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Article

DiGeorge syndrome: an update.

Current opinion in cardiology - 1 May 2004

Baldini Antonio

Abstract excerpt

PURPOSE OF REVIEW: This article is an update on DiGeorge syndrome research focusing on the synergy of human and model systems genetics toward the understanding of conotruncal and aortic arch defects. RECENT FINDINGS: The identification of mutations of the human T-Box1 (TBX1) gene and progress on research of Tbx1 function in mouse development demonstrate the pathogenetic role of this gene in DiGeorge syndrome and...

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Source

Identifiers

PMID: 15096950
DOI: 10.1097/00001573-200405000-00002

Genes

TBX1

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DiGeorge syndrome: an update.PMID 15096950Read ↗

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

Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in miceSemantic proximity Read ↗

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

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Semantic proximity Read ↗

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.Semantic proximity Read ↗

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

The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.Semantic proximity Read ↗

Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

Development of the human aortic arch system captured in an interactive three‐dimensional reference modelSemantic proximity Read ↗

<i>Tbx1</i>expression in pharyngeal epithelia is necessary for pharyngeal arch artery developmentSemantic proximity Read ↗

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