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

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Birth defects research - 20 Jan 2017

Dimopoulos Aggeliki, Sicko Robert J, Kay Denise M, Rigler Shannon L, Druschel Charlotte M, Caggana Michele, Browne Marilyn L, Fan Ruzong, Romitti Paul A, Brody Lawrence C, Mills James L

Abstract excerpt

BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using...

Read the complete abstract on PubMed

Topics

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

Share to Comparative Genomic Hybridization
Share to Databases, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Heart Defects, Congenital

Share to Heart Ventricles

Share to Integrin beta Chains

Share to New York

Share to Williams Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 28009100
DOI: 10.1002/bdra.23586
PMCID: PMC5388571

Genes

ITGB8
LBH
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.PMID 28009100Read ↗

Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart DefectsSemantic proximity Read ↗

Contribution of rare copy number variants to isolated human malformations.Semantic proximity Read ↗

Copy number variants in Ebstein anomaly.Semantic proximity Read ↗

Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome.Semantic proximity Read ↗

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia.Semantic proximity Read ↗

Rare copy number variants identified in prune belly syndrome.Semantic proximity Read ↗

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart DiseaseSemantic proximity Read ↗

6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.Semantic proximity Read ↗

Copy-number variation in congenital heart disease.Semantic proximity Read ↗

Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal DefectSemantic proximity Read ↗

Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.Semantic proximity Read ↗

Prenatal genetic diagnosis of Williams-Beuren syndrome with atypical and complex phenotypes using SNP array and whole exome sequencingSemantic proximity Read ↗

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