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

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

Journal of the American College of Cardiology - 15 Feb 2005

Beauchesne Luc M, Warnes Carole A, Connolly Heidi M, Ammash Naser M, Grogan Martha, Jalal Syed M, Michels Virginia V

Abstract excerpt

OBJECTIVES: This study was designed to determine the prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies and to assess the clinician's ability to predict the presence or absence of 22q11.2 microdeletion on the basis of clinical features. BACKGROUND: It is known that 22q11.2 microdeletion is a chromosomal anomaly with cardiac and extracardiac...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 22

Share to Heart Septal Defects, Ventricular

Share to Prevalence

Share to Syndrome

Share to Tetralogy of Fallot

Source

Identifiers

PMID: 15708709
DOI: 10.1016/j.jacc.2004.10.056

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

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.PMID 15708709Read ↗

Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases.Semantic proximity Read ↗

Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsSemantic proximity Read ↗

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.Semantic proximity Read ↗

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.Semantic proximity Read ↗

[Chromosome 22q11.2 microdeletion and phenotype analysis of patients with non-syndromic tetralogy of Fallot].Semantic proximity Read ↗

Chromosome 22q11 deletions in patients with conotruncal heart defects.Semantic proximity Read ↗

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.Semantic proximity Read ↗

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).Semantic proximity Read ↗

Anatomic patterns of conotruncal defects associated with deletion 22q11.Semantic proximity Read ↗

Frequent association of 22q11.2 deletion with tetralogy of FallotSemantic proximity Read ↗

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.Semantic proximity Read ↗

Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.Semantic proximity Read ↗

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