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Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium

Autor: de Breuk, Anita, Acar, Ilhan E., Kersten, Eveline, Schijvenaars, Mascha M.V.A.P., Colijn, Johanna M., Haer-Wigman, Lonneke, Bakker, Bjorn, de Jong, Sarah, Meester-Smoor, Magda, Verzijden, Timo, Missotten, Tom O.A.R., Monés, Jordi, Biarnés, Marc, Pauleikhoff, Daniel, Hense, Hans W., Silva, Rufino, Nunes, Sandrina, Melo, Joana B., Fauser, Sascha, Hoyng, Carel B., Ueffing, Marius, Coenen, Marieke J.H., Klaver, Caroline C.W., den Hollander, Anneke I., Ajana, Soufiane, Arango-Gonzalez, Blanca, Badura, Franz, De la Cerda, Berta, Borrell, Anna, Cougnard-Grégoire, Audrey, Dammeier, Sascha, de Jong, Eiko K., Delcourt, Cécile, Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Ikram, A., Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Merle, Bénédicte M.J., Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodríguez, Eduardo, Vingerling, Johannes, Zumbansen, Markus

Publikováno v: de Breuk, A, Acar, I E, Kersten, E, Schijvenaars, M M V A P, Colijn, J M, Haer-Wigman, L, Bakker, B, de Jong, S, Meester-Smoor, M, Verzijden, T, Missotten, T O A R, Monés, J, Biarnés, M, Pauleikhoff, D, Hense, H W, Silva, R, Nunes, S, Melo, J B, Fauser, S, Hoyng, C B, Ueffing, M, Coenen, M J H, Klaver, C C W, den Hollander, A I, Ajana, S, Arango-Gonzalez, B, Badura, F, De la Cerda, B, Biarnés, M, Borrell, A, Colijn, J M, Cougnard-Grégoire, A, Dammeier, S, de Jong, E K, Delcourt, C, den Hollander, A I, Diether, S, Emri, E, Endermann, T, Ferraro, L L, Garcia, M, Heesterbeek, T J, Honisch, S, Ikram, A, Kersten, E, Kilger, E, Klaver, C C W, Langen, H, Lengyel, I, Luthert, P, Meester-Smoor, M, Merle, B M J, Monés, J, Nogoceke, E, Peto, T, Pool, F M, Rodríguez, E, Ueffing, M, Verzijden, T, Vingerling, J & Zumbansen, M 2021, ' Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium ', Ophthalmology, vol. 128, no. 11, pp. 1604-1617 . https://doi.org/10.1016/j.ophtha.2020.07.037

PurposeTo develop a genotype assay to assess associations with common and rare age-related macular degeneration (AMD) risk variants, to calculate an overall genetic risk score (GRS), and to identify potential misdiagnoses with inherited macular dystr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2607::f4fad8b879e840ae735be49bbb227579
https://pure.qub.ac.uk/en/publications/development-of-a-genotype-assay-for-agerelated-macular-degeneration-the-eyerisk-consortium(07e4ac17-e596-4d92-b337-93246941cb7a).html

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Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.

Autor: Cipriani, Valentina, Lorés-Motta, Laura, He, Fan, Fathalla, Dina, Tilakaratna, Viranga, McHarg, Selina, Bayatti, Nadhim, Acar, İlhan E., Hoyng, Carel B., Fauser, Sascha, Moore, Anthony T., Yates, John R. W., de Jong, Eiko K., Morgan, B. Paul, den Hollander, Anneke I., Bishop, Paul N., Clark, Simon J.

Publikováno v: Nature Communications; 2/7/2020, Vol. 11 Issue 1, p1-15, 15p

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