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

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

1 Jan 2011

Abstract excerpt

Studies addressing the role of somatic copy number variation (CNV) in the genesis of congenital heart defects (CHDs) are scarce, as cardiac tissue is difficult to obtain, especially in non-affected individuals. We explored the occurrence of copy number differences in monozygotic (MZ) twins discordant for the presence of a CHD, as an illustrative model for chromosomal mosaicism in CHDs. Array comparative genomic...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 22511896
DOI: 10.1159/000335284

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart DefectsPMID 22511896Read ↗

Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.Semantic proximity Read ↗

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.Semantic proximity Read ↗

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

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

Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotypeSemantic proximity Read ↗

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.Semantic proximity Read ↗

Copy Number Variation in Congenital Heart DefectsSemantic proximity Read ↗

Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.Semantic proximity Read ↗

Early post-zygotic mutations contribute to congenital heart diseaseSemantic proximity Read ↗

Genome and epigenome analysis of monozygotic twins discordant for congenital heart diseaseSemantic proximity Read ↗

Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.Semantic proximity Read ↗

Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart diseaseSemantic proximity Read ↗

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