Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
about
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.Characterisation of the human GFRalpha-3 locus and investigation of the gene in Hirschsprung diseaseNovel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.Mutations in SCG10 are not involved in Hirschsprung disease.Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease.Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.Developmental disorders of the enteric nervous system.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.1998 ASHG presidential address. Making genomic medicine a realityHirschsprung disease, associated syndromes, and genetics: a review.Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyAnalysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.Association study of PHOX2B as a candidate gene for Hirschsprung's disease.The developmental etiology and pathogenesis of Hirschsprung disease.Building a brain in the gut: development of the enteric nervous system.Genetic interactions and modifier genes in Hirschsprung's disease.A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
P2860
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P2860
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@ast
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@en
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@nl
type
label
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@ast
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@en
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@nl
prefLabel
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@ast
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@en
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@nl
P2093
P1476
Mutation of the RET ligand, ne ...... itance in Hirschsprung disease
@en
P2093
R Touraine
P304
P407
P577
1998-09-01T00:00:00Z