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Page 1
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. Littink KW, et al. Among authors: pott jw. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3. Invest Ophthalmol Vis Sci. 2010. PMID: 20130272
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Among authors: pott jw. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI. Van Schil K, et al. Among authors: pott jw. Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7418-26. doi: 10.1167/iovs.15-17920. Invest Ophthalmol Vis Sci. 2015. PMID: 26574802
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. Buena-Atienza E, et al. Among authors: pott jw. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. Sci Rep. 2016. PMID: 27339364 Free PMC article.
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Runhart EH, Dhooge P, Meester-Smoor M, Pas J, Pott JWR, van Leeuwen R, Kroes HY, Bergen AA, de Jong-Hesse Y, Thiadens AA, van Schooneveld MJ, van Genderen M, Boon C, Klaver C, van den Born LI, Cremers FPM, Hoyng CB. Runhart EH, et al. Acta Ophthalmol. 2022 Jun;100(4):395-402. doi: 10.1111/aos.14996. Epub 2021 Aug 25. Acta Ophthalmol. 2022. PMID: 34431609 Free PMC article.
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM. Heutinck PAT, et al. Among authors: pott jwr. Invest Ophthalmol Vis Sci. 2024 Aug 1;65(10):40. doi: 10.1167/iovs.65.10.40. Invest Ophthalmol Vis Sci. 2024. PMID: 39189993 Free PMC article.
56 results