JamieMcDonaldMD

PubMed

• Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.
  Gonzalez, C. D.,Cipriano, S. D.,Topham, C. A.,Stevenson, D. A.,Whitehead, K. J.,Vanderhooft, S.,Presson, A. P.,McDonald, J.> ;J. Am. Acad. Dermatol.. 2019 Mar 02
• Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.
  Ruiz-Llorente, L.,McDonald, J.,Wooderchak-Donahue, W.,Briggs, E.,Chesnutt, M.,Bayrak-Toydemir, P.,Bernabeu, C.> ;J. Hum. Genet.. 1900 Jan 01
• HASH(0x3a1dda8)
  Wooderchak-Donahue, W. L.,McDonald, J.,Farrell, A.,Akay, G.,Velinder, M.,Johnson, P.,VanSant-Webb, C.,Margraf, R.,Briggs, E.,Whitehead, K. J.,Thomson, J.,Lin, A. E.,Py...> ;J. Med. Genet.. 2018 Sep 24
• Clinical Presentation and Treatment Paradigms of Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia
  Philipp Taussky, Jamie McDonald, Kevin J Whitehead, Ilyas Eli, Evan J Joyce, Richard H Schmidt, Nicholas T Gamboa> ;Journal of Clinical Neuroscience. 2018 Feb 28
• 7 citations
  The effects of nasal closure on quality of life in patients with hereditary hemorrhagic telangiectasia
  Rhett S. Thomson, Nicole L. Molin, Kevin J. Whitehead, Shaelene Ashby, Leland P. Johnson, P. Daniel Ward, Bryan R. McRae, Kevin F. Wilson, Jamie McDonald> ;Laryngoscope Investigative Otolaryngology. 2018 Apr 19
• Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations.
  Eli, I.,Gamboa, N. T.,Joyce, E. J.,Park, M. S.,Taussky, P.,Schmidt, R. H.,Couldwell, W. T.,McDonald, J.,Whitehead, K. J.,Kalani, MYS.> ;J Clin Neurosci. 2018 Feb 06
• Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.
  Jiang, X.,Wooderchak-Donahue, W. L.,McDonald, J.,Ghatpande, P.,Baalbaki, M.,Sandoval, M.,Hart, D.,Clay, H.,Coughlin, S.,Lagna, G.,Bayrak-Toydemir, P.,Hata, A.> ;Sci Signal. 2018 Jan 18
• Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia.
  Gonzalez, C. D.,Mcdonald, J.,Stevenson, D. A.,Whitehead, K. J.,Petersen, M. G.,Presson, A. P.,Ding, Q.,Wilson, K. F.> ;Laryngoscope. 1900 Jan 01
• Pathogenic variants that alter protein code often disrupt splicing.
  Soemedi, R.,Cygan, K. J.,Rhine, C. L.,Wang, J.,Bulacan, C.,Yang, J.,Bayrak-Toydemir, P.,McDonald, J.,Fairbrother, W. G.> ;Nat. Genet.. 2017 Apr 19
• An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2.
  Hunter, B. N.,Timmins, B. H.,McDonald, J.,Whitehead, K. J.,Ward, P. D.,Wilson, K. F.,Hunter, B. N.,Timmins, B. H.,McDonald, J.,Whitehead, K. J.,Ward, P. D.,Wilson, K. F.> ;Laryngoscope. 2015 Sep 16
• Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
  McDonald, J.,Bayrak-Toydemir, P.,Pyeritz, R. E.> ;Genet. Med.. 2011 May 07
• Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
  McDonald, J.,Damjanovich, K.,Millson, A.,Wooderchak, W.,Chibuk, J. M.,Stevenson, D. A.,Gedge, F.,Bayrak-Toydemir, P.> ;Clin. Genet.. 2010 Dec 17
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