Affiliation: The Children's Hospital of Philadelphia
- NKX2.5 mutations in patients with tetralogy of fallotE Goldmuntz
Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA
Circulation 104:2565-8. 2001..5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the genotype-phenotype correlation of NKX2.5 mutations, we genotyped 114 TOF patients...
- Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical regionE Goldmuntz
Division of Cardiology, Children s Hospital of Philadelphia, Pennsylvania 19104, USA
Genomics 33:271-6. 1996..Whether the citrate transport protein can be implicated in the biological etiology of DGS or other 22q11 microdeletion syndromes remains to be defined...
- Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical regionE Goldmuntz
The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, The Department of Pediatrics, 19104, USA
Gene 198:379-86. 1997..Based on its position in the MDGCR and possible function, the gene reported here is a candidate for the features seen in the 22q11 deletion syndrome...
- Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defectsW Gong
J Med Genet 38:E45. 2001
- Chromosome 22q11 deletion in patients with truncus arteriosusD B McElhinney
Division of Cardiology, The Children's Hospital of Philadelphia, 3516 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA
Pediatr Cardiol 24:569-73. 2003..Clinically important anatomic variables, such as abnormalities of the truncal valve and interrupted aortic arch, were not associated with a chromosome 22q11 deletion in this series...
- Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association studyD Lambrechts
J Med Genet 42:519-22. 2005
- Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansJ D Karkera
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 81:987-94. 2007..These findings implicate perturbations of the TGF- beta signaling pathway in the causation of a major subclass of human CHDs...
- GATA4 sequence variants in patients with congenital heart diseaseA Tomita-Mitchell
Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
J Med Genet 44:779-83. 2007..Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have GATA4 mutations...