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183 related items for PubMed ID: 34153144

  • 1. Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
    Khan AH, Sutton J, Cree AJ, Khandhadia S, De Salvo G, Tobin J, Prakash P, Arora R, Amoaku W, Charbel Issa P, MacLaren RE, Bishop PN, Peto T, Mohamed Q, Steel DH, Sivaprasad S, Bailey C, Menon G, Kavanagh D, Lotery AJ.
    Hum Mutat; 2021 Sep; 42(9):1139-1152. PubMed ID: 34153144
    [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; 134(3):287-93. PubMed ID: 26767664
    [Abstract] [Full Text] [Related]

  • 3. 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; 3(2):100265. PubMed ID: 36909148
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Prevalence and Genetic Characteristics of Geographic Atrophy among Elderly Japanese with Age-Related Macular Degeneration.
    Sakurada Y, Yoneyama S, Sugiyama A, Tanabe N, Kikushima W, Mabuchi F, Kume A, Kubota T, Iijima H.
    PLoS One; 2016 Jul 01; 11(2):e0149978. PubMed ID: 26918864
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. 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]

  • 11. 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 11; 1(4):100087. PubMed ID: 36246952
    [Abstract] [Full Text] [Related]

  • 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 11; 52(7):484-92. PubMed ID: 25986072
    [Abstract] [Full Text] [Related]

  • 13. Prevalence, Risk, and Genetic Association of Reticular Pseudodrusen in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 Report 21.
    Domalpally A, Agrón E, Pak JW, Keenan TD, Ferris FL, Clemons TE, Chew EY.
    Ophthalmology; 2019 Dec 11; 126(12):1659-1666. PubMed ID: 31558345
    [Abstract] [Full Text] [Related]

  • 14. 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 Dec 11; 17(9):e0272260. PubMed ID: 36067162
    [Abstract] [Full Text] [Related]

  • 15. 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 Dec 11; 13():1028760. PubMed ID: 36643920
    [Abstract] [Full Text] [Related]

  • 16. Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
    de Jong S, de Breuk A, Bakker B, Katti S, Hoyng CB, Nilsson SC, Blom AM, van den Heuvel LP, den Hollander AI, Volokhina EB.
    Front Immunol; 2021 Dec 11; 12():789897. PubMed ID: 35069568
    [Abstract] [Full Text] [Related]

  • 17. Risk factors associated with reticular pseudodrusen versus large soft drusen.
    Boddu S, Lee MD, Marsiglia M, Marmor M, Freund KB, Smith RT.
    Am J Ophthalmol; 2014 May 11; 157(5):985-993.e2. PubMed ID: 24491417
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
    Geerlings MJ, Volokhina EB, de Jong EK, van de Kar N, Pauper M, Hoyng CB, van den Heuvel LP, den Hollander AI.
    Clin Genet; 2018 Oct 11; 94(3-4):330-338. PubMed ID: 29888403
    [Abstract] [Full Text] [Related]

  • 19. Risk characteristics of the combined geographic atrophy and choroidal neovascularisation phenotype in age-related macular degeneration.
    Saade C, Ganti B, Marmor M, Freund KB, Smith RT.
    Br J Ophthalmol; 2014 Dec 11; 98(12):1729-32. PubMed ID: 25091949
    [Abstract] [Full Text] [Related]

  • 20. Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study.
    Finger RP, Chong E, McGuinness MB, Robman LD, Aung KZ, Giles G, Baird PN, Guymer RH.
    Ophthalmology; 2016 Mar 11; 123(3):599-608. PubMed ID: 26681391
    [Abstract] [Full Text] [Related]

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