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Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, Hewitt AW, Vote BJ, Schmied D, Guymer RH, Weber BH, Baird PN. Grassmann F, et al. Among authors: weber bh. J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0. J Neuroinflammation. 2016. PMID: 27090374 Free PMC article.
Systemic complement activation in age-related macular degeneration.
Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, Oppermann M. Scholl HP, et al. Among authors: weber bh. PLoS One. 2008 Jul 2;3(7):e2593. doi: 10.1371/journal.pone.0002593. PLoS One. 2008. PMID: 18596911 Free PMC article.
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.
McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A, Silvestri G. McKay GJ, et al. Among authors: weber bh. Hum Mutat. 2011 Dec;32(12):1407-16. doi: 10.1002/humu.21577. Epub 2011 Sep 12. Hum Mutat. 2011. PMID: 21882290 Free PMC article.
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mößner A, Pauleikhoff D, Adrion C, Mansmann U, Scholl HP, Holz FG, Weber BH. Fritsche LG, et al. Among authors: weber bh. Invest Ophthalmol Vis Sci. 2012 Apr 30;53(4):2112-8. doi: 10.1167/iovs.11-8785. Invest Ophthalmol Vis Sci. 2012. PMID: 22427542
Modelling the genetic risk in age-related macular degeneration.
Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BH. Grassmann F, et al. Among authors: weber bh. PLoS One. 2012;7(5):e37979. doi: 10.1371/journal.pone.0037979. Epub 2012 May 30. PLoS One. 2012. PMID: 22666427 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, Sivakumaran T… See abstract for full author list ➔ Fritsche LG, et al. Among authors: weber bh. 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.
355 results