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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. de Jong S, et al. Among authors: volokhina eb. Hum Mol Genet. 2020 Aug 11;29(14):2313-2324. doi: 10.1093/hmg/ddaa114. Hum Mol Genet. 2020. PMID: 32510551 Free PMC article.
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. de Jong S, et al. Among authors: volokhina eb. Front Immunol. 2022 Jan 5;12:789897. doi: 10.3389/fimmu.2021.789897. eCollection 2021. Front Immunol. 2022. PMID: 35069568 Free PMC article. Clinical Trial.
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.
Duvvari MR, Paun CC, Buitendijk GH, Saksens NT, Volokhina EB, Ristau T, Schoenmaker-Koller FE, van de Ven JP, Groenewoud JM, van den Heuvel LP, Hofman A, Fauser S, Uitterlinden AG, Klaver CC, Hoyng CB, de Jong EK, den Hollander AI. Duvvari MR, et al. Among authors: volokhina eb. PLoS One. 2014 Apr 15;9(4):e94165. doi: 10.1371/journal.pone.0094165. eCollection 2014. PLoS One. 2014. PMID: 24736606 Free PMC article.
Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.
Willems E, Lorés-Motta L, Zanichelli A, Suffritti C, van der Flier M, van der Molen RG, Langereis JD, van Drongelen J, van den Heuvel LP, Volokhina E, van de Kar NC, Keizer-Garritsen J, Levin M, Herberg JA, Martinon-Torres F, Wessels HJ, de Breuk A, Fauser S, Hoyng CB, den Hollander AI, de Groot R, van Gool AJ, Gloerich J, de Jonge MI. Willems E, et al. Clin Transl Immunology. 2020 Dec 9;9(12):e1225. doi: 10.1002/cti2.1225. eCollection 2020. Clin Transl Immunology. 2020. PMID: 33318796 Free PMC article.
51 results