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

Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients.

Pediatric cardiology - 1 Dec 2018

Alharbi Khalid M, Al-Mazroea Abdelhadi H, Abdallah Atiyeh M, Almohammadi Yousef, Carlus S Justin, Basit Sulman

Abstract excerpt

Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD...

Read the complete abstract on PubMed

Topics

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

Share to Down Syndrome
Share to ENG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FLNA gene

Share to Genetic Predisposition to Disease

Share to Heart Defects, Congenital

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 30105468
DOI: 10.1007/s00246-018-1951-3

Genes

ENG
FLNA
GATA3
GUSB
KCNH2

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

Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients.PMID 30105468Read ↗

Molecular mechanisms of congenital heart disease in down syndromeSemantic proximity Read ↗

Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.Semantic proximity Read ↗

Genome-wide association studies of Down syndrome associated congenital heart defectsSemantic proximity Read ↗

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.Semantic proximity Read ↗

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.Semantic proximity Read ↗

"Down syndrome: an insight of the disease".Semantic proximity Read ↗

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.Semantic proximity Read ↗

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndromeSemantic proximity Read ↗

Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencingSemantic proximity Read ↗

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.Semantic proximity Read ↗

Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Semantic proximity Read ↗

Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network.Semantic proximity Read ↗

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