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Page 1
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. Hageman GS, et al. Among authors: silvestri g. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. doi: 10.1073/pnas.0501536102. Epub 2005 May 3. Proc Natl Acad Sci U S A. 2005. PMID: 15870199 Free PMC article.
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ. Abrera-Abeleda MA, et al. Among authors: silvestri g. J Med Genet. 2006 Jul;43(7):582-9. doi: 10.1136/jmg.2005.038315. Epub 2005 Nov 18. J Med Genet. 2006. PMID: 16299065 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: silvestri g. 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.
Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.
Morrison MA, Silveira AC, Huynh N, Jun G, Smith SE, Zacharaki F, Sato H, Loomis S, Andreoli MT, Adams SM, Radeke MJ, Jelcick AS, Yuan Y, Tsiloulis AN, Chatzoulis DZ, Silvestri G, Kotoula MG, Tsironi EE, Hollis BW, Chen R, Haider NB, Miller JW, Farrer LA, Hageman GS, Kim IK, Schaumberg DA, DeAngelis MM. Morrison MA, et al. Among authors: silvestri g. Hum Genomics. 2011 Oct;5(6):538-68. doi: 10.1186/1479-7364-5-6-538. Hum Genomics. 2011. PMID: 22155603 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: silvestri g. 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.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Ratnapriya R, et al. Among authors: silvestri g. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899048 Free PMC article.
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH. Grassmann F, et al. Among authors: silvestri g. Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14. Neuromolecular Med. 2015. PMID: 25680934 Free PMC article.
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, K… See abstract for full author list ➔ Fritsche LG, et al. Among authors: silvestri g. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
1,052 results