McDonald J - Search Results

1

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

Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. Bayrak-Toydemir P, et al. Among authors: mcdonald j. Am J Med Genet A. 2006 Oct 15;140(20):2155-62. doi: 10.1002/ajmg.a.31450. Am J Med Genet A. 2006. PMID: 16969873

2

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M. Morgan T, et al. Among authors: mcdonald j. Pediatrics. 2002 Jan;109(1):E12. doi: 10.1542/peds.109.1.e12. Pediatrics. 2002. PMID: 11773580

3

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

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. Bayrak-Toydemir P, et al. Among authors: mcdonald j. Genet Med. 2004 Jul-Aug;6(4):175-91. doi: 10.1097/01.gim.0000132689.25644.7c. Genet Med. 2004. PMID: 15266205 Free article. Review.

4

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

Mao R, McDonald J, Cantwell M, Tang W, Ward K. Mao R, et al. Among authors: mcdonald j. Genet Test. 2005 Summer;9(2):121-5. doi: 10.1089/gte.2005.9.121. Genet Test. 2005. PMID: 15943551

5

Hereditary hemorrhagic telangiectasia.

McDonald J, Bayrak-Toydemir P. McDonald J, et al. Haematologica. 2005 Jun;90(6):728-32. Haematologica. 2005. PMID: 15951283 No abstract available.

6

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

Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. Bayrak-Toydemir P, et al. Among authors: mcdonald j. Am J Med Genet A. 2006 Mar 1;140(5):463-70. doi: 10.1002/ajmg.a.31101. Am J Med Genet A. 2006. PMID: 16470787

7

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. Gedge F, et al. Among authors: mcdonald j. J Mol Diagn. 2007 Apr;9(2):258-65. doi: 10.2353/jmoldx.2007.060117. J Mol Diagn. 2007. PMID: 17384219 Free PMC article.

8

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E. Bayrak-Toydemir P, et al. Among authors: mcdonald j. Exp Mol Pathol. 2008 Aug;85(1):45-9. doi: 10.1016/j.yexmp.2008.03.006. Epub 2008 Apr 8. Exp Mol Pathol. 2008. PMID: 18495117

9

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P. McDonald J, et al. J Mol Diagn. 2009 Nov;11(6):569-75. doi: 10.2353/jmoldx.2009.080148. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767588 Free PMC article.

10

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 JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. McDonald J, et al. Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16. Clin Genet. 2011. PMID: 21158752

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