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Page 1
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Among authors: klaver cc. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615668 Free PMC article.
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM. Kayser M, et al. Among authors: klaver cc. Am J Hum Genet. 2008 Feb;82(2):411-23. doi: 10.1016/j.ajhg.2007.10.003. Epub 2008 Jan 25. Am J Hum Genet. 2008. PMID: 18252221 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
The complement component 5 gene and age-related macular degeneration.
Baas DC, Ho L, Ennis S, Merriam JE, Tanck MW, Uitterlinden AG, de Jong PT, Cree AJ, Griffiths HL, Rivadeneira F, Hofman A, van Duijn C, Smith RT, Barile GR, Gorgels TG, Vingerling JR, Klaver CC, Lotery AJ, Allikmets R, Bergen AA. Baas DC, et al. Among authors: klaver cc. Ophthalmology. 2010 Mar;117(3):500-11. doi: 10.1016/j.ophtha.2009.08.032. Epub 2009 Dec 22. Ophthalmology. 2010. PMID: 20022638 Free PMC article.
369 results