J E McDonald

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. pmc 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
    Kristy Damjanovich
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Orphanet J Rare Dis 6:85. 2011
  2. ncbi Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred
    J E McDonald
    Department of Radiology, University of Utah, Salt Lake City, USA
    Am J Med Genet 93:320-7. 2000
  3. doi Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis
    J McDonald
    Department of Radiology, HHT Center Department of Pathology, University of Utah, Salt Lake City, UT 84132, USA
    Clin Genet 79:335-44. 2011
  4. doi Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis
    Jamie McDonald
    HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132 2140, USA
    Genet Med 13:607-16. 2011

Collaborators

  • Pinar Bayrak-Toydemir
  • Kristy Damjanovich
  • Carmen Langa
  • Carmelo Bernabeu
  • Whitney Wooderchak-Donahue
  • Francisco J Blanco
  • Luisa M Botella
  • David A Stevenson

Detail Information

Publications4

  1. pmc 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
    Kristy Damjanovich
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Orphanet J Rare Dis 6:85. 2011
    ..Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG...
  2. ncbi Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred
    J E McDonald
    Department of Radiology, University of Utah, Salt Lake City, USA
    Am J Med Genet 93:320-7. 2000
    ..Intrafamilial variation in expression of HHT is clearly significant, emphasizing the difficulty in establishing the diagnosis in individuals and in sub-typing families when DNA testing is not available...
  3. doi Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis
    J McDonald
    Department of Radiology, HHT Center Department of Pathology, University of Utah, Salt Lake City, UT 84132, USA
    Clin Genet 79:335-44. 2011
    ..We report a case in which a deletion would probably have been missed if large deletion/duplication analysis was performed only if a suspected pathogenic mutation was not first identified by sequencing...
  4. doi Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis
    Jamie McDonald
    HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132 2140, USA
    Genet Med 13:607-16. 2011
    ....