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Page 1
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Saksens NT, et al. Among authors: boon cj. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691986 Free PMC article.
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Mukhopadhyay A, et al. Among authors: boon cj. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. doi: 10.1167/iovs.06-0141. Invest Ophthalmol Vis Sci. 2006. PMID: 16877430
Analysis of visual pigment by fundus autofluorescence.
Theelen T, Berendschot TT, Boon CJ, Hoyng CB, Klevering BJ. Theelen T, et al. Among authors: boon cj. Exp Eye Res. 2008 Feb;86(2):296-304. doi: 10.1016/j.exer.2007.10.022. Epub 2007 Nov 12. Exp Eye Res. 2008. PMID: 18096158
Fundus autofluorescence imaging of retinal dystrophies.
Boon CJ, Jeroen Klevering B, Keunen JE, Hoyng CB, Theelen T. Boon CJ, et al. Vision Res. 2008 Nov;48(26):2569-77. doi: 10.1016/j.visres.2008.01.010. Epub 2008 Mar 4. Vision Res. 2008. PMID: 18289629 Free article.
Central areolar choroidal dystrophy.
Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB. Boon CJ, et al. Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. doi: 10.1016/j.ophtha.2008.12.019. Epub 2009 Feb 25. Ophthalmology. 2009. PMID: 19243827
260 results