Leroy BP - Search Results

1

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

2

Ophthalmological signs of tuberous sclerosis.

Leroy BP, Carton D, De Laey JJ. Leroy BP, et al. Bull Soc Belge Ophtalmol. 1996;262:115-21. Bull Soc Belge Ophtalmol. 1996. PMID: 9339039

3

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: leroy bp. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001. Mol Genet Metab. 2000. PMID: 10873396

4

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.

Khaliq S, Hameed A, Ismail M, Anwar K, Leroy BP, Mehdi SQ, Payne AM, Bhattacharya SS. Khaliq S, et al. Among authors: leroy bp. Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3709-12. Invest Ophthalmol Vis Sci. 2000. PMID: 11053266

5

RP1 protein truncating mutations predominate at the RP1 adRP locus.

Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS. Payne A, et al. Among authors: leroy bp. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73. Invest Ophthalmol Vis Sci. 2000. PMID: 11095597

6

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS. Leroy BP, et al. Exp Eye Res. 2001 May;72(5):503-9. doi: 10.1006/exer.2000.0978. Exp Eye Res. 2001. PMID: 11311042

7

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Lafaut BA, Loeys B, Leroy BP, Spileers W, De Laey JJ, Kestelyn P. Lafaut BA, et al. Among authors: leroy bp. Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82. doi: 10.1007/s004170100318. Graefes Arch Clin Exp Ophthalmol. 2001. PMID: 11585313

8

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.

9

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M. Blaydon DC, et al. Among authors: leroy bp. Clin Genet. 2003 Apr;63(4):303-7. doi: 10.1034/j.1399-0004.2003.00058.x. Clin Genet. 2003. PMID: 12702164

10

Alport syndrome and conjunctival telangiectasia.

Decock C, De Laey JJ, Leroy BP, Kestelyn PH. Decock C, et al. Among authors: leroy bp. Bull Soc Belge Ophtalmol. 2003;(290):29-31. Bull Soc Belge Ophtalmol. 2003. PMID: 14750228

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