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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, Khan JC,… See abstract for full author list ➔ Fritsche LG, et al. Among authors: martin tm. 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.
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: martin tm. 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.
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS. Schultz DW, et al. Among authors: martin tm. Hum Mol Genet. 2003 Dec 15;12(24):3315-23. doi: 10.1093/hmg/ddg348. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570714
Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci.
Huang XF, Li Z, De Guzman E, Robinson P, Gensler L, Ward MM, Rahbar MH, Lee M, Weisman MH, Macfarlane GJ, Jones GT, Klingberg E, Forsblad-d'Elia H, McCluskey P, Wakefield D, Coombes JS, Fiatarone Singh MA, Mavros Y, Vlahovich N, Hughes DC, Marzo-Ortega H, Van der Horste-Bruinsma I, O'Shea F, Martin TM, Rosenbaum J, Breban M, Jin ZB, Leo P, Reveille JD, Wordsworth BP, Brown MA. Huang XF, et al. Among authors: martin tm. Invest Ophthalmol Vis Sci. 2020 Jun 3;61(6):3. doi: 10.1167/iovs.61.6.3. Invest Ophthalmol Vis Sci. 2020. PMID: 32492107 Free PMC article.
Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis.
Robinson PC, Claushuis TA, Cortes A, Martin TM, Evans DM, Leo P, Mukhopadhyay P, Bradbury LA, Cremin K, Harris J, Maksymowych WP, Inman RD, Rahman P, Haroon N, Gensler L, Powell JE, van der Horst-Bruinsma IE, Hewitt AW, Craig JE, Lim LL, Wakefield D, McCluskey P, Voigt V, Fleming P; Spondyloarthritis Research Consortium of Canada, Australio-Anglo-American Spondylitis Consortium, International Genetics of Ankylosing Spondylitis Consortium, Wellcome Trust Case Control Study 2, Mariapia Degli-Esposti; Degli-Esposti M, Pointon JJ, Weisman MH, Wordsworth BP, Reveille JD, Rosenbaum JT, Brown MA. Robinson PC, et al. Among authors: martin tm. Arthritis Rheumatol. 2015 Jan;67(1):140-51. doi: 10.1002/art.38873. Arthritis Rheumatol. 2015. PMID: 25200001 Free PMC article.
Association of interleukin 23 receptor gene with sarcoidosis.
Kim HS, Choi D, Lim LL, Allada G, Smith JR, Austin CR, Doyle TM, Goodwin KA, Rosenbaum JT, Martin TM. Kim HS, et al. Among authors: martin tm. Dis Markers. 2011;31(1):17-24. doi: 10.3233/DMA-2011-0796. Dis Markers. 2011. PMID: 21846945 Free PMC article.
161 results