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Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.
McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. McDonald JE, et al. Am J Med Genet. 2000 Aug 14;93(4):320-7. doi: 10.1002/1096-8628(20000814)93:4<320::aid-ajmg12>;2-r. Am J Med Genet. 2000. PMID: 10946360 Review.
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. Pediatrics. 2002 Jan;109(1):E12. doi: 10.1542/peds.109.1.e12. Pediatrics. 2002. PMID: 11773580
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. 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
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.
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. 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
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. 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
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. J Mol Diagn. 2007 Apr;9(2):258-65. doi: 10.2353/jmoldx.2007.060117. J Mol Diagn. 2007. PMID: 17384219 Free PMC article.
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. 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
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