MMG PUBLICATIONS

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Results: 2278  publications found.

Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J. Rare Dis. - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J. Rare Dis. - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J. Rare Dis. - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J. Rare Dis. - issue: - volume: 10 - pages: 2.


Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J. Rare Dis. - issue: - volume: 10 - pages: 2.


Ahles, A.  et al. 2015

Interhelical Interaction and Receptor Phosphorylation Regulate the Activation Kinetics of Different Human beta(1)-Adrenoceptor Variants

G protein-coupled receptors represent the largest class of drug targets, but genetic variation within G protein-coupled receptors leads to variable drug responses and, thereby, compromises their...
J. Biol. Chem. - issue: 3 - volume: 290 - pages: 1760-1769.


Brossaud, J.  et al. 2015

Urinary glucocorticoid metabolites: biomarkers to classify adrenal incidentalomas?

OBJECTIVE: Total urinary cortisol metabolites represent cortisol production and metabolism. We hypothesized that to assay metabolites could add some information to the one provided by a sole cortisol...
Clin. Endocrinol. (Oxf) - issue: - volume: - pages: .


Brossaud, J.  et al. 2015

Urinary glucocorticoid metabolites: biomarkers to classify adrenal incidentalomas?

OBJECTIVE: Total urinary cortisol metabolites represent cortisol production and metabolism. We hypothesized that to assay metabolites could add some information to the one provided by a sole cortisol...
Clin. Endocrinol. (Oxf) - issue: - volume: - pages: .


Kadaré, G.  et al. 2015

Conformational dynamics of the focal adhesion targeting domain control specific functions of focal adhesion kinase in cells

Focal adhesion (FA) kinase (FAK) regulates cell survival and motility by transducing signals from membrane receptors. The C-terminal FA targeting (FAT) domain of FAK fulfils multiple functions,...
J. Biol. Chem. - issue: 1 - volume: 290 - pages: 478-491.


Kadaré, G.  et al. 2015

Conformational dynamics of the focal adhesion targeting domain control specific functions of focal adhesion kinase in cells

Focal adhesion (FA) kinase (FAK) regulates cell survival and motility by transducing signals from membrane receptors. The C-terminal FA targeting (FAT) domain of FAK fulfils multiple functions,...
J. Biol. Chem. - issue: 1 - volume: 290 - pages: 478-491.


Grandval, P.  et al. 2015

Genomic variations integrated database for MUTYH-associated adenomatous polyposis

WOS:000346344000004
J. Med. Genet. - issue: 1 - volume: 52 - pages: 25-27.


Castinetti, F.  et al. 2015

Combined pituitary hormone deficiency: current and future status

Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a...
J. Endocrinol. Invest. - issue: 1 - volume: 38 - pages: 1-12.


Grandval, P.  et al. 2015

Genomic variations integrated database for MUTYH-associated adenomatous polyposis

J. Med. Genet. - issue: 1 - volume: 52 - pages: 25-27.


Ruparelia, AA.  et al. 2014

The quail anatomy portal

The Japanese quail is a widely used model organism for the study of embryonic development; however, anatomical resources are lacking. The Quail Anatomy Portal (QAP) provides 22 detailed...
Database (Oxford) - issue: 0 - volume: 2014 - pages: bau028.


Hamdi, H.  et al. 2014

Long-Term Functional Benefits of Epicardial Patches as Cell Carriers

Both enzymatic dissociation of cells prior to needle-based injections and poor vascularization of myocardial infarct areas are two important contributors to cell death and impede the efficacy of...
Cell Transplant. - issue: 1 - volume: 23 - pages: 87-96.


Tordjman, S.  et al. 2014

Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms

Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model. However, despite advances in epidemiological, molecular and clinical genetics, the...
Front Psychiatry - issue: - volume: 5 - pages: 53.


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.