Associated Papers
Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Bolunduț AC et al.
Children (basel, Switzerland), 2023
Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.
Li X et al.
Heliyon, 2022
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
Patterson J et al.
American Journal of Medical Genetics. Part A, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.
Miyao N et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C et al.
European Journal of Human Genetics : Ejhg, 2019
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
Wang C et al.
Journal of the American Heart Association, 2017
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A et al.
The Journal of Biological Chemistry, 2015
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.
Baban A et al.
American Journal of Medical Genetics. Part A, 2014
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.
Baban A et al.
American Journal of Medical Genetics. Part A, 2014
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
Porto MP et al.
Genetics and Molecular Biology, 2010
Physical interaction between TBX5 and MEF2C is required for early heart development.
Ghosh TK et al.
Molecular and Cellular Biology, 2009
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV et al.
Circulation Research, 2008
Novel TBX5 mutations in patients with Holt-Oram syndrome.
Debeer P et al.
Clinical Orthopaedics and Related Research, 2007
Mutation in myosin heavy chain 6 causes atrial septal defect.
Ching YH et al.
Nature Genetics, 2005
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heinritz W et al.
Heart (british Cardiac Society), 2005
Identification of the TBX5 transactivating domain and the nuclear localization signal.
Zaragoza MV et al.
Gene, 2004
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM et al.
American Journal of Human Genetics, 2003
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Basson CT et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999