Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novoTBX5mutation

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

(2012) Chirag Patel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005

(2011) Robert J. Hartman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

(2011) Javier T. Granados-Riveron et al.   Congenital Heart Disease

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

(2010) C. J. J. Boogerd et al.   CARDIOVASCULAR RESEARCH

A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family

(2010) D. H. Boehme et al.   CLINICAL GENETICS

Nonsense-Mediated mRNA Decay Effectors Are Essential for Zebrafish Embryonic Development and Survival

(2009) N. Wittkopp et al.   MOLECULAR AND CELLULAR BIOLOGY