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Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB. Roosing S, et al. Among authors: den hollander ai. Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13. Ophthalmology. 2015. PMID: 25227500
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521
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. 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.
Molecular genetics of Leber congenital amaurosis.
Cremers FP, van den Hurk JA, den Hollander AI. Cremers FP, et al. Among authors: den hollander ai. Hum Mol Genet. 2002 May 15;11(10):1169-76. doi: 10.1093/hmg/11.10.1169. Hum Mol Genet. 2002. PMID: 12015276 Review.
294 results