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2008 1
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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.
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 homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Among authors: riemslag fc. Ophthalmology. 2012 Sep;119(9):1899-906. doi: 10.1016/j.ophtha.2012.02.037. Epub 2012 May 3. Ophthalmology. 2012. PMID: 22559933
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 genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC. Solouki AM, et al. Among authors: riemslag fc. Nat Genet. 2010 Oct;42(10):897-901. doi: 10.1038/ng.663. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835239 Free PMC article.
17 results