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Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Léveillard T; French AMD Investigators; Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JR. Cipriani V, et al. Among authors: bird ac. Hum Mol Genet. 2012 Sep 15;21(18):4138-50. doi: 10.1093/hmg/dds225. Epub 2012 Jun 13. Hum Mol Genet. 2012. PMID: 22694956 Free PMC article.
Complement C3 variant and the risk of age-related macular degeneration.
Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT; Genetic Factors in AMD Study Group. Yates JR, et al. Among authors: bird ac. N Engl J Med. 2007 Aug 9;357(6):553-61. doi: 10.1056/NEJMoa072618. Epub 2007 Jul 18. N Engl J Med. 2007. PMID: 17634448 Free article.
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.
Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD. Sofat R, et al. Among authors: bird ac. Int J Epidemiol. 2012 Feb;41(1):250-62. doi: 10.1093/ije/dyr204. Epub 2012 Jan 13. Int J Epidemiol. 2012. PMID: 22253316 Free PMC article.
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: bird ac. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: bird ac. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.
Seven new loci associated with age-related macular degeneration.
Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivaku… See abstract for full author list ➔ Fritsche LG, et al. Among authors: bird ac. Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578. Epub 2013 Mar 3. Nat Genet. 2013. PMID: 23455636 Free PMC article.
474 results