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Journal Abstract Search

159 related items for PubMed ID: 32908800

  • 1. 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; 9(9):37. PubMed ID: 32908800
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 Jan 01; 13():1028760. PubMed ID: 36643920
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 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. 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 Jul 01; 12():789897. PubMed ID: 35069568
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 Jun 03; 17(9):e0272260. PubMed ID: 36067162
    [Abstract] [Full Text] [Related]

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  • 10. 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 03; 300(7):107452. PubMed ID: 38852887
    [Abstract] [Full Text] [Related]

  • 11. Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
    Java A, Pozzi N, Schroeder MC, Hu Z, Huan T, Seddon JM, Atkinson J.
    Hum Mol Genet; 2022 Oct 28; 31(21):3683-3693. PubMed ID: 35531992
    [Abstract] [Full Text] [Related]

  • 12. Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE.
    Gerogianni A, Baas LM, Sjöström DJ, van de Kar NCAJ, Pullen M, van de Peppel SJ, Nilsson PH, van den Heuvel LP.
    Front Immunol; 2023 Oct 28; 14():1279612. PubMed ID: 37954579
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.
    Jones AV, MacGregor S, Han X, Francis J, Harris C, SCOPE Study group, Kavanagh D, Lotery A, Waheed N.
    Ophthalmol Sci; 2022 Jun 01; 2(2):. PubMed ID: 35693873
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 42(9):1139-1152. PubMed ID: 34153144
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 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 01; 94(3-4):330-338. PubMed ID: 29888403
    [Abstract] [Full Text] [Related]

  • 19. Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
    Shoshany N, Weiner C, Safir M, Einan-Lifshitz A, Pokroy R, Kol A, Modai S, Shomron N, Pras E.
    Genes (Basel); 2019 Oct 18; 10(10):. PubMed ID: 31635417
    [Abstract] [Full Text] [Related]

  • 20. 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 18; 52(7):484-92. PubMed ID: 25986072
    [Abstract] [Full Text] [Related]

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