PUBLICATIONS MMG

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Résultats : 2250  publications trouvées.

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.


Laforest, B.  et al. 2014

Genetic lineage tracing analysis of anterior Hox expressing cells

Cell lineage studies have been widely used in developmental biology to establish which cells, and how many cells, in the early embryo will give rise to a specific structure and its derivatives....
Methods Mol. Biol. - issue: - volume: 1196 - pages: 37-48.


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.


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.


Tawil, R.  et al. 2014

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been controversial over the last decades, progress in recent years has led to a model that incorporates these decades of...
Skelet Muscle - issue: - volume: 4 - pages: 12.


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.


Laforest, B.  et al. 2014

Genetic lineage tracing analysis of anterior Hox expressing cells

Cell lineage studies have been widely used in developmental biology to establish which cells, and how many cells, in the early embryo will give rise to a specific structure and its derivatives....
Methods Mol. Biol. - issue: - volume: 1196 - pages: 37-48.


Croisé, P.  et al. 2014

Rho GTPases, phosphoinositides, and actin: a tripartite framework for efficient vesicular trafficking

Rho GTPases are well known regulators of the actin cytoskeleton that act by binding and activating actin nucleators. They are therefore involved in many actin-based processes, including cell...
Small GTPases - issue: - volume: 5 - pages: e29469.


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.


Laforest, B.  et al. 2014

Genetic lineage tracing analysis of anterior Hox expressing cells

Cell lineage studies have been widely used in developmental biology to establish which cells, and how many cells, in the early embryo will give rise to a specific structure and its derivatives....
Methods Mol. Biol. - issue: - volume: 1196 - pages: 37-48.


Ono, Y.  et al. 2014

The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation

CAPN3/p94/calpain-3, a calpain protease family member predominantly expressed in skeletal muscle, possesses unusually rapid and exhaustive autolytic activity. Mutations in the human CAPN3 gene...
Proc. Natl. Acad. Sci. U.S.A. - issue: 51 - volume: 111 - pages: E5527-5536.


Brue, T.  et al. 2014

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

BACKGROUND: DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with...
BMC Med. Genet. - issue: - volume: 15 - pages: 139.


Herbaux, C.  et al. 2014

Incidence of Atrx Mutations in Myelodysplastic Syndromes (MDS)

WOS:000349242701174
Blood - issue: 21 - volume: 124 - pages: .


Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.