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

Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs).

BMC pediatrics - 9 Feb 2023

Sarwar Sumbal, Shabana, Sajjad Khadija, Hasnain Shahida

Abstract excerpt

BACKGROUND: With prevalence up to 4%, Ventricular Septal Defect (VSD) is one of the leading causes of neonatal deaths. VSD is a common complex genetic disorder that has been associated with many genetic determinants. Variants from genes for the transcription factors including T-Box TBX5 and NFATc1 (nuclear factor of activated T cells, cytoplasmic 1), Vascular endothelial growth factor (VEGF), ISLET1 (encoded by...

Read the complete abstract on PubMed

Topics

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

Share to Case-Control Studies
Share to Genotype
Share to Heart Septal Defects, Ventricular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Pakistan

Share to Pilot Projects

Share to Transcription Factors

Share to Vascular Endothelial Growth Factor A

Source

Open in PubMed Open full text

Identifiers

PMID: 36759823
DOI: 10.1186/s12887-023-03851-3
PMCID: PMC9909889

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

Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs).PMID 36759823Read ↗

Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population.Semantic proximity Read ↗

First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD).Semantic proximity Read ↗

Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.Semantic proximity Read ↗

Human Genetics of Ventricular Septal Defect.Semantic proximity Read ↗

Genetic Risk Score Constructed from Polymorphisms in the VEGFA, TBX5, and SMAD7 Genes Provides Novel Insights into the Molecular Mechanisms of the Tetralogy of Fallot and Ventricular Septal Defect (Case-Control Study from the Pakistani Population).Semantic proximity Read ↗

Association of NFATc1 gene polymorphism with ventricular septal defect in the Chinese Han population.Semantic proximity Read ↗

FLT4 gene polymorphisms influence isolated ventricular septal defects predisposition in a Southwest China populationSemantic proximity Read ↗

Novel GATA4 mutations in patients with congenital ventricular septal defects.Semantic proximity Read ↗

FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population.Semantic proximity Read ↗

Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population.Semantic proximity Read ↗

Genetic etiology analysis of 244 fetal ventricular septal defect in the prenatal settingSemantic proximity Read ↗

Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular Septal Defect (VSD)Semantic proximity Read ↗

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