E Goldmuntz

Summary

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

Publications

  1. ncbi request reprint 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 request reprint 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 request reprint 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. pmc 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 request reprint 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. pmc 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. pmc 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. pmc 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
  • M V Ouspenskaia
  • A D Baxevanis
  • C L Maslen
  • A F Schier
  • C D Morris
  • P Bowers
  • J Towbin
  • S Banerjee-Basu
  • J W Belmont
  • E Roessler
  • J Mez
  • M Muenke
  • M Gewillig
  • R Vlietinck
  • D Collen
  • H Dietz
  • M L Budarf
  • S Gottlieb
  • J Collins
  • D M McDonald-McGinn
  • E H Zackai
  • A Blescia

Detail Information

Publications8

  1. ncbi request reprint 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 request reprint 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 request reprint 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. pmc 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 request reprint 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. pmc 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. pmc 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. pmc 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...