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    Results: 1 to 50 of 52

    1.

    TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

    Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

    Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 [PubMed - in process]Related articles

    2.

    Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

    Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J.

    Lancet. 2009 Nov 7;374(9701):1597-605. Epub 2009 Oct 23.PMID: 19854499 [PubMed - in process]Related articles

    3.

    Added Value of Infrared, Red-free and Autofluorescence Fundus Imaging in Pseudoxanthoma Elasticum.

    De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP.

    Br J Ophthalmol. 2009 Sep 24. [Epub ahead of print]PMID: 19726431 [PubMed - as supplied by publisher]Related articles

    4.

    Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

    Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

    Am J Hum Genet. 2009 Aug;85(2):240-7. Epub 2009 Jul 16.PMID: 19615668 [PubMed - indexed for MEDLINE]Related articles

    5.

    Genotyping microarray for CSNB-associated genes.

    Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.

    Invest Ophthalmol Vis Sci. 2009 Jul 2. [Epub ahead of print]PMID: 19578023 [PubMed - as supplied by publisher]Related articles

    6.

    The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

    Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI.

    Prog Retin Eye Res. 2009 May;28(3):187-205. Epub 2009 Apr 16. Review.PMID: 19375515 [PubMed - indexed for MEDLINE]Related articles

    7.

    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 AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E.

    Hum Mutat. 2008 Nov;29(11):E205-19.PMID: 18642388 [PubMed - indexed for MEDLINE]Related articles

    8.

    A common NYX mutation in Flemish patients with X linked CSNB.

    Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C.

    Br J Ophthalmol. 2009 May;93(5):692-6. Epub 2008 Jul 10.PMID: 18617546 [PubMed - indexed for MEDLINE]Related articles

    9.

    Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

    Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E.

    Hum Mol Genet. 2008 Jul 1;17(13):2030-8. Epub 2008 Mar 27.PMID: 18372316 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    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.

    Am J Hum Genet. 2008 Jan;82(1):19-31.PMID: 18179881 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

    Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A.

    Hum Mutat. 2008 Jan;29(1):205.PMID: 18157818 [PubMed - indexed for MEDLINE]Related articles

    12.

    Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

    Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR.

    Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6.PMID: 17724214 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Cancer-associated retinopathy (CAR) with electronegative ERG: a case report.

    Goetgebuer G, Kestelyn-Stevens AM, De Laey JJ, Kestelyn P, Leroy BP.

    Doc Ophthalmol. 2008 Jan;116(1):49-55. Epub 2007 Aug 25.PMID: 17721792 [PubMed - indexed for MEDLINE]Related articles

    14.

    Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

    Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E.

    Am J Hum Genet. 2007 Jul;81(1):147-57. Epub 2007 May 24.PMID: 17564971 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    High beta-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos.

    Decock CE, Breusegem CM, Van Aken EH, Leroy BP, Van Den Broecke CM, Delanghe JR.

    Br J Ophthalmol. 2007 Jun;91(6):836. No abstract available. PMID: 17510479 [PubMed - indexed for MEDLINE]Related articles

    16.

    Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

    Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A.

    J Invest Dermatol. 2007 Mar;127(3):581-7. Epub 2006 Nov 16.PMID: 17110937 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Two cases of acute macular neuroretinopathy.

    Corver HD, Ruys J, Kestelyn-Stevens AM, De Laey JJ, Leroy BP.

    Eye (Lond). 2007 Sep;21(9):1226-9. Epub 2006 Sep 15.PMID: 16980933 [PubMed - indexed for MEDLINE]Related articles

    18.

    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.

    J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.PMID: 16963483 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

    Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD.

    Br J Ophthalmol. 2007 Jan;91(1):89-93. Epub 2006 Aug 17.PMID: 16916875 [PubMed - indexed for MEDLINE]Related articles

    20.

    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.

    Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76.PMID: 16505055 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers.

    Vanakker OM, Voet D, Petrovic M, van Robaeys F, Leroy BP, Coucke P, de Paepe A.

    Br J Radiol. 2006 Mar;79(939):221-5.PMID: 16498034 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    Myopia: more than a refractive error--LASIK and retinal dystrophies.

    Walraedt S, Leroy BP, Kestelyn PH, De Laey JJ.

    Bull Soc Belge Ophtalmol. 2005;(298):31-8.PMID: 16422219 [PubMed - indexed for MEDLINE]Related articles

    23.

    Retinal vessel dilation following repletion of vitamin A deficiency.

    Larsen M, Pedersen R, Taarnhøj NC, Spits Y, Munch IC, Leroy BP, Klemp K.

    Exp Eye Res. 2006 Feb;82(2):349-50. Epub 2005 Dec 20.PMID: 16364295 [PubMed - indexed for MEDLINE]Related articles

    24.

    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.

    Am J Hum Genet. 2005 Aug;77(2):205-18. Epub 2005 Jun 16.PMID: 15962237 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Efficacy and safety of telithromycin 800 mg once daily for 7 days in community-acquired pneumonia: an open-label, multicenter study.

    Fogarty CM, Patel TC, Dunbar LM, Leroy BP.

    BMC Infect Dis. 2005 May 31;5(1):43.PMID: 15927060 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    Reversible visual deficit and Corpus callosum lesions due to metronidazole toxicity.

    De Bleecker JL, Leroy BP, Meire VI.

    Eur Neurol. 2005;53(2):93-5. Epub 2005 Apr 26. No abstract available. PMID: 15855780 [PubMed - indexed for MEDLINE]Related articles

    27.

    Progressive cone dystrophy and sensorineural hearing loss.

    Witters JA, De Zaeytijd J, Leys M, Leroy BP.

    Bull Soc Belge Ophtalmol. 2004;(294):35-42.PMID: 15682917 [PubMed - indexed for MEDLINE]Related articles

    28.

    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.

    Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.PMID: 15452077 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

    Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.

    Arch Ophthalmol. 2004 Jul;122(7):1029-37.PMID: 15249368 [PubMed - indexed for MEDLINE]Related articlesFree article

    30.

    Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy.

    Spits Y, De Laey JJ, Leroy BP.

    Br J Ophthalmol. 2004 Apr;88(4):583-5. Review. No abstract available. PMID: 15031184 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.

    Leroy JG, Leroy BP, Emmery LV, Messiaen L, Spranger JW.

    Am J Med Genet A. 2004 Feb 15;125A(1):49-56.PMID: 14755466 [PubMed - indexed for MEDLINE]Related articles

    32.

    Alport syndrome and conjunctival telangiectasia.

    Decock C, De Laey JJ, Leroy BP, Kestelyn PH.

    Bull Soc Belge Ophtalmol. 2003;(290):29-31.PMID: 14750228 [PubMed - indexed for MEDLINE]Related articles

    33.

    Clinical features & retinal function in patients with adult Refsum syndrome.

    Leroy BP, Hogg CR, Rath PR, McBain V, Kestelyn P, Bird AC, Holder GE.

    Adv Exp Med Biol. 2003;544:57-8. No abstract available. PMID: 14713212 [PubMed - indexed for MEDLINE]Related articles

    34.

    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.

    Clin Genet. 2003 Apr;63(4):303-7.PMID: 12702164 [PubMed - indexed for MEDLINE]Related articles

    35.

    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.

    Am J Hum Genet. 2003 Feb;72(2):478-87. Epub 2003 Jan 14.PMID: 12529855 [PubMed - indexed for MEDLINE]Related articlesFree article

    36.

    Mesopic visual acuity requirements for driving licenses in the European Union-Research Report.

    Uvijls A, Baets R, Leroy BP, Kestelyn P.

    Bull Soc Belge Ophtalmol. 2001;(282):71-7.PMID: 12455142 [PubMed - indexed for MEDLINE]Related articles

    37.

    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.

    Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82.PMID: 11585313 [PubMed - indexed for MEDLINE]Related articles

    38.

    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.

    Hum Mol Genet. 2001 Jul 15;10(15):1591-600.PMID: 11468277 [PubMed - indexed for MEDLINE]Related articlesFree article

    39.

    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.

    Exp Eye Res. 2001 May;72(5):503-9.PMID: 11311042 [PubMed - indexed for MEDLINE]Related articles

    40.

    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.

    Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73.PMID: 11095597 [PubMed - indexed for MEDLINE]Related articlesFree article

    41.

    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.

    Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3709-12.PMID: 11053266 [PubMed - indexed for MEDLINE]Related articlesFree article

    42.

    Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

    Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS.

    Am J Hum Genet. 2000 Nov;67(5):1129-35. Epub 2000 Sep 27.PMID: 11007653 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    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.

    Mol Genet Metab. 2000 Jun;70(2):142-50.PMID: 10873396 [PubMed - indexed for MEDLINE]Related articles

    44.

    A large field Panel D-15 test for low vision patients.

    Uvijls A, Leroy BP, Leys M, De Rouck A, Kestelyn P.

    Bull Soc Belge Ophtalmol. 1998;270:57-65.PMID: 9919782 [PubMed - indexed for MEDLINE]Related articles

    45.

    Ophthalmological signs of tuberous sclerosis.

    Leroy BP, Carton D, De Laey JJ.

    Bull Soc Belge Ophtalmol. 1996;262:115-21.PMID: 9339039 [PubMed - indexed for MEDLINE]Related articles

    46.

    Refined genetic and physical mapping of BPES type II.

    Messiaen L, Leroy BP, De Bie S, De Pauw K, Van Roy N, Speleman F, Van Camp G, De Paepe A.

    Eur J Hum Genet. 1996;4(1):34-8.PMID: 8800926 [PubMed - indexed for MEDLINE]Related articles

    47.

    Allergen-sensitive atopic dermatitis is improved by injections of allergen combined with F(ab')2 fragments of specific antibodies.

    Leroy BP, Jacquemin MG, Lachapelle JM, Saint-Remy JM.

    Br J Dermatol. 1995 Apr;132(4):599-603.PMID: 7748752 [PubMed - indexed for MEDLINE]Related articles

    48.

    A novel therapy for atopic dermatitis with allergen-antibody complexes: a double-blind, placebo-controlled study.

    Leroy BP, Boden G, Lachapelle JM, Jacquemin MG, Saint-Remy JM.

    J Am Acad Dermatol. 1993 Feb;28(2 Pt 1):232-9.PMID: 8432921 [PubMed - indexed for MEDLINE]Related articles

    49.

    Treatment of atopic dermatitis by allergen-antibody complexes: long-term clinical results and evolution of IgE antibodies.

    Leroy BP, Lachapelle JM, Jacquemin M, Saint-Remy JM.

    Dermatology. 1992;184(4):271-4.PMID: 1498393 [PubMed - indexed for MEDLINE]Related articles

    50.

    Allergen-antibody complexes in the treatment of atopic dermatitis: preliminary results of a double-blind placebo-controlled study.

    Leroy BP, Boden G, Jacquemin MG, Lachapelle JM, Saint-Remy JM.

    Acta Derm Venereol Suppl (Stockh). 1992;176:129-31.PMID: 1476025 [PubMed - indexed for MEDLINE]Related articles

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