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Journal Abstract Search

289 related items for PubMed ID: 27918759

  • 1. The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
    Geerlings MJ, Kremlitzka M, Bakker B, Nilsson SC, Saksens NT, Lechanteur YT, Pauper M, Corominas J, Fauser S, Hoyng CB, Blom AM, de Jong EK, den Hollander AI.
    JAMA Ophthalmol; 2017 Jan 01; 135(1):39-46. PubMed ID: 27918759
    [Abstract] [Full Text] [Related]

  • 2. Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
    Saksens NT, Geerlings MJ, Bakker B, Schick T, Daha MR, Fauser S, Boon CJ, de Jong EK, Hoyng CB, den Hollander AI.
    JAMA Ophthalmol; 2016 Mar 01; 134(3):287-93. PubMed ID: 26767664
    [Abstract] [Full Text] [Related]

  • 3. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration.
    Smailhodzic D, Klaver CC, Klevering BJ, Boon CJ, Groenewoud JM, Kirchhof B, Daha MR, den Hollander AI, Hoyng CB.
    Ophthalmology; 2012 Feb 01; 119(2):339-46. PubMed ID: 22133792
    [Abstract] [Full Text] [Related]

  • 4. Genetic Risk in Families with Age-Related Macular Degeneration.
    de Breuk A, Lechanteur YTE, Heesterbeek TJ, Fauser S, Klaver CCW, Hoyng CB, den Hollander AI.
    Ophthalmol Sci; 2021 Dec 01; 1(4):100087. PubMed ID: 36246952
    [Abstract] [Full Text] [Related]

  • 5. Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.
    de Breuk A, Acar IE, Kersten E, Schijvenaars MMVAP, Colijn JM, Haer-Wigman L, Bakker B, de Jong S, Meester-Smoor MA, Verzijden T, Missotten TOAR, Monés J, Biarnés M, Pauleikhoff D, Hense HW, Silva R, Nunes S, Melo JB, Fauser S, Hoyng CB, Ueffing M, Coenen MJH, Klaver CCW, den Hollander AI, EYE-RISK Consortium.
    Ophthalmology; 2021 Nov 01; 128(11):1604-1617. PubMed ID: 32717343
    [Abstract] [Full Text] [Related]

  • 6. A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
    Hallam TM, Cox TE, Smith-Jackson K, Brocklebank V, Baral AJ, Tzoumas N, Steel DH, Wong EKS, Shuttleworth VG, Lotery AJ, Harris CL, Marchbank KJ, Kavanagh D.
    Front Immunol; 2022 Nov 01; 13():1028760. PubMed ID: 36643920
    [Abstract] [Full Text] [Related]

  • 7. Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
    Seddon JM, Rosner B, De D, Huan T, Java A, Atkinson J.
    Ophthalmol Sci; 2023 Jun 01; 3(2):100265. PubMed ID: 36909148
    [Abstract] [Full Text] [Related]

  • 8. Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration.
    Grunin M, de Jong S, Palmer EL, Jin B, Rinker D, Moth C, Capra A, Haines JL, Bush WS, den Hollander AI, IAMDGC.
    medRxiv; 2023 Aug 31. PubMed ID: 37693462
    [Abstract] [Full Text] [Related]

  • 9. Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
    de Breuk A, Heesterbeek TJ, Bakker B, Verzijden T, Lechanteur YTE, Klaver CCW, den Hollander AI, Hoyng CB.
    JAMA Ophthalmol; 2021 Nov 01; 139(11):1218-1226. PubMed ID: 34647987
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 45(11):1366-70. PubMed ID: 24036952
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 9(9):37. PubMed ID: 32908800
    [Abstract] [Full Text] [Related]

  • 12. Association between vitamin D status and age-related macular degeneration by genetic risk.
    Millen AE, Meyers KJ, Liu Z, Engelman CD, Wallace RB, LeBlanc ES, Tinker LF, Iyengar SK, Robinson JG, Sarto GE, Mares JA.
    JAMA Ophthalmol; 2015 Oct 01; 133(10):1171-9. PubMed ID: 26312598
    [Abstract] [Full Text] [Related]

  • 13. 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 Oct 01; 24():75-82. PubMed ID: 29410599
    [Abstract] [Full Text] [Related]

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  • 16. Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
    de Jong S, de Breuk A, Volokhina EB, Bakker B, Garanto A, Fauser S, Katti S, Hoyng CB, Lechanteur YTE, van den Heuvel LP, den Hollander AI.
    Hum Mol Genet; 2022 Feb 03; 31(3):455-470. PubMed ID: 34508573
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.
    Duvvari MR, Saksens NT, van de Ven JP, de Jong-Hesse Y, Schick T, Nillesen WM, Fauser S, Hoefsloot LH, Hoyng CB, de Jong EK, den Hollander AI.
    Mol Vis; 2015 Aug 11; 21():285-92. PubMed ID: 25814826
    [Abstract] [Full Text] [Related]

  • 19. Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.
    Kersten E, Geerlings MJ, den Hollander AI, de Jong EK, Fauser S, Peto T, Hoyng CB.
    JAMA Ophthalmol; 2017 Oct 01; 135(10):1037-1044. PubMed ID: 28859202
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 300(7):107452. PubMed ID: 38852887
    [Abstract] [Full Text] [Related]

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