MMG PUBLICATIONS

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Results: 2278  publications found.

Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Mazuc, E.  et al. 2014

In-Cell Intrabody Selection from a Diverse Human Library Identifies C12orf4 Protein as a New Player in Rodent Mast Cell Degranulation

The high specificity of antibodies for their antigen allows a fine discrimination of target conformations and post-translational modifications, making antibodies the first choice tool to interrogate...
PLoS One - issue: 8 - volume: 9 - pages: e104998.


Yahiaoui, OI.  et al. 2014

Constitutive AKT activation in follicular lymphoma

Background: The phosphoinositide 3-kinase (PI3K) pathway is involved in the growth of various human cancers, including lymphoid malignancies. However its role in the pathogenesis of follicular...
BMC Cancer - issue: - volume: 14 - pages: 565.


Navarro, CL.  et al. 2014

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density...
Eur. J. Hum. Genet. - issue: 8 - volume: 22 - pages: 1002-1011.


Mignon-Ravix, C.  et al. 2014

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the...
Am. J. Med. Genet. A - issue: 8 - volume: 164A - pages: 1991-1997.


Mignon-Ravix, C.  et al. 2014

Intragenic Rearrangements in X-Linked Intellectual Deficiency: Results of a-CGH in a Series of 54 Patients and Identification of TRPC5 and KLHL15 As Potential XLID Genes

High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the...
Am. J. Med. Genet. A - issue: 8 - volume: 164 - pages: 1991-1997.


Mignon-Ravix, C.  et al. 2014

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the...
Am. J. Med. Genet. A - issue: 8 - volume: 164A - pages: 1991-1997.


Mignon-Ravix, C.  et al. 2014

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the...
Am. J. Med. Genet. A - issue: 8 - volume: 164A - pages: 1991-1997.


van Weerd, JH.  et al. 2014

A large permissive regulatory domain exclusively controls Tbx3 expression in the cardiac conduction system

RATIONALE: The evolutionary conserved Tbx3/Tbx5 gene cluster encodes T-box transcription factors that play crucial roles in the development and homeostasis of the cardiac conduction system in human...
- issue: 4 - volume: 115 - pages: 432-41.


Bannwarth, S.  et al. 2014

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Using whole-exome sequencing, Bannwarth et al. identify a missense mutation in the mitochondrial gene, CHCHD10, in two families with frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS)....
Brain - issue: - volume: 137 - pages: 2329-2345.


Hadj-Rabia, S.  et al. 2014

A New Lamin A Mutation Associated with Acrogeria Syndrome

WOS:000339126100031
J. Invest. Dermatol. - issue: 8 - volume: 134 - pages: 2274-2277.


Wollman, I.  et al. 2014

Influence of vibrotactile feedback on some perceptual features of violins

This paper investigated how auditory and vibrotactile feedback information is integrated within the context of violin quality evaluation. Fifteen violinists evaluated three violins on four...
J. Acoust. Soc. Am. - issue: 2 - volume: 136 - pages: 910-921.


Navarro, CL.  et al. 2014

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density...
Eur. J. Hum. Genet. - issue: 8 - volume: 22 - pages: 1002-1011.


Hadj-Rabia, S.  et al. 2014

A new lamin a mutation associated with acrogeria syndrome

J. Invest. Dermatol. - issue: 8 - volume: 134 - pages: 2274-2277.


Bannwarth, S.  et al. 2014

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Using whole-exome sequencing, Bannwarth et al. identify a missense mutation in the mitochondrial gene, CHCHD10, in two families with frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS)....
Brain - issue: - volume: 137 - pages: 2329-2345.


Thompson, R.  et al. 2014

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype,...
J. Gen. Intern. Med. - issue: - volume: 29 - pages: S780-S787.


Hadj-Rabia, S.  et al. 2014

A new lamin a mutation associated with acrogeria syndrome

J. Invest. Dermatol. - issue: 8 - volume: 134 - pages: 2274-2277.


Wollman, I.  et al. 2014

Influence of vibrotactile feedback on some perceptual features of violins

This paper investigated how auditory and vibrotactile feedback information is integrated within the context of violin quality evaluation. Fifteen violinists evaluated three violins on four...
J. Acoust. Soc. Am. - issue: 2 - volume: 136 - pages: 910-921.