Associated Papers
Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
Zodanu GKE et al.
Frontiers in Genetics, 2021
A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
Hong N et al.
Journal of Translational Medicine, 2018
Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia.
Ping LY et al.
Genes, 2016
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo T et al.
Human Mutation, 2011
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.
Griffin HR et al.
Heart (british Cardiac Society), 2010
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