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Results: 2478  publications found.

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.

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.

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.

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.

Ottaviani, A.  et al. 2009

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this...
PLoS Genet. - issue: 2 - volume: 5 - pages: e1000394.

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.

Bajolle, F.  et al. 2009

Conotruncal defects associated with anomalous pulmonary venous connections

BACKGROUND: Conotruncal defects constitute one of the major categories of congenital heart disease. Our understanding of how these defects develop has been derived from knowledge of the role of neural...
Arch Cardiovasc Dis - issue: 2 - volume: 102 - pages: 105-110.

Cotti, J.  et al. 2009

Adaptation of reactive and voluntary saccades: different patterns of adaptation revealed in the antisaccade task

Sensorimotor adaptation restores and maintains the accuracy of goal-directed movements. It remains unclear whether these adaptive mechanisms modify actions by controlling peripheral premotor stages...
J. Physiol. (Lond.) - issue: 1 - volume: 587 - pages: 127-138.

Bajolle, F.  et al. 2009

Genetics and embryological mechanisms of congenital heart diseases

Developmental genetics of congenital heart diseases has evolved from analysis of embryo sections towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Lineage...
Arch Cardiovasc Dis - issue: 1 - volume: 102 - pages: 59-63.

Leschik, J.  et al. 2008

Cardiac commitment of primate embryonic stem cells

Primate nonhuman and human embryonic stem (ES) cells provide a powerful model of early cardiogenesis. Furthermore, engineering of cardiac progenitors or cardiomyocytes from ES cells offers a tool for...
Nature protocols - issue: 9 - volume: 3 - pages: 1381-7.

Roux, J.  et al. 2008

Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse

Mutations in the gene encoding the transcriptional methyl-CpG binding protein 2 (Mecp2) cause a wide range of neurological disorders and the better known of these diseases is Rett syndrome (RS). Mecp2...
Neurosci. Lett. - issue: 1 - volume: 447 - pages: 82-86.

Delfourne, E.  et al. 2008

Analogues of marine pyrroloiminoquinone alkaloids: synthesis and antitumor properties

Marine organisms provide a valuable source for natural products. In recent years, iminoquinone alkaloids including makaluvamines, isobatzellines, tsitsikammamines and wakayin, have emerged as an...
Anticancer Agents Med Chem - issue: 8 - volume: 8 - pages: 910-916.

Sajedi, E.  et al. 2008

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

Pereira, S.  et al. 2008

Nuclear localization of a novel human syntaxin 1B isoform

The syntaxins are proteins associated with various intracellular membrane compartments. They are major participants in a large variety of physiological processes where membrane fusion occurs,...
Gene - issue: 2 - volume: 423 - pages: 160-171.

Bruyneel, A.  et al. 2008

Lateral steps reveal adaptive biomechanical strategies in adolescent idiopathic scoliosis

INTRODUCTION: Adolescent idiopathic scoliosis (characterized by a morphological deformation of the trunk) prompts the development of new postural control strategies. This adaptation has an influence...
Ann Readapt Med Phys - issue: 8 - volume: 51 - pages: 630-635, 636-641.

Giurgea, I.  et al. 2008

TCF4 deletions in Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth,...
Hum. Mutat. - issue: 11 - volume: 29 - pages: E242-251.

Thomas, S.  et al. 2008

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.