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Page 1
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. 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.
Genome-wide scan for adult onset primary open angle glaucoma.
Wiggs JL, Allingham RR, Hossain A, Kern J, Auguste J, DelBono EA, Broomer B, Graham FL, Hauser M, Pericak-Vance M, Haines JL. Wiggs JL, et al. Hum Mol Genet. 2000 Apr 12;9(7):1109-17. doi: 10.1093/hmg/9.7.1109. Hum Mol Genet. 2000. PMID: 10767336
Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.
Schmidt S, Barcellos LF, DeSombre K, Rimmler JB, Lincoln RR, Bucher P, Saunders AM, Lai E, Martin ER, Vance JM, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines JL; Multiple Sclerosis Genetics Group. Schmidt S, et al. Am J Hum Genet. 2002 Mar;70(3):708-17. doi: 10.1086/339269. Epub 2002 Feb 11. Am J Hum Genet. 2002. PMID: 11836653 Free PMC article.
Multiple susceptibility loci for multiple sclerosis.
Haines JL, Bradford Y, Garcia ME, Reed AD, Neumeister E, Pericak-Vance MA, Rimmler JB, Menold MM, Martin ER, Oksenberg JR, Barcellos LF, Lincoln R, Hauser SL; Multiple Sclerosis Genetics Group. Haines JL, et al. Hum Mol Genet. 2002 Sep 15;11(19):2251-6. doi: 10.1093/hmg/11.19.2251. Hum Mol Genet. 2002. PMID: 12217953
myotilin Mutation found in second pedigree with LGMD1A.
Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. Hauser MA, et al. Am J Hum Genet. 2002 Dec;71(6):1428-32. doi: 10.1086/344532. Epub 2002 Nov 11. Am J Hum Genet. 2002. PMID: 12428213 Free PMC article.
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy.
Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M. Schmidt S, et al. Ophthalmic Genet. 2002 Dec;23(4):209-23. doi: 10.1076/opge.23.4.209.13883. Ophthalmic Genet. 2002. PMID: 12567264
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM. van der Walt JM, et al. Am J Hum Genet. 2003 Apr;72(4):804-11. doi: 10.1086/373937. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618962 Free PMC article.
Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study.
Hauser ER, Mooser V, Crossman DC, Haines JL, Jones CH, Winkelmann BR, Schmidt S, Scott WK, Roses AD, Pericak-Vance MA, Granger CB, Kraus WE; Design of the Genetics of Early Onset Cardiovascular Disease study. Hauser ER, et al. Am Heart J. 2003 Apr;145(4):602-13. doi: 10.1067/mhj.2003.13. Am Heart J. 2003. PMID: 12679755
696 results