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[From gene to disease; Leber congenital amaurosis (LCA)].
Yzer S, van den Born LI, Cremers FP, den Hollander AI. Yzer S, et al. Among authors: den hollander ai, van den born li. Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7. Ned Tijdschr Geneeskd. 2005. PMID: 16261712 Review. Dutch.
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Runhart EH, Dhooge P, Meester-Smoor M, Pas J, Pott JWR, van Leeuwen R, Kroes HY, Bergen AA, de Jong-Hesse Y, Thiadens AA, van Schooneveld MJ, van Genderen M, Boon C, Klaver C, van den Born LI, Cremers FPM, Hoyng CB. Runhart EH, et al. Among authors: van schooneveld mj, van den born li, van leeuwen r, van genderen m. Acta Ophthalmol. 2022 Jun;100(4):395-402. doi: 10.1111/aos.14996. Epub 2021 Aug 25. Acta Ophthalmol. 2022. PMID: 34431609 Free PMC article.
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. den Hollander AI, et al. Among authors: van schooneveld mj, van den born li, van der velde visser sd. Am J Hum Genet. 2001 Jul;69(1):198-203. doi: 10.1086/321263. Epub 2001 May 24. Am J Hum Genet. 2001. PMID: 11389483 Free PMC article.
138 results