MMG PUBLICATIONS

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Results: 4196  publications found.

Salort-Campana, E.  et al. 2013

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012]

INTRODUCTION: Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. (Paris) - issue: 8-9 - volume: 169 - pages: 573-582.

Salort-Campana, E.  et al. 2013

Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012

Introduction. - Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. - issue: 8-9 - volume: 169 - pages: 573-582.

Salort-Campana, E.  et al. 2013

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012]

INTRODUCTION: Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. (Paris) - issue: 8-9 - volume: 169 - pages: 573-582.

Humbertclaude, V.  et al. 2013

Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD...
Rev. Neurol. - issue: 8-9 - volume: 169 - pages: 583-594.

Boussouar, A.  et al. 2013

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol Ther Nucleic Acids - issue: - volume: 2 - pages: e116.

Boussouar, A.  et al. 2013

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol Ther Nucleic Acids - issue: - volume: 2 - pages: e116.

Boussouar, A.  et al. 2013

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol Ther Nucleic Acids - issue: - volume: 2 - pages: e116.

Van Maldergem, L.  et al. 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID...
Hum. Mol. Genet. - issue: 16 - volume: 22 - pages: 3306-3314.

Van Maldergem, L.  et al. 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID...
Hum. Mol. Genet. - issue: 16 - volume: 22 - pages: 3306-3314.

Van Maldergem, L.  et al. 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID...
Hum Mol Genet - issue: 16 - volume: 22 - pages: 3306-3314.

Puceat, M.  et al. 2013

Could a pluripotent stem cell give rise to a high yield of a single cell lineage: a myocardial cell?

WOS:000324362900019
Curr. Opin. Genet. Dev. - issue: 4 - volume: 23 - pages: 498-499.

Pujol, P.  et al. 2013

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in...
Breast Cancer Res. Treat. - issue: 1 - volume: 141 - pages: 135-144.

Spinelli, L.  et al. 2013

Clust&See: a Cytoscape plugin for the identification, visualization and manipulation of network clusters

BACKGROUND AND SCOPE: Large networks, such as protein interaction networks, are extremely difficult to analyze as a whole. We developed Clust&See, a Cytoscape plugin dedicated to the identification,...
BioSystems - issue: 2 - volume: 113 - pages: 91-95.

Boussouar, A.  et al. 2013

Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol. Ther.-Nucl. Acids - issue: - volume: 2 - pages: e116.

Spinelli, L.  et al. 2013

Clust&See: a Cytoscape plugin for the identification, visualization and manipulation of network clusters

BACKGROUND AND SCOPE: Large networks, such as protein interaction networks, are extremely difficult to analyze as a whole. We developed Clust&See, a Cytoscape plugin dedicated to the identification,...
BioSystems - issue: 2 - volume: 113 - pages: 91-95.

Puceat, M.  et al. 2013

Could a pluripotent stem cell give rise to a high yield of a single cell lineage: a myocardial cell?

Curr Opin Genet Dev - issue: 4 - volume: 23 - pages: 498-499.

McDonnell, CM.  et al. 2013

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera)

Background: Exclusion from a social group is an effective way to avoid parasite transmission. This type of social removal has also been proposed as a form of collective defense, or social immunity, in...
BMC Ecol. - issue: - volume: 13 - pages: 25.

Pannérec, A.  et al. 2013

Defining skeletal muscle resident progenitors and their cell fate potentials

The satellite cell is the major tissue-resident stem cell underlying muscle regeneration; however, multiple non-satellite myogenic progenitors as well as non-myogenic populations that support the...
Development - issue: 14 - volume: 140 - pages: 2879-2891.

Zufferey, F.  et al. 2013

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro-osteolysis,...
Am. J. Med. Genet. A - issue: 7 - volume: 161A - pages: 1786-1791.

Boubaker, C.  et al. 2013

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family

Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal...
Ann. Hum. Genet. - issue: 4 - volume: 77 - pages: 336-343.