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

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.

PloS one - 1 Jan 2012

Luzón-Toro Berta, Torroglosa Ana, Núñez-Torres Rocío, Enguix-Riego María Valle, Fernández Raquel María, de Agustín Juan Carlos, Antiñolo Guillermo, Borrego Salud

Abstract excerpt

Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-o...

Read the complete abstract on PubMed

Topics

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

Share to Chlorocebus aethiops
Share to COS Cells
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enteric Nervous System

Share to Haplotypes

Share to Hirschsprung Disease

Share to Neuregulin-1

Share to Proto-Oncogene Mas

Source

Open in PubMed Open full text

Identifiers

PMID: 22574178
DOI: 10.1371/journal.pone.0036524
PMCID: PMC3344894

Genes

NRG1
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22574178-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.PMID 22574178Read ↗

Mutations in the NRG1 gene are associated with Hirschsprung disease.Semantic proximity Read ↗

NRG1 variant effects in patients with Hirschsprung disease.Semantic proximity Read ↗

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.Semantic proximity Read ↗

Fine mapping of the NRG1 Hirschsprung's disease locus.Semantic proximity Read ↗

Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosisSemantic proximity Read ↗

Association of Neuregulin 1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease.Semantic proximity Read ↗

A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.Semantic proximity Read ↗

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.Semantic proximity Read ↗

Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Semantic proximity Read ↗

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical ApplicationsSemantic proximity Read ↗

Effects of NRG1 Polymorphisms on Hirschsprung's Disease Susceptibility: A Meta-analysis.Semantic proximity Read ↗

Common variants of NRG1 and ITGB4 confer risk of Hirschsprung disease in Han Chinese population.Semantic proximity Read ↗

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