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Page 1
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: klaver cc. 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: klaver cc. 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.
Phenotypic features of patients with NR2E3 mutations.
Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA. Pachydaki SI, et al. Among authors: klaver cc. Arch Ophthalmol. 2009 Jan;127(1):71-5. doi: 10.1001/archophthalmol.2008.534. Arch Ophthalmol. 2009. PMID: 19139342
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. Boon CJ, et al. Among authors: klaver cc. Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17. Mol Immunol. 2009. PMID: 19297022 Review.
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Among authors: klaver cc. Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: 10.1016/j.ophtha.2009.03.053. Epub 2009 Jul 9. Ophthalmology. 2009. PMID: 19592100
378 results