Iris L Gonzalez

Summary

Country: USA

Publications

  1. ncbi Barth syndrome: TAZ gene mutations, mRNAs, and evolution
    Iris L Gonzalez
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 134:409-14. 2005
  2. ncbi Paternal bias in parental origin of HRAS mutations in Costello syndrome
    Katia Sol-Church
    Department of Biomedical Research, Nemours Children s Clinic, Wilmington, Delaware, USA
    Hum Mutat 27:736-41. 2006
  3. ncbi Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation
    Susan M Kirwin
    Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Fertil Steril 87:976.e5-7. 2007
  4. ncbi HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 140:1-7. 2006
  5. ncbi Cardiac and clinical phenotype in Barth syndrome
    Carolyn T Spencer
    Congenital Heart Center, University of Florida College of Medicine, PO Box 100296, Gainesville, FL 32610 0296, USA
    Pediatrics 118:e337-46. 2006

Detail Information

Publications5

  1. ncbi Barth syndrome: TAZ gene mutations, mRNAs, and evolution
    Iris L Gonzalez
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 134:409-14. 2005
    ....
  2. ncbi Paternal bias in parental origin of HRAS mutations in Costello syndrome
    Katia Sol-Church
    Department of Biomedical Research, Nemours Children s Clinic, Wilmington, Delaware, USA
    Hum Mutat 27:736-41. 2006
    ..0018), nor with exclusive paternal origin...
  3. ncbi Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation
    Susan M Kirwin
    Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Fertil Steril 87:976.e5-7. 2007
    ..To report recurrent transmissions of Barth syndrome through a single oocyte donor carrying a de novo TAZ mutation...
  4. ncbi HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 140:1-7. 2006
    ..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete...
  5. ncbi Cardiac and clinical phenotype in Barth syndrome
    Carolyn T Spencer
    Congenital Heart Center, University of Florida College of Medicine, PO Box 100296, Gainesville, FL 32610 0296, USA
    Pediatrics 118:e337-46. 2006
    ..We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder...