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Article

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

Lancet (London, England) - 6 Apr 2002

Fitze Guido, Cramer Jakob, Ziegler Andreas, Schierz Mandy, Schreiber Matthias, Kuhlisch Eberhard, Roesner Dietmar, Schackert Hans K

Abstract excerpt

BACKGROUND: Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. Results of genetic-linkage analysis of patients with familial disease with both long-segment and short-segment phenotypes have shown close linkage with the RET locus. We ai...

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Source

Identifiers

PMID: 11955539
DOI: 10.1016/S0140-6736(02)08218-1

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11955539-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

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Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.PMID 11955539Read ↗

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.Semantic proximity Read ↗

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)Semantic proximity Read ↗

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.Semantic proximity Read ↗

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.Semantic proximity Read ↗

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.Semantic proximity Read ↗

RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.Semantic proximity Read ↗

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Semantic proximity Read ↗

[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder].Semantic proximity Read ↗

A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children.Semantic proximity Read ↗

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.Semantic proximity Read ↗

Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.Semantic proximity Read ↗

ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS.Semantic proximity Read ↗

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