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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E. Almoallem B, et al. Among authors: de ravel t, de baere e, de zaeytijd j. Sci Rep. 2020 Jan 28;10(1):1289. doi: 10.1038/s41598-019-57338-2. Sci Rep. 2020. PMID: 31992737 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: de paepe a. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: de paepe a, de baere e. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16. Am J Hum Genet. 2005. PMID: 15962237 Free PMC article.
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Yzer S, et al. Among authors: de faber jt, de ravel tj, de baere e. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76. doi: 10.1167/iovs.05-0848. Invest Ophthalmol Vis Sci. 2006. PMID: 16505055 Free article.
Development of a genotyping microarray for Usher syndrome.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. Among authors: de brouwer ap, de baere e. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 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. Among authors: de baere e. 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.
Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination.
Decock CE, De Baere EE, Bauters W, Shah AD, Delaey C, Forsyth R, Leroy BP, Kestelyn P, Claerhout I. Decock CE, et al. Among authors: de baere ee. Arch Ophthalmol. 2011 Dec;129(12):1564-9. doi: 10.1001/archophthalmol.2011.348. Arch Ophthalmol. 2011. PMID: 22159675
Non-coding variation in disorders of sex development.
Baetens D, Mendonça BB, Verdin H, Cools M, De Baere E. Baetens D, et al. Among authors: de baere e. Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. Clin Genet. 2017. PMID: 27801941 Review.
216 results