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Page 1
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: de carvalho er, de baere e, de zaeytijd j. 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.
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Among authors: de baere e. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615668 Free PMC article.
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.
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. D'haene B, et al. Among authors: de jaegere s, de paepe a, de ravel t, de faber jt, de baere e. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. Invest Ophthalmol Vis Sci. 2011. PMID: 20881294
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
217 results