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Page 1
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL, van Dijk EHC, Breukink MB, Keunen JEE, Santen GWE, Hoyng CB, de Jong EK, Boon CJF, den Hollander AI. Schellevis RL, et al. Among authors: boon cjf. Mol Genet Genomic Med. 2019 Apr;7(4):e00576. doi: 10.1002/mgg3.576. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30724488 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. 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.
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
257 results