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Journal Abstract Search

169 related items for PubMed ID: 28282489

  • 1. Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.
    Tan PL, Garrett ME, Willer JR, Campochiaro PA, Campochiaro B, Zack DJ, Ashley-Koch AE, Katsanis N.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1570-1576. PubMed ID: 28282489
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  • 2. Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population.
    Bonyadi M, Norouzi N, Babaei E, Jabbarpoor Bonyadi MH, Javadzadeh A, Yaseri M, Soheilian M.
    Int Ophthalmol; 2019 Mar 01; 39(3):551-556. PubMed ID: 29392637
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  • 3. Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.
    Hallam TM, Marchbank KJ, Harris CL, Osmond C, Shuttleworth VG, Griffiths H, Cree AJ, Kavanagh D, Lotery AJ.
    Invest Ophthalmol Vis Sci; 2020 Jun 03; 61(6):18. PubMed ID: 32516404
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  • 4. Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.
    Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM.
    Hum Mol Genet; 2015 Jul 01; 24(13):3861-70. PubMed ID: 25788521
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  • 6. Geographic distribution of rare variants associated with age-related macular degeneration.
    Geerlings MJ, Kersten E, Groenewoud JMM, Fritsche LG, Hoyng CB, de Jong EK, den Hollander AI.
    Mol Vis; 2018 Jul 01; 24():75-82. PubMed ID: 29410599
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  • 7. Effect of rare coding variants in the CFI gene on Factor I expression levels.
    de Jong S, Volokhina EB, de Breuk A, Nilsson SC, de Jong EK, van der Kar NCAJ, Bakker B, Hoyng CB, van den Heuvel LP, Blom AM, den Hollander AI.
    Hum Mol Genet; 2020 Aug 11; 29(14):2313-2324. PubMed ID: 32510551
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  • 8. Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.
    Momozawa Y, Akiyama M, Kamatani Y, Arakawa S, Yasuda M, Yoshida S, Oshima Y, Mori R, Tanaka K, Mori K, Inoue S, Terasaki H, Yasuma T, Honda S, Miki A, Inoue M, Fujisawa K, Takahashi K, Yasukawa T, Yanagi Y, Kadonosono K, Sonoda KH, Ishibashi T, Takahashi A, Kubo M.
    Hum Mol Genet; 2016 Nov 15; 25(22):5027-5034. PubMed ID: 28173125
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  • 11. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
    Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S.
    Nat Genet; 2013 Nov 15; 45(11):1366-70. PubMed ID: 24036952
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  • 12. Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
    Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E.
    J Med Genet; 2015 Jul 15; 52(7):484-92. PubMed ID: 25986072
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  • 14. Complement factor I and age-related macular degeneration.
    Alexander P, Gibson J, Cree AJ, Ennis S, Lotery AJ.
    Mol Vis; 2014 Jul 15; 20():1253-7. PubMed ID: 25352734
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  • 16. An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
    Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M, Wihuri P, Mäkelä J, Kallionpää RE, Makkonen E, Knopp T, Mannermaa A, Mäkinen E, Moilanen AM, Tezel TH, SCOPE Study group, Waheed NK.
    PLoS One; 2022 Jul 15; 17(9):e0272260. PubMed ID: 36067162
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  • 17. Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.
    Hallam TM, Andreadi A, Sharp SJ, Brocklebank V, Gardenal E, Dreismann A, SCOPE Study Group, Lotery AJ, Marchbank KJ, Harris CL, Jones AV, Kavanagh D.
    J Biol Chem; 2024 Jul 15; 300(7):107452. PubMed ID: 38852887
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  • 18. Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.
    Java A, Baciu P, Widjajahakim R, Sung YJ, Yang J, Kavanagh D, Atkinson J, Seddon J.
    Transl Vis Sci Technol; 2020 Aug 15; 9(9):37. PubMed ID: 32908800
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  • 19. Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
    Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI.
    Ophthalmology; 2018 Sep 15; 125(9):1433-1443. PubMed ID: 29706360
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  • 20. Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.
    Yu Q, Zhu J, Yao Y, Sun C.
    Biosci Rep; 2020 Apr 30; 40(4):. PubMed ID: 32215612
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