Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human mutation - 1 Aug 2003

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

Abstract excerpt

Germline mutations of the RET proto-oncogene have been found in familial and sporadic forms of Hirschsprung disease (HSCR), but also in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes, which comprise the medullary thyroid carcinoma (MTC) as an obligatory feature. Besides mutations various polymorphisms of the RET proto-oncogene are associated with the HSCR. In this study,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hirschsprung Disease
Share to Introns

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Share to Polymorphism, Genetic

Share to Proto-Oncogene Mas

Share to Proto-Oncogene Proteins

Share to Proto-Oncogene Proteins c-ret

Share to Receptor Protein-Tyrosine Kinases

Source

Identifiers

PMID: 12872262
DOI: 10.1002/humu.9161

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.PMID 12872262Read ↗

Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China.Semantic proximity Read ↗

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

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

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

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

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's 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 ↗

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.Semantic proximity Read ↗

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

RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.