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 analysis of chromosome 22q11.2 markers in congenital heart disease.

Journal of clinical laboratory analysis - 1 Jan 2003

Shi Yi-Ru, Hsieh Kai-Sheng, Wu Jer-Yuarn, Lee Cheng-Chun, Tsai Chang-Hai, Yu Ming-Tseng, Chang Jeng-Sheng, Tsai Fuu-Jen

Abstract excerpt

Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genetic Markers

Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

Share to Loss of Heterozygosity

Share to Minisatellite Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 12526020
DOI: 10.1002/jcla.10062
PMCID: PMC6807742

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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 analysis of chromosome 22q11.2 markers in congenital heart disease.PMID 12526020Read ↗

New tetranucleotide STRP markers for detecting the 22q11.2 deletion.Semantic proximity Read ↗

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects.Semantic proximity Read ↗

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.Semantic proximity Read ↗

Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.Semantic proximity Read ↗

PCR screening for 22q11.2 microdeletion: development of a new cost-effective diagnostic tool.Semantic proximity Read ↗

Association of 22q11 deletion with isolated congenital heart disease in three Chinese ethnic groups.Semantic proximity Read ↗

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.Semantic proximity Read ↗

Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.Semantic proximity Read ↗

Identification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosity.Semantic proximity Read ↗

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.Semantic proximity Read ↗

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.Semantic proximity Read ↗

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?Semantic proximity Read ↗

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