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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D… See abstract for full author list ➔ Aung T, et al. Among authors: fingert jh. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553957 Free PMC article.
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Fingert JH, et al. Hum Mol Genet. 1999 May;8(5):899-905. doi: 10.1093/hmg/8.5.899. Hum Mol Genet. 1999. PMID: 10196380
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.
Mackey DA, Healey DL, Fingert JH, Coote MA, Wong TL, Wilkinson CH, McCartney PJ, Rait JL, de Graaf AP, Stone EM, Craig JE. Mackey DA, et al. Among authors: fingert jh. Arch Ophthalmol. 2003 Aug;121(8):1172-80. doi: 10.1001/archopht.121.8.1172. Arch Ophthalmol. 2003. PMID: 12912696
The optic nerve head in myocilin glaucoma.
Hewitt AW, Bennett SL, Fingert JH, Cooper RL, Stone EM, Craig JE, Mackey DA. Hewitt AW, et al. Among authors: fingert jh. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):238-43. doi: 10.1167/iovs.06-0611. Invest Ophthalmol Vis Sci. 2007. PMID: 17197538
Heritable features of the optic disc: a novel twin method for determining genetic significance.
Hewitt AW, Poulsen JP, Alward WL, Bennett SL, Budde WM, Cooper RL, Craig JE, Fingert JH, Foster PJ, Garway-Heath DF, Green CM, Hammond CJ, Hayreh SS, Jonas JB, Kaufman PL, Miller NR, Morgan WH, Newman NJ, Quigley HA, Samples JR, Spaeth GL, Pesudovs K, Mackey DA. Hewitt AW, et al. Among authors: fingert jh. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2469-75. doi: 10.1167/iovs.06-1470. Invest Ophthalmol Vis Sci. 2007. PMID: 17525172
168 results