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Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A. de Jong S, et al. Among authors: de breuk a. Stem Cell Res. 2022 Jul;62:102797. doi: 10.1016/j.scr.2022.102797. Epub 2022 Apr 30. Stem Cell Res. 2022. PMID: 35526386 Free article.
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: de jong ek, de breuk a. Hum Mol Genet. 2020 Aug 11;29(14):2313-2324. doi: 10.1093/hmg/ddaa114. Hum Mol Genet. 2020. PMID: 32510551 Free PMC article.
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. de Breuk A, et al. Among authors: de jong s. Ophthalmology. 2021 Nov;128(11):1604-1617. doi: 10.1016/j.ophtha.2020.07.037. Epub 2020 Jul 25. Ophthalmology. 2021. PMID: 32717343 Free article.
Genetic Risk, Lifestyle, and Age-Related Macular Degeneration in Europe: The EYE-RISK Consortium.
Colijn JM, Meester-Smoor M, Verzijden T, de Breuk A, Silva R, Merle BMJ, Cougnard-Grégoire A, Hoyng CB, Fauser S, Coolen A, Creuzot-Garcher C, Hense HW, Ueffing M, Delcourt C, den Hollander AI, Klaver CCW; EYE-RISK Consortium. Colijn JM, et al. Among authors: de breuk a. Ophthalmology. 2021 Jul;128(7):1039-1049. doi: 10.1016/j.ophtha.2020.11.024. Epub 2020 Nov 28. Ophthalmology. 2021. PMID: 33253757 Free article.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene.
Koolen L, Gagliardi G, Ten Brink SCA, de Breuk A, Heesterbeek TJ, Hoyng CB, Albert S, den Hollander AI. Koolen L, et al. Among authors: de breuk a. Stem Cell Res. 2022 Apr;60:102669. doi: 10.1016/j.scr.2022.102669. Epub 2022 Jan 15. Stem Cell Res. 2022. PMID: 35063911 Free 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: de breuk a. 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.
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A. de Jong S, et al. Among authors: de breuk a. Stem Cell Res. 2022 Jul;62:102796. doi: 10.1016/j.scr.2022.102796. Epub 2022 Apr 30. Stem Cell Res. 2022. PMID: 35526389 Free article.
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