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

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

Genetic testing - 1 Jan 2006

Zhang Litu, Tümer Zeynep, Jacobsen Joes Ramsøe, Andersen Paal Skytt, Tommerup Niels, Larsen Lars Allan

Abstract excerpt

Congenital heart disease (CHD) affects nearly 1% of the population, but only few genes involved in human CHD are presently known. Germ-line mutations in the zinc finger transcription factor GATA4 have been associated with familial cases of atrial and ventricular septal defects and pulmonary stenosis. We have screened 99 unrelated Danish patients with different CHD phenotypes to evaluate the prevalence of GATA4...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Denmark

Share to DNA Mutational Analysis

Share to GATA4 Transcription Factor

Share to Genetic Testing

Share to Germ-Line Mutation

Share to Heart Defects, Congenital

Source

Identifiers

PMID: 17253934
DOI: 10.1089/gte.2006.10.277

Genes

GATA4

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

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.PMID 17253934Read ↗

GATA4 mutations in 357 unrelated patients with congenital heart malformation.Semantic proximity Read ↗

Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.Semantic proximity Read ↗

Identification of functional mutations in GATA4 in patients with congenital heart disease.Semantic proximity Read ↗

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart DiseaseSemantic proximity Read ↗

Functional mutant GATA4 identification and potential application in preimplantation diagnosis of congenital heart diseases.Semantic proximity Read ↗

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.Semantic proximity Read ↗

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.Semantic proximity Read ↗

A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease.Semantic proximity Read ↗

GATA4 mutations in 486 Chinese patients with congenital heart disease.Semantic proximity Read ↗

SMAD4 loss-of-function mutation predisposes to congenital heart disease.Semantic proximity Read ↗

Detection and putative effect of GATA4 gene variants in patients with congenital cardiac septal defects.Semantic proximity Read ↗

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.Semantic proximity Read ↗

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