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New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Springelkamp H, Iglesias AI, Mishra A, Höhn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, Gibson J, Bailey JN, Vithana EN, Gharahkhani P, Boutin T, Ramdas WD, Zeller T, Luben RN, Yonova-Doing E, Viswanathan AC, Yazar S, Cree AJ, Haines JL, Koh JY, Souzeau E, Wilson JF, Amin N, Müller C, Venturini C, Kearns LS, Kang JH; NEIGHBORHOOD Consortium; Tham YC, Zhou T, van Leeuwen EM, Nickels S, Sanfilippo P, Liao J, van der Linde H, Zhao W, van Koolwijk LM, Zheng L, Rivadeneira F, Baskaran M, van der Lee SJ, Perera S, de Jong PT, Oostra BA, Uitterlinden AG, Fan Q, Hofman A, Tai ES, Vingerling JR, Sim X, Wolfs RC, Teo YY, Lemij HG, Khor CC, Willemsen R, Lackner KJ, Aung T, Jansonius NM, Montgomery G, Wild PS, Young TL, Burdon KP, Hysi PG, Pasquale LR, Wong TY, Klaver CC, Hewitt AW, Jonas JB, Mitchell P, Lotery AJ, Foster PJ, Vitart V, Pfeiffer N, Craig JE, Mackey DA, Hammond CJ, Wiggs JL, Cheng CY, van Duijn CM, MacGregor S. Springelkamp H, et al. Among authors: lotery aj. Hum Mol Genet. 2017 Jan 15;26(2):438-453. doi: 10.1093/hmg/ddw399. Hum Mol Genet. 2017. PMID: 28073927 Free PMC article.
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.
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 variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DS, Tam PO, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JC, Karwatowski WS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K. Thorleifsson G, et al. Among authors: lotery aj. Nat Genet. 2010 Oct;42(10):906-9. doi: 10.1038/ng.661. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835238 Free PMC article.
400 results