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Page 1
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: den hollander ai. 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.
The expanding roles of ABCA4 and CRB1 in inherited blindness.
Cremers FP, Maugeri A, den Hollander AI, Hoyng CB. Cremers FP, et al. Among authors: den hollander ai. Novartis Found Symp. 2004;255:68-79; discussion 79-84, 177-8. doi: 10.1002/0470092645.ch6. Novartis Found Symp. 2004. PMID: 14750597
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ. Boon CJ, et al. Among authors: den hollander ai. Br J Ophthalmol. 2007 Nov;91(11):1504-11. doi: 10.1136/bjo.2007.115659. Epub 2007 May 15. Br J Ophthalmol. 2007. PMID: 17504850 Free PMC article.
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB. Boon CJ, et al. Among authors: den hollander ai. Arch Ophthalmol. 2007 Aug;125(8):1100-6. doi: 10.1001/archopht.125.8.1100. Arch Ophthalmol. 2007. PMID: 17698758
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Boon CJ, et al. Among authors: den hollander ai. Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007. Am J Hum Genet. 2008. PMID: 18252232 Free PMC article.
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Among authors: den hollander ai. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074807
295 results