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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: kestelyn p. 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: kestelyn p. 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.
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. AlMoallem B, et al. Among authors: kestelyn p. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. Invest Ophthalmol Vis Sci. 2015. PMID: 25678693
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: kestelyn p. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. Invest Ophthalmol Vis Sci. 2011. PMID: 20881294
Alport syndrome and conjunctival telangiectasia.
Decock C, De Laey JJ, Leroy BP, Kestelyn PH. Decock C, et al. Among authors: kestelyn ph. Bull Soc Belge Ophtalmol. 2003;(290):29-31. Bull Soc Belge Ophtalmol. 2003. PMID: 14750228
Indocyanine green angiography in a case of Bietti's disease.
Salati C, Lafaut BA, Stevens A, De Laey JJ, Kestelyn P. Salati C, et al. Among authors: kestelyn p. Retina. 1998;18(1):82-4. doi: 10.1097/00006982-199801000-00019. Retina. 1998. PMID: 9502291 No abstract available.
Birdshot-like chorioretinopathy in common variable immunodeficiency.
de Maeyer V, Leroy BP, Kerre T, Ferdinande L, Haerynck F, De Baets F, Kestelyn P. de Maeyer V, et al. Among authors: kestelyn p. Retin Cases Brief Rep. 2012 Fall;6(4):358-64. doi: 10.1097/ICB.0b013e31824f71c8. Retin Cases Brief Rep. 2012. PMID: 25389930
117 results