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Article

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

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie - 1 Jun 2003

Fitze G, Cramer J, Serra A, Schreiber M, Roesner D, Schackert H K

Abstract excerpt

Hirschsprung disease (HSCR) is considered a model for a complex inheritance disorder. Several genes, including the major HSCR-susceptibility RET proto-oncogene, play an aetiological role in the development of HSCR. Genetic linkage analysis in familial HSCR with both long- and short-segment phenot...

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Identifiers

PMID: 12939698
DOI: 10.1055/s-2003-41270

Genes

RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12939698-2026-09-01.1. 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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Click a neighbor to travelStep 1 · 12 closest

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.PMID 12939698Read ↗

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

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

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.Semantic proximity Read ↗

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.Semantic proximity Read ↗

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.Semantic proximity Read ↗

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

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

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.Semantic proximity Read ↗

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

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.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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

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