E Goldmuntz

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. ncbi NKX2.5 mutations in patients with tetralogy of fallot
    E Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA
    Circulation 104:2565-8. 2001
  2. ncbi Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region
    E Goldmuntz
    Division of Cardiology, Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Genomics 33:271-6. 1996
  3. ncbi Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region
    E Goldmuntz
    The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, The Department of Pediatrics, 19104, USA
    Gene 198:379-86. 1997
  4. ncbi Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
    W Gong
    J Med Genet 38:E45. 2001
  5. ncbi Chromosome 22q11 deletion in patients with truncus arteriosus
    D 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
  6. ncbi Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study
    D Lambrechts
    J Med Genet 42:519-22. 2005
  7. ncbi Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans
    J 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
  8. ncbi GATA4 sequence variants in patients with congenital heart disease
    A Tomita-Mitchell
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Med Genet 44:779-83. 2007

Collaborators

  • D W Benson
  • Vidu Garg
  • K Devriendt
  • P Carmeliet
  • Zhongbiao Wang
  • J S Lee
  • Barbara Reid
  • D A Driscoll
  • J D Karkera
  • A Tomita-Mitchell
  • D Lambrechts
  • D B McElhinney
  • B S Emanuel
  • W Gong
  • A F Schier
  • S Banerjee-Basu
  • C D Morris
  • E Roessler
  • J Mez
  • A D Baxevanis
  • J W Belmont
  • M Muenke
  • M V Ouspenskaia
  • J Towbin
  • C L Maslen
  • P Bowers
  • M Gewillig
  • R Vlietinck
  • D Collen
  • E H Zackai
  • J Collins
  • D M McDonald-McGinn
  • H Dietz
  • M L Budarf
  • S Gottlieb
  • A Blescia

Detail Information

Publications8

  1. ncbi NKX2.5 mutations in patients with tetralogy of fallot
    E 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...
  2. ncbi Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region
    E 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...
  3. ncbi Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region
    E 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...
  4. ncbi Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
    W Gong
    J Med Genet 38:E45. 2001
  5. ncbi Chromosome 22q11 deletion in patients with truncus arteriosus
    D 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...
  6. ncbi Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study
    D Lambrechts
    J Med Genet 42:519-22. 2005
  7. ncbi Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans
    J 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...
  8. ncbi GATA4 sequence variants in patients with congenital heart disease
    A 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...