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Article

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.

The Turkish journal of pediatrics - 1 Jan 2000

Cabuk Feryal, Karabulut Halil G, Tuncali Timur, Karademir Selmin, Bozdayi Mithat, Tükün Ajlan

Abstract excerpt

Fallot tetralogy (FT) is the most frequently observed conotruncal heart defect (CTHD) and accompanies 15% of the 22q11 deletion syndromes, DiGeorge/ velocardiofacial (DGS/VCFS) syndromes. TBX1 is a gene located in the 22q11 region and has a role in neural crest migration and conotruncal development. The mouse Tbx1 locus shows 98% homology with TBX1. DGS/VCFS-like aortic arch abnormalities in the mouse were...

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Source

Identifiers

PMID: 17479646

Genes

TBX1

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

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Research trail→

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TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.PMID 17479646Read ↗

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.Semantic proximity Read ↗

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.Semantic proximity Read ↗

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.Semantic proximity Read ↗

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.Semantic proximity Read ↗

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.Semantic proximity Read ↗

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.Semantic proximity Read ↗

Mutation analysis of <i>TBX1</i> in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defectsSemantic proximity Read ↗

Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Semantic proximity Read ↗

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.Semantic proximity Read ↗

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.Semantic proximity Read ↗

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