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The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28Development of the zebrafish enteric nervous system.Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in miceFluorescence Visualization of the Enteric Nervous Network in a Chemically Induced Aganglionosis Model2013 William Allan Award: My multifactorial journeyGenetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.The recurrence risk of genetic complex diseases.Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's diseaseMutations in SCG10 are not involved in Hirschsprung disease.Fine mapping of the 9q31 Hirschsprung's disease locus.Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityQTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Identifying candidate Hirschsprung disease-associated RET variantsHirschsprung disease, associated syndromes, and genetics: a review.Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.Oncological implications of RET gene mutations in Hirschsprung's disease.Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expressionRET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.Increased smooth muscle contractility of intestine in the genetic null of the endothelin ETB receptor: a rat model for long segment Hirschsprung's diseaseAssociation study of PHOX2B as a candidate gene for Hirschsprung's disease.SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung's disease.Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.Multiple endocrine neoplasias type 2B and RET proto-oncogene.Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Detection and preliminary screening of the human gene expression profile for Hirschsprung's disease.Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.The developmental etiology and pathogenesis of Hirschsprung disease.A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.MeCP2-Related Diseases and Animal Models.Immunohistochemistry-based comparative study in detection of Hirschsprung's disease in infants in a Tertiary Care CenterEffects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.
P2860
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P2860
description
1990 nî lūn-bûn
@nan
1990 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մարտին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
A genetic study of Hirschsprung disease.
@ast
A genetic study of Hirschsprung disease.
@en
A genetic study of Hirschsprung disease.
@nl
type
label
A genetic study of Hirschsprung disease.
@ast
A genetic study of Hirschsprung disease.
@en
A genetic study of Hirschsprung disease.
@nl
prefLabel
A genetic study of Hirschsprung disease.
@ast
A genetic study of Hirschsprung disease.
@en
A genetic study of Hirschsprung disease.
@nl
P2093
P2860
P1476
A genetic study of Hirschsprung disease.
@en
P2093
A Chakravarti
J A Badner
K L Garver
W K Sieber
P2860
P304
P407
P577
1990-03-01T00:00:00Z