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Résultats : 2253  publications trouvées.

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.


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.


Danjou, F.  et al. 2015

A genetic score for the prediction of beta-thalassemia severity

Clinical and hematologic characteristics of beta(beta)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype modulators are: HBB mutations, HBA defects and...
Haematologica - issue: 4 - volume: 100 - pages: 455-460.


Potorac, I.  et al. 2015

Pituitary MRI characteristics in 297 acromegaly patients based on T2-weighted sequences

Responses of GH-secreting adenomas to multimodal management of acromegaly vary widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying factors predictive...
Endocr. Relat. Cancer - issue: 2 - volume: 22 - pages: 169-177.


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 as...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


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 as...
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.


Jerath, NU.  et al. 2015

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Inherited peripheral neuropathies, like many other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than...
Biochim. Biophys. Acta - issue: 4 - volume: 1852 - pages: 667-678.


Bartoli, M.  et al. 2015

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients (vol 50, pg 1007, 2014)

Muscle Nerve - issue: 4 - volume: 51 - pages: 628-628.


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.


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.


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 as...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.


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.