J E McDonald
Affiliation: University of Utah
- 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasiaKristy 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...
- Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindredJ 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...
- Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysisJ 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...
- Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesisJamie McDonald
HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132 2140, USA
Genet Med 13:607-16. 2011....