PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Escot, S.  et al. 2016

Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations

DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development...
Development - issue: 4 - volume: 143 - pages: 582-588.

Escot, S.  et al. 2016

Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations

DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development...
Development - issue: 4 - volume: 143 - pages: 582-588.

Escot, S.  et al. 2016

Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations

DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development...
Development - issue: 4 - volume: 143 - pages: 582-588.

Escot, S.  et al. 2016

Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations

DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development...
Development - issue: 4 - volume: 143 - pages: 582-588.

Blondel, S.  et al. 2016

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by a dramatic appearance of premature aging. HGPS is due to a single-base substitution in exon 11 of the LMNA gene...
Cell Death Dis. - issue: - volume: 7 - pages: e2105.

Grandval, P.  et al. 2016

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

WOS:000368806900019
Clin. Genet. - issue: 2 - volume: 89 - pages: 267-268.

Templin, L.  et al. 2016

Prenatal findings in cardio-facio-cutaneous syndrome

Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. Prenatal features...
Am. J. Med. Genet. A - issue: 2 - volume: 170A - pages: 441-445.

Grandval, P.  et al. 2016

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Clin. Genet. - issue: 2 - volume: 89 - pages: 267-268.

Blondel, S.  et al. 2016

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by a dramatic appearance of premature aging. HGPS is due to a single-base substitution in exon 11 of the LMNA gene...
Cell Death Dis. - issue: - volume: 7 - pages: e2105.

Templin, L.  et al. 2016

Prenatal findings in cardio-facio-cutaneous syndrome

Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. Prenatal features...
Am. J. Med. Genet. A - issue: 2 - volume: 170A - pages: 441-445.

Moore-Morris, T.  et al. 2016

Origins of cardiac fibroblasts

Cardiac fibroblasts produce the extracellular matrix (ECM) scaffold within which the various cellular components of the heart are organized. As well as providing structural support, it is becoming...
J Mol Cell Cardiol - issue: - volume: 91 - pages: 1-5.

Calderon, D.  et al. 2016

Control of Immune Response to Allogeneic Embryonic Stem Cells by CD3 Antibody-Mediated Operational Tolerance Induction

Implantation of embryonic stem cells (ESCs) and their differentiated derivatives into allogeneic hosts triggers an immune response that represents a hurdle to clinical application. We established in...
Am J Transplant - issue: 2 - volume: 16 - pages: 454-467.

Guerin, C.  et al. 2016

Bilateral adrenalectomy in the 21st century: when to use it for hypercortisolism?

Therapeutic options available for the treatment of Cushing's syndrome (CS) have expanded over the last 5 years. For instance, the efficient management of severe hypercortisolism using a combination of...
Endocr. Relat. Cancer - issue: 2 - volume: 23 - pages: R131-142.

Grandval, P.  et al. 2016

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Clin. Genet. - issue: 2 - volume: 89 - pages: 267-268.

Roussel-Gervais, A.  et al. 2016

The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease

CONTEXT: Cushing disease (CD) is due to pituitary corticotrope adenomas that produce unrestrained ACTH secretion and have lost the negative feedback exerted by glucocorticoids (GCs). GCs also restrain...
J. Clin. Endocrinol. Metab. - issue: 2 - volume: 101 - pages: 513-522.

Yamauchi, Y.  et al. 2016

Two genes substitute for the mouse Y chromosome for spermatogenesis and reproduction

The mammalian Y chromosome is considered a symbol of maleness, as it encodes a gene driving male sex determination, Sry, as well as a battery of other genes important for male reproduction. We...
Science - issue: 6272 - volume: 351 - pages: 514-516.

Yamauchi, Y.  et al. 2016

Two genes substitute for the mouse Y chromosome for spermatogenesis and reproduction

The mammalian Y chromosome is considered a symbol of maleness, as it encodes a gene driving male sex determination, Sry, as well as a battery of other genes important for male reproduction. We...
Science - issue: 6272 - volume: 351 - pages: 514-516.

Thoret, E.  et al. 2016

When eyes drive hand: Influence of non-biological motion on visuo-motor coupling

Many studies stressed that the human movement execution but also the perception of motion are constrained by specific kinematics. For instance, it has been shown that the visuo-manual tracking of a...
Neurosci. Lett. - issue: - volume: 612 - pages: 225-230.

Thoret, E.  et al. 2016

When eyes drive hand: Influence of non-biological motion on visuo-motor coupling

Many studies stressed that the human movement execution but also the perception of motion are constrained by specific kinematics. For instance, it has been shown that the visuo-manual tracking of a...
Neurosci. Lett. - issue: - volume: 612 - pages: 225-230.

Nelson, CE.  et al. 2016

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a devastating disease affecting about 1 out of 5000 male births and caused by mutations in the dystrophin gene. Genome editing has the potential to restore...
Science - issue: 6271 - volume: 351 - pages: 403-407.