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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. Among authors: de jonge mi, de breuk a, de groot r. 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.
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.
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.
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. de Breuk A, et al. Ophthalmol Sci. 2021 Dec 6;1(4):100087. doi: 10.1016/j.xops.2021.100087. eCollection 2021 Dec. Ophthalmol Sci. 2021. PMID: 36246952 Free PMC article.
Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium.
Acar İE, Lores-Motta L, Colijn JM, Meester-Smoor MA, Verzijden T, Cougnard-Gregoire A, Ajana S, Merle BMJ, de Breuk A, Heesterbeek TJ, van den Akker E, Daha MR, Claes B, Pauleikhoff D, Hense HW, van Duijn CM, Fauser S, Hoyng CB, Delcourt C, Klaver CCW, Galesloot TE, den Hollander AI; EYE-RISK Consortium. Acar İE, et al. Among authors: de breuk a. Ophthalmology. 2020 Dec;127(12):1693-1709. doi: 10.1016/j.ophtha.2020.06.020. Epub 2020 Jun 14. Ophthalmology. 2020. PMID: 32553749 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.
19 results