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

Contribution of rare copy number variants to isolated human malformations.

PloS one - 1 Jan 2012

Serra-Juhé Clara, Rodríguez-Santiago Benjamín, Cuscó Ivon, Vendrell Teresa, Camats Núria, Torán Núria, Pérez-Jurado Luis A

Abstract excerpt

BACKGROUND: Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. METHODOLOGY/PRINCIPAL FINDINGS: We...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Abnormalities

Share to DNA Copy Number Variations

Share to Fetal Diseases

Share to Genetic Counseling

Share to Genotyping Techniques

Share to Multiplex Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 23056206
DOI: 10.1371/journal.pone.0045530
PMCID: PMC3463597

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

Contribution of rare copy number variants to isolated human malformations.PMID 23056206Read ↗

Lessons Learned from CNV Analysis of Major Birth Defects.Semantic proximity Read ↗

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

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in FranceSemantic proximity Read ↗

The importance of copy number variation in congenital heart diseaseSemantic proximity Read ↗

Genetic Aetiology Distribution of 398 Foetuses with Congenital Heart Disease in the Prenatal SettingSemantic proximity Read ↗

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.Semantic proximity Read ↗

Rare copy number variants in patients with congenital conotruncal heart defects.Semantic proximity Read ↗

Personalized Genetic Diagnosis of Congenital Heart Defects in NewbornsSemantic proximity Read ↗

Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart DefectsSemantic proximity Read ↗

Clinical features and genetic analysis of 471 cases of fetal congenital heart disease: A systematic reviewSemantic proximity Read ↗

Clinical features and genetic analysis of 471 cases of fetal congenital heart disease.Semantic proximity Read ↗

Other genomic disorders and congenital heart diseaseSemantic proximity Read ↗

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