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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Coppieters F, et al. Among authors: de jaegere s, de ravel t, de baere e. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. Hum Mutat. 2010. PMID: 20683928 Free PMC article.
IQCB1 mutations in patients with leber congenital amaurosis.
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. Estrada-Cuzcano A, et al. Among authors: de baere eb. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. Invest Ophthalmol Vis Sci. 2011. PMID: 20881296
Discordance for retinitis pigmentosa in two monozygotic twin pairs.
Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia O Jr, Takahashi WY, Lissens W, de Baere E, Leroy BP. Berghmans LV, et al. Among authors: de mendonca rh, de baere e, de oliveira maia o jr. Retina. 2011 Jun;31(6):1164-9. doi: 10.1097/IAE.0b013e3181fbcf2b. Retina. 2011. PMID: 21283054
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Coppieters F, et al. Among authors: de rocker n, de wilde b, de meester e, de baere e. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261762 Free article.
215 results