Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Fetal valproate syndrome: the Irish experience

(2018) Hamizah Mohd Yunos et al.   IRISH JOURNAL OF MEDICAL SCIENCE

Looking beyond the genes: the role of non-coding variants in human disease

(2016) Malte Spielmann et al.   HUMAN MOLECULAR GENETICS

Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications

(2015) Mohammad M. Al-Qattan et al.   GENE

Holt Oram syndrome: a registry-based study in Europe

(2014) Ingeborg Barisic et al.   Orphanet Journal of Rare Diseases

Regulatory modulation of the T-box geneTbx5links development, evolution, and adaptation of the sternum

(2014) Sorrel R. B. Bickley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

(2013) F. Petit et al.   CLINICAL GENETICS

VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement

(2013) Diana Carli et al.   JOURNAL OF PEDIATRICS

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

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Multiple Roles and Interactions of Tbx4 and Tbx5 in Development of the Respiratory System

(2012) Ripla Arora et al.   PLoS Genetics

Mechanisms of T-box gene function in the developing heart

(2011) F. Greulich et al.   CARDIOVASCULAR RESEARCH

Birth Prevalence of Congenital Heart Disease Worldwide

(2011) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

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

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

Tbx4 and Tbx5 Acting in Connective Tissue Are Required for Limb Muscle and Tendon Patterning

(2010) Peleg Hasson et al.   DEVELOPMENTAL CELL

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

(2009) H. Vega et al.   JOURNAL OF MEDICAL GENETICS

Functional analysis of the novel TBX5c.1333delC mutation resulting in an extended TBX5 protein

(2008) Johann Böhm et al.   BMC Medical Genetics

Adolescent idiopathic scoliosis

(2008) Stuart L Weinstein et al.   LANCET