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399 results

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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: lotery aj. 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.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Davidson AE, et al. Among authors: lotery aj. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853238 Free PMC article.
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: lotery aj. 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.
Common genetic variants associated with open-angle glaucoma.
Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. Ramdas WD, et al. Among authors: lotery aj. Hum Mol Genet. 2011 Jun 15;20(12):2464-71. doi: 10.1093/hmg/ddr120. Epub 2011 Mar 22. Hum Mol Genet. 2011. PMID: 21427129
Clinical implications of old and new genes for open-angle glaucoma.
Ramdas WD, van Koolwijk LM, Cree AJ, Janssens AC, Amin N, de Jong PT, Wolfs RC, Gibson J, Kirwan JF, Hofman A, Rivadeneira F, Oostra BA, Uitterlinden AG, Ennis S, Lotery AJ, Lemij HG, Klaver CC, Vingerling JR, Jansonius NM, van Duijn CM. Ramdas WD, et al. Among authors: lotery aj. Ophthalmology. 2011 Dec;118(12):2389-97. doi: 10.1016/j.ophtha.2011.05.040. Epub 2011 Aug 27. Ophthalmology. 2011. PMID: 21872936
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Among authors: lotery aj. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. MacLaren RE, et al. Among authors: lotery aj. Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16. Lancet. 2014. PMID: 24439297 Free PMC article. Clinical Trial.
399 results