  et al. 2015

Epilepsy in Rett syndrome-Lessons from the Rett networked database

ObjectiveRett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and...
Epilepsia - issue: 4 - volume: 56 - pages: 569-576.


Sibertin-Blanc, C.  et al. 2015

Vascular Endothelial Growth Factor A c.*237C>T polymorphism is associated with bevacizumab efficacy and related hypertension in metastatic colorectal cancer

BACKGROUND: No predictive marker has been yet identified for bevacizumab which is widely used in metastatic colorectal cancer. AIMS: Evaluate impact of single nucleotide polymorphisms involved in...
Dig Liver Dis - issue: 4 - volume: 47 - pages: 331-337.


Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


Attarian, S.  et al. 2015

Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

INTRODUCTION: A difficult clinical situation occurs when a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patient does not fulfill any of the diagnostic criteria. Moreover, nerve...
Muscle Nerve - issue: 4 - volume: 51 - pages: 541-548.


Nissenkorn, A.  et al. 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database

OBJECTIVE: Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and...
Epilepsia - issue: 4 - volume: 56 - pages: 569-576.


Wolf, MT.  et al. 2015

Naturally derived and synthetic scaffolds for skeletal muscle reconstruction

Skeletal muscle tissue has an inherent capacity for regeneration following injury. However, severe trauma, such as volumetric muscle loss, overwhelms these natural muscle repair mechanisms prompting...
Adv. Drug Deliv. Rev. - issue: - volume: 84 - pages: 208-221.