PUBLICATIONS of MMG

Veuillez utiliser l'outil ci-dessous pour consulter nos publications par mots clés et/ou par équipe et/ou par année.

Suivez les liens pour consulter les publications sur le site de PubMed.



Rechercher une publication





Résultats : 4196  publications trouvées.

de Pontual, L.  et al. 2009

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.

Haddad, M.  et al. 2009

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

Moderate mental retardation (MR) could affect up to 3% of the general population. A proportion of these cases has a genetic origin. Genes responsible for mental retardation can be identified taking...
Eur J Med Genet - issue: 4 - volume: 52 - pages: 211-217.

Haddad, M.  et al. 2009

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Moderate mental retardation (MR) could affect up to 3% of the general population. A proportion of these cases has a genetic origin. Genes responsible for mental retardation can be identified taking...
Eur J Med Genet - issue: 4 - volume: 52 - pages: 211-217.

Serradj, N.  et al. 2009

The adaptation of limb kinematics to increasing walking speeds in freely moving mice 129/Sv and C57BL/6

The kinematics of locomotion was analyzed in two strains of great importance for the creation of mutated mice (C56BL/6 and 129/Sv). Different behavioral situations were used to trigger sequences of...
Behav. Brain Res. - issue: 1 - volume: 201 - pages: 59-65.

Rochais, F.  et al. 2009

Hes1 is expressed in the second heart field and is required for outflow tract development

BACKGROUND: Rapid growth of the embryonic heart occurs by addition of progenitor cells of the second heart field to the poles of the elongating heart tube. Failure or perturbation of this process...
PLoS One - issue: 7 - volume: 4 - pages: e6267.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Horard, B.  et al. 2009

Global analysis of DNA methylation and transcription of human repetitive sequences

Half of the human genome consists of repetitive DNA sequences. Recent studies in various organisms highlight the role of chromatin regulation of repetitive DNA in gene regulation as well as in...
Epigenetics - issue: 5 - volume: 4 - pages: 339-350.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Angelino, P.  et al. 2009

Role of plasma elongation on turbulent transport in magnetically confined plasmas.

The theoretical study of plasma turbulence is of central importance to fusion research. Experimental evidence indicates that the confinement time results mainly from the turbulent transport of...
Phys Rev Lett - issue: 19 - volume: 102 - pages: 195002.

Chassaing, N.  et al. 2009

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

Chassaing, N.  et al. 2009

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

Rochais, F.  et al. 2009

Signaling pathways controlling second heart field development

Insight into the mechanisms underlying congenital heart defects and the use of stem cells for cardiac repair are major research goals in cardiovascular biology. In the early embryo, progenitor cells...
Circ Res - issue: 8 - volume: 104 - pages: 933-942.

de Pontual, L.  et al. 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

de Pontual, L.  et al. 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

Cardoso, C.  et al. 2009

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have...
Neurology - issue: 9 - volume: 72 - pages: 784-792.

Cardoso, C.  et al. 2009

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients...
Neurology - issue: 9 - volume: 72 - pages: 784-792.

Benko, S.  et al. 2009

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Benko, S.  et al. 2009

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Laure, L.  et al. 2009

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling

In an attempt to identify potential therapeutic targets for the correction of muscle wasting, the gene expression of several pivotal proteins involved in protein metabolism was investigated in...
FEBS J. - issue: 3 - volume: 276 - pages: 669-684.

Bruyneel, A.  et al. 2009

Dynamical asymmetries in idiopathic scoliosis during forward and lateral initiation step

Adolescent idiopathic scoliosis (AIS) is characterized by morphological trunk modifications acting on body mass distribution. Some specific biomechanical strategies during postural regulation have...
Eur Spine J - issue: 2 - volume: 18 - pages: 188-195.