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Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R. Burke TR, et al. Among authors: smith rt. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4458-67. doi: 10.1167/iovs.11-9166. Invest Ophthalmol Vis Sci. 2012. PMID: 22661473 Free PMC article.
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. Hageman GS, et al. Among authors: smith rt, smith rj. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. doi: 10.1073/pnas.0501536102. Epub 2005 May 3. Proc Natl Acad Sci U S A. 2005. PMID: 15870199 Free PMC article.
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT; AMD Genetics Clinical Study Group; Hageman GS, Dean M, Allikmets R. Gold B, et al. Among authors: smith rt. Nat Genet. 2006 Apr;38(4):458-62. doi: 10.1038/ng1750. Epub 2006 Mar 5. Nat Genet. 2006. PMID: 16518403 Free PMC article.
451 results