RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

doi:10.1371/journal.pone.0028986

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

Community

Back to search

Article

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

PloS one - 1 Jan 2011

So Man-Ting, Leon Thomas Yuk-Yu, Cheng Guo, Tang Clara Sze-Man, Miao Xiao-Ping, Cornes Belinda K, Diem Ngoc Ngo, Cui Long, Ngan Elly Sau-Wai, Lui Vincent Chai-Hang, Wu Xuan-Zhao, Wang Bin, Wang Hualong, Yuan Zheng-Wei, Huang Liu-Ming, Li Long, Xia Huimin, Zhu Deli, Liu Juncheng, Nguyen Thanh Liem, Chan Ivy Hau-Yee, Chung Patrick Ho-Yu, Liu Xue-Lai, Zhang Ruizhong, Wong Kenneth Kak-Yuen, Sham Pak-Chung, Cherny Stacey S, Tam Paul Kwong-Hang, Garcia-Barcelo Maria-Mercè

Abstract excerpt

Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic...

Read the complete abstract on PubMed

Topics

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

Share to Asian People

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

Share to China

Share to Evaluation Studies as Topic

Share to Genetic Predisposition to Disease

Share to Haplotypes

Share to Hirschsprung Disease

Share to Open Reading Frames

Share to Proto-Oncogene Proteins c-ret

Source

Open in PubMed Open full text

Identifiers

PMID: 22174939
DOI: 10.1371/journal.pone.0028986
PMCID: PMC3235168

Genes

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

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.PMID 22174939Read ↗

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.Semantic proximity Read ↗

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.Semantic proximity Read ↗

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.Semantic proximity Read ↗

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

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

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

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

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

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.Semantic proximity Read ↗

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.Semantic proximity Read ↗

Analysis of the RET gene in subjects with sporadic Hirschsprung's disease.Semantic proximity Read ↗

RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.Semantic proximity Read ↗

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