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New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium; De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. Poulter JA, et al. Among authors: leroy bp. Hum Mutat. 2021 Feb;42(2):164-176. doi: 10.1002/humu.24140. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33252155 Free PMC article.
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: leroy bp. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. De Baere E, et al. Among authors: leroy bp. Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529855 Free PMC article.
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: leroy bp. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Burgess R, et al. Among authors: leroy bp. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Am J Hum Genet. 2008. PMID: 18179881 Free PMC article.
A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. Leroy BP, et al. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10. Br J Ophthalmol. 2009. PMID: 18617546 Free article.
206 results