Genome-wide copy number variation study in anorectal malformations.

doi:10.1093/hmg/dds451

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

Genome-wide copy number variation study in anorectal malformations.

Human molecular genetics - 1 Feb 2013

Wong Emily H M, Cui Long, Ng Chun-Laam, Tang Clara S M, Liu Xue-Lai, So Man-Ting, Yip Benjamin Hon-Kei, Cheng Guo, Zhang Ruizhong, Tang Wai-Kiu, Yang Wanling, Lau Yu-Lung, Baum Larry, Kwan Patrick, Sun Liang-Dan, Zuo Xian-Bo, Ren Yun-Qing, Yin Xian-Yong, Miao Xiao-Ping, Liu Jianjun, Lui Vincent Chi-Hang, Ngan Elly Sau-Wai, Yuan Zhen-Wei, Zhang Shi-Wei, Xia Jinglong, Wang Hualong, Sun Xiao-bing, Wang Ruoyi, Chang Tao, Chan Ivy Hau-Yee, Chung Patrick Ho-Yu, Zhang Xue-Jun, Wong Kenneth Kak-Yuen, Cherny Stacey S, Sham Pak-Chung, Tam Paul Kwong-Hang, Garcia-Barcelo Maria-Mercè

Abstract excerpt

Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we...

Read the complete abstract on PubMed

Topics

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

Share to Anus, Imperforate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Aberrations

Share to DNA Copy Number Variations

Share to Gene Dosage

Share to Gene Duplication

Share to Intercellular Signaling Peptides and Proteins

Share to Mice, Inbred ICR

Share to Wnt Signaling Pathway

Source

Open in PubMed

Identifiers

PMID: 23108157
DOI: 10.1093/hmg/dds451

Genes

DKK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide copy number variation study in anorectal malformations.PMID 23108157Read ↗

A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Semantic proximity Read ↗

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Semantic proximity Read ↗

The Role of De Novo Variants in Formation of Human Anorectal Malformations.Semantic proximity Read ↗

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.Semantic proximity Read ↗

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populationsSemantic proximity Read ↗

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.Semantic proximity Read ↗

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual DevelopmentSemantic proximity Read ↗

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.Semantic proximity Read ↗

Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.Semantic proximity Read ↗

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationSemantic proximity Read ↗

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.Semantic proximity Read ↗

Size matters: large copy number losses reveal novel Hirschsprung disease genesSemantic proximity Read ↗

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