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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
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. Toydemir RM, et al. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 Sep 26. Am J Hum Genet. 2006. PMID: 17033969 Free PMC article.
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.
Identifying common genetic variants by high-resolution melting.
Vandersteen JG, Bayrak-Toydemir P, Palais RA, Wittwer CT. Vandersteen JG, et al. Clin Chem. 2007 Jul;53(7):1191-8. doi: 10.1373/clinchem.2007.085407. Epub 2007 May 24. Clin Chem. 2007. PMID: 17525106
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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