Associated Papers
Familial hypertrophic cardiomyopathy associated with TBX1 variation.
Zhang J et al.
European Journal of Medical Genetics, 2025
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
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Kammoun M et al.
Prenatal Diagnosis, 2018
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.
Yoshida A et al.
Journal of Human Genetics, 2016
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.
Chen J et al.
Neural Plasticity, 2016
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
Xu YJ et al.
Bmc Medical Genetics, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
Xu YJ et al.
Bmc Medical Genetics, 2011
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
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
Scambler PJ
Pediatric Cardiology, 2010
[Frequency of 22q11 deletions in children with isolated conotruncal defects].
Shen L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2009
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Zweier C et al.
American Journal of Human Genetics, 2007
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
Stoller JZ et al.
Human Molecular Genetics, 2005
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