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Page 1
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.
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
van Huet RA, Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ. van Huet RA, et al. Among authors: riemslag fc. Acta Ophthalmol. 2015 Feb;93(1):83-94. doi: 10.1111/aos.12500. Epub 2014 Nov 11. Acta Ophthalmol. 2015. PMID: 25385675 Free article.
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Roosing S, et al. Among authors: riemslag fc. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. Ophthalmology. 2013. PMID: 23499059
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.
17 results