1 - 25 of 28 results for author:"Leroy B.P." in Literature citations
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| BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Estrada-Cuzcano A., Koenekoop R.K., Senechal A., De Baere E.B., de Ravel T., Banfi S., Kohl S., Ayuso C., Sharon D., Hoyng C.B. et al. Arch. Ophthalmol. 130:1425-1432(2012) · Mapped (8) |
| Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Audo I., Bujakowska K., Orhan E., Poloschek C.M., Defoort-Dhellemmes S., Drumare I., Kohl S., Luu T.D., Lecompte O., Zrenner E. et al. Am. J. Hum. Genet. 90:321-330(2012) · UniProtKB (1) |
| Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Wissinger B., Schaich S., Baumann B., Bonin M., Jagle H., Friedburg C., Varsanyi B., Hoyng C.B., Dollfus H., Heckenlively J.R. et al. Hum. Mutat. 32:1398-1406(2011) · Mapped (2) |
| The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Thomas M.G., Crosier M., Lindsay S., Kumar A., Thomas S., Araki M., Talbot C.J., McLean R.J., Surendran M., Taylor K. et al. Brain 134:892-902(2011) · Mapped (1) |
| 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 H.Y., Plomp A., Arens Y.H., de Ravel T., Casteels I., De Jaegere S., Hooghe S. et al. Invest. Ophthalmol. Vis. Sci. 52:324-333(2011) · Mapped (7) |
| CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Coppieters F., Lefever S., Leroy B.P., De Baere E. Hum. Mutat. 31:1097-1108(2010) · Mapped (4) |
| 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. et al. Hum. Mutat. 31:E1709-E1766(2010) · UniProtKB (2) · Mapped (10) |
| A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. Mukhopadhyay R., Sergouniotis P.I., Mackay D.S., Day A.C., Wright G., Devery S., Leroy B.P., Robson A.G., Holder G.E., Li Z. et al. Mol. Vis. 16:540-548(2010) · Mapped (4) |
| Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert K.P., Vereecke I., Dewinter C., Rosenberg T., Beemer F.A., Leroy J.G., Bendix L., Bjorck E., Bonduelle M., Boute O. et al. Eur. J. Hum. Genet. 18:872-880(2010) · Mapped (4) |
| TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M. et al. Am. J. Hum. Genet. 85:720-729(2009) · UniProtKB (1) · Mapped (9) |
| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Thiadens A.A., den Hollander A.I., Roosing S., Nabuurs S.B., Zekveld-Vroon R.C., Collin R.W., De Baere E., Koenekoop R.K., van Schooneveld M.J., Strom T.M. et al. Am. J. Hum. Genet. 85:240-247(2009) · UniProtKB (1) |
| The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Boon C.J., Klevering B.J., Leroy B.P., Hoyng C.B., Keunen J.E., den Hollander A.I. Prog Retin Eye Res 28:187-205(2009) · Mapped (9) |
| Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome. Beysen D., De Jaegere S., Amor D., Bouchard P., Christin-Maitre S., Fellous M., Touraine P., Grix A.W., Hennekam R., Meire F. et al. |
| A common NYX mutation in Flemish patients with X linked CSNB. Leroy B.P., Budde B.S., Wittmer M., De Baere E., Berger W., Zeitz C. Br J Ophthalmol 93:692-696(2009) · Mapped (1) |
| Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Beysen D., Moumne L., Veitia R., Peters H., Leroy B.P., De Paepe A., De Baere E. Hum. Mol. Genet. 17:2030-2038(2008) · UniProtKB (1) · Mapped (5) |
| Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Burgess R., Millar I.D., Leroy B.P., Urquhart J.E., Fearon I.M., De Baere E., Brown P.D., Robson A.G., Wright G.A., Kestelyn P. et al. Am. J. Hum. Genet. 82:19-31(2008) · UniProtKB (1) · Mapped (8) |
| Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Audo I., Vanakker O.M., Smith A., Leroy B.P., Robson A.G., Jenkins S.A., Coucke P.J., Bird A.C., De Paepe A., Holder G.E. et al. Invest. Ophthalmol. Vis. Sci. 48:4250-4256(2007) · Mapped (6) |
| Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Coppieters F., Leroy B.P., Beysen D., Hellemans J., De Bosscher K., Haegeman G., Robberecht K., Wuyts W., Coucke P.J., De Baere E. Am. J. Hum. Genet. 81:147-157(2007) · UniProtKB (1) · Mapped (4) |
| Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. Vanakker O.M., Martin L., Gheduzzi D., Leroy B.P., Loeys B.L., Guerci V.I., Matthys D., Terry S.F., Coucke P.J., Pasquali-Ronchetti I. et al. J. Invest. Dermatol. 127:581-587(2007) · UniProtKB (1) |
| Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Yzer S., Leroy B.P., De Baere E., de Ravel T.J., Zonneveld M.N., Voesenek K., Kellner U., Ciriano J.P., de Faber J.T., Rohrschneider K. et al. Invest. Ophthalmol. Vis. Sci. 47:1167-1176(2006) · Mapped (1) |
| 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 B.P., Lucassen A., Yates J.R., Clayton-Smith J., Ilyina H., Brooks S.S., Christin-Maitre S., Fellous M. et al. Am. J. Hum. Genet. 77:205-218(2005) · Mapped (6) |
| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Yardley J., Leroy B.P., Hart-Holden N., Lafaut B.A., Loeys B., Messiaen L.M., Perveen R., Reddy M.A., Bhattacharya S.S., Traboulsi E. et al. Invest. Ophthalmol. Vis. Sci. 45:3683-3689(2004) · UniProtKB (1) · Mapped (8) |
| The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Dharmaraj S., Leroy B.P., Sohocki M.M., Koenekoop R.K., Perrault I., Anwar K., Khaliq S., Devi R.S., Birch D.G., De Pool E. et al. Arch. Ophthalmol. 122:1029-1037(2004) · Mapped (11) |
| 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.J., Fellous M., Fryns J.-P. et al. Am. J. Hum. Genet. 72:478-487(2003) · UniProtKB (1) · Mapped (5) |
| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype --phenotype correlation. De Baere E., Dixon M.J., Small K.W., Jabs E.W., Leroy B.P., Devriendt K., Gillerot Y., Mortier G., Meire F., Van Maldergem L. et al. Hum. Mol. Genet. 10:1591-1600(2001) · UniProtKB (1) |