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Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. van Genderen MM, et al. Among authors: riemslag fc. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896109 Free PMC article.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium; Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. Kohl S, et al. Among authors: riemslag fc. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901948 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: riemslag fc. 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
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.
Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI. Littink KW, et al. Among authors: riemslag fcc. Genes (Basel). 2018 Jan 30;9(2):68. doi: 10.3390/genes9020068. Genes (Basel). 2018. PMID: 29385733 Free PMC article.
45 results