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The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: boon cjf. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free 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. 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. 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.
Reflux after intravitreal injection of bevacizumab.
Boon CJ, Crama N, Klevering BJ, van Kuijk FJ, Hoyng CB. Boon CJ, et al. Ophthalmology. 2008 Jul;115(7):1270; author reply 1271. doi: 10.1016/j.ophtha.2008.02.021. Ophthalmology. 2008. PMID: 18598829 No abstract available.
256 results