RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
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Molecular mechanisms of RET-induced Hirschsprung pathogenesisGenome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's diseaseRET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysisA 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.Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Hirschsprung disease, associated syndromes, and genetics: a review.RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysisSpecific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.Multiple endocrine neoplasias type 2B and RET proto-oncogene.Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with C-cell hyperplasia in peritumoural tissue.Pathways systematically associated to Hirschsprung's disease.Hirschsprung's disease and the brain.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Genetic modifiers and oligogenic inheritance.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.Mutation of RET gene in Chinese patients with Hirschsprung's disease.Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.Association of polymorphisms of the estrogen receptor gene with anxiety-related traits in children and adolescents: a longitudinal study.Possible Impact of RET Polymorphism and Its Haplotypic Association Modulates the Susceptibility to Thyroid Cancer.Mapping of a Hirschsprung's disease locus in 3p21A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypesTheRETC620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypesGermline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population
P2860
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P2860
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
description
2000 nî lūn-bûn
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2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@ast
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@en
type
label
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@ast
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@en
prefLabel
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@ast
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@en
P2093
P2860
P356
P1476
RET genotypes comprising speci ...... isolated Hirschsprung disease.
@en
P2093
A Hernández
F A Wright
G Antiñolo
M López-Alonso
P2860
P304
P356
10.1136/JMG.37.8.572
P407
P577
2000-08-01T00:00:00Z