Associated Papers
CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM.
Wang Y et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2020
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
Xu Y et al.
Scientific Reports, 2017
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.
Yoshida A et al.
Journal of Human Genetics, 2016
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
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
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
Paylor R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
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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