Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
about
Enteric nervous system development: migration, differentiation, and diseaseThe nonmotile ciliopathies.Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndromeNeural crest requires Impdh2 for development of the enteric nervous system, great vessels, and craniofacial skeletonFunctional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liabilityCopy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseDefining the transcriptomic landscape of the developing enteric nervous system and its cellular environmentComplex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).Contributions of PHOX2B in the pathogenesis of Hirschsprung diseaseChromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsGenotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patientsDeletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis.Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseInteraction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Disruption of long-distance highly conserved noncoding elements in neurocristopathies.PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Genetic interactions and modifier genes in Hirschsprung's disease.Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan.Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.The Role of Genetic Interactions in Neurodevelopmental DisordersAn Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease
P2860
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P2860
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@ast
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@en
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@nl
type
label
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@ast
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@en
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@nl
prefLabel
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@ast
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@en
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@nl
P2093
P50
P356
P1433
P1476
Epistatic interactions with a ...... yndromic Hirschsprung disease.
@en
P2093
F Dastot-Le Moal
J Feingold
J-L Blouin
L de Pontual
M Clement-Ziza
M Goossens
P L Beales
P304
P356
10.1002/HUMU.20517
P577
2007-08-01T00:00:00Z