Jamie McDonald

Jamie McDonald

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Jamie McDonald

Jamie McDonald

Publications by authors named "Jamie McDonald"

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Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.

J Hum Genet 2019 Apr 6;64(4):333-339. Epub 2019 Feb 6.

Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28040, Madrid, Spain.

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http://dx.doi.org/10.1038/s10038-019-0564-xDOI Listing
April 2019

Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.

J Am Acad Dermatol 2019 Feb 25. Epub 2019 Feb 25.

Department of Pathology, University of Utah, Salt Lake City, Utah; Department of Radiology, University of Utah, Salt Lake City, Utah. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2018.11.014DOI Listing
February 2019

A theory for polymicrogyria and brain arteriovenous malformations in HHT.

Neurology 2019 Jan;92(1):34-42

From the Department of Medical Imaging (J.M.K., L.C., S.M., T.K.), Division of Respirology (M.E.F.) and Department of Paediatrics (F.R.), Department of Medicine, and Division of Neurosurgery (T.K.), Department of Surgery, University of Toronto; Division of Neuroradiology (J.M.K., L.C., S.M., T.K.), Toronto Western Hospital, University Health Network, Canada; Departments of Radiology and Pathology (J.M.), University of Utah School of Medicine, Salt Lake City; Toronto HHT Centre, Division of Respirology, Department of Medicine, and Li Ka Shing Knowledge Institute (M.E.F.), St. Michael's Hospital, Toronto; and Division of Respiratory Medicine (F.R.), the Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000006686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336165PMC
January 2019

Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia.

Laryngoscope 2018 07 24;128(7):1714-1719. Epub 2017 Nov 24.

Division of Otolaryngology-Head and Neck Surgery, University of Utah, Salt Lake City, Utah, U.S.A.

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http://dx.doi.org/10.1002/lary.27015DOI Listing
July 2018

Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.

Am J Med Genet A 2018 07 7;176(7):1618-1621. Epub 2018 May 7.

ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38695DOI Listing
July 2018

The effects of nasal closure on quality of life in patients with hereditary hemorrhagic telangiectasia.

Laryngoscope Investig Otolaryngol 2018 Jun 19;3(3):178-181. Epub 2018 Apr 19.

HHT Center for Excellence, University of Utah Salt Lake City Utah U.S.A.

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http://dx.doi.org/10.1002/lio2.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057218PMC
June 2018

Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.

J Clin Neurosci 2018 May 23;51:22-28. Epub 2018 Feb 23.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah School of Medicine, Salt Lake City, UT, United States; University of Utah Hereditary Hemorrhagic Telangiectasia Center of Excellence, Salt Lake City, UT, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2018.01.019DOI Listing
May 2018

Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations.

J Clin Neurosci 2018 Apr 3;50:51-57. Epub 2018 Feb 3.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah School of Medicine, Salt Lake City, UT, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2018.01.010DOI Listing
April 2018

Vitamin D levels are associated with epistaxis severity and bleeding duration in hereditary hemorrhagic telangiectasia.

Biomark Med 2018 04 14;12(4):365-371. Epub 2018 Mar 14.

Divisions of Cardiovascular Medicine and Pediatric Cardiology, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.2217/bmm-2017-0229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367804PMC
April 2018

Pathogenic variants that alter protein code often disrupt splicing.

Nat Genet 2017 Jun 17;49(6):848-855. Epub 2017 Apr 17.

Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/ng.3837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679692PMC
June 2017

Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis.

J Community Genet 2016 Jan 4;7(1):81-9. Epub 2015 Sep 4.

Graduate Program in Genetic Counseling, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.

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http://dx.doi.org/10.1007/s12687-015-0254-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715812PMC
January 2016

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

Front Genet 2015 26;6. Epub 2015 Jan 26.

Department of Pathology, University of Utah Salt Lake City, UT, USA ; ARUP Institute for Clinical and Experimental Pathology Salt Lake City, UT, USA.

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http://dx.doi.org/10.3389/fgene.2015.00001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306304PMC
February 2015

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

J Neurosurg Pediatr 2012 Jun;9(6):654-9

Department of Pediatrics, Division of Medical Genetics, Primary Children’s Medical Center, Salt Lake City, UT 84113, USA.

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http://dx.doi.org/10.3171/2012.2.PEDS11446DOI Listing
June 2012

Effect of medication and STN-DBS on postural control in subjects with Parkinson's disease.

Parkinsonism Relat Disord 2012 Mar 29;18(3):285-9. Epub 2011 Nov 29.

Department of Neurology and Neurological Sciences, Rm A343, 300 Pasteur Drive, Stanford University School of Medicine, Stanford, CA 94303, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2011.11.005DOI Listing
March 2012

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Eur J Med Genet 2012 Feb 8;55(2):91-5. Epub 2011 Dec 8.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110012
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http://dx.doi.org/10.1016/j.ejmg.2011.11.008DOI Listing
February 2012

Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.

Genet Med 2011 Jul;13(7):607-16

HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132-2140, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182136d32DOI Listing
July 2011

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

J Med Genet 2011 May 4;48(5):358-60. Epub 2011 Mar 4.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1136/jmg.2010.088286DOI Listing
May 2011

Vitamin D status is associated with relapse rate in pediatric-onset multiple sclerosis.

Ann Neurol 2010 May;67(5):618-24

MS Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94117, USA.

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http://dx.doi.org/10.1002/ana.21972DOI Listing
May 2010

Patient-physician communication regarding use of complementary therapies during cancer treatment.

J Psychosoc Oncol 2005 ;23(4):35-60

School of Social Work, University of South Florida, Tampa, FL 33620, USA.

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October 2006

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Am J Med Genet A 2006 Oct;140(20):2155-62

Associated Regional and University Pathologists (ARUP), Institute of Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/ajmg.a.31450DOI Listing
October 2006

Exploring genetic counseling communication patterns: the role of teaching and counseling approaches.

J Genet Couns 2006 Jun;15(3):179-89

University of Utah College of Nursing, 10 South 2000 East, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1007/s10897-005-9011-6DOI Listing
June 2006

The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.

Genet Test 2005 ;9(2):121-5

DNA Diagnostic Laboratory, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.

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http://www.liebertpub.com/doi/10.1089/gte.2005.9.121
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http://dx.doi.org/10.1089/gte.2005.9.121DOI Listing
May 2006

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

Am J Med Genet A 2006 Mar;140(5):463-70

Department of Pathology, University of Utah, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/ajmg.a.31101DOI Listing
March 2006

Hereditary hemorrhagic telangiectasia.

Haematologica 2005 Jun;90(6):728-32

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June 2005

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Genet Med 2004 Jul-Aug;6(4):175-91

Department of Pathology, Associated Regional University Pathologists (ARUP), University of Utah, 50 N. Medical Drive, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.109701.GIM.0000132689.25644.7CDOI Listing
January 2005