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

Duplication and deletion of CFC1 associated with heterotaxy syndrome.

DNA and cell biology - 1 Feb 2015

Cao Ruixue, Long Fei, Wang Liping, Xu Yuejuan, Guo Ying, Li Fen, Chen Sun, Sun Kun, Xu Rang

Abstract excerpt

Heterotaxy syndrome, which causes significant morbidity and mortality, is a class of congenital disorders, in which normal left-right asymmetry cannot be properly established. To explore the role of copy number variants (CNVs) in the occurrence of heterotaxy syndrome, we recruited 93 heterotaxy patients and studied 12 of them by the Affymetrix Genome-Wide Human SNP 6.0 Array. The results were confirmed in the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Gene Deletion

Share to Gene Duplication

Share to Genome-Wide Association Study

Share to Intercellular Signaling Peptides and Proteins

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 25423076
DOI: 10.1089/dna.2014.2616
PMCID: PMC4308825

Genes

CFC1

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

Duplication and deletion of CFC1 associated with heterotaxy syndrome.PMID 25423076Read ↗

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Semantic proximity Read ↗

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.Semantic proximity Read ↗

Genetic and Clinical Features of Heterotaxy in a Prenatal CohortSemantic proximity Read ↗

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.Semantic proximity Read ↗

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

DNAH11 variants and its association with congenital heart disease and heterotaxy syndromeSemantic proximity Read ↗

Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencingSemantic proximity Read ↗

Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.Semantic proximity Read ↗

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1Semantic proximity Read ↗

Prenatal Diagnosis of Heterotaxy Syndrome: A Case Report and Literature ReviewSemantic proximity Read ↗

Total Anomalous Pulmonary Venous Connections, Human Genetics.Semantic proximity Read ↗

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.Semantic proximity Read ↗

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