McDonald J - Search Results

1

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

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

Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing.

Botkin JR, Smith KR, Croyle RT, Baty BJ, Wylie JE, Dutson D, Chan A, Hamann HA, Lerman C, McDonald J, Venne V, Ward JH, Lyon E. Botkin JR, et al. Among authors: mcdonald j. Am J Med Genet A. 2003 Apr 30;118A(3):201-9. doi: 10.1002/ajmg.a.10102. Am J Med Genet A. 2003. PMID: 12673648

4

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.

5

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

6

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.

7

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

8

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.

9

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

10

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.

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