FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Bart Leroy

Research Profile

Procedures

Physiology

Concepts & Ideas

Chemicals & Drugs

Disorders

Living Beings

Heterozygote

Co-author Network

Publications

TOP 3
Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Ivan Cima; Frauke Coppieters; Elfride De Baere; Bart P Leroy; Maja Sustar; Jelka Brecelj; Marko Hawlina
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
Frauke Coppieters; Ellen De Meester; Nina De Rocker; Bram De Wilde; Jan Hellemans; Steve Lefever; Bart P Leroy; Françoise Meire; Filip Pattyn; Caroline Van Cauwenbergh; Jo Vandesompele; Elfride De Baere
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Bart Leroy (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology 2012;130(11):1425-32.
2012: Ivan Cima; Frauke Coppieters; Elfride De Baere; Bart P Leroy; Maja Sustar; Jelka Brecelj; Marko Hawlina
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
Documenta ophthalmologica. Advances in ophthalmology 2012;125(2):161-8.
2012: Frauke Coppieters; Ellen De Meester; Nina De Rocker; Bram De Wilde; Jan Hellemans; Steve Lefever; Bart P Leroy; Françoise Meire; Filip Pattyn; Caroline Van Cauwenbergh; Jo Vandesompele; Elfride De Baere
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(6):576-85.
2012: Simon Ramsden; Andrew R Webster; Anthony T Moore; Graeme C M Black; Alice E Davidson; Bart P Leroy; Forbes D C Manson
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
European journal of human genetics : EJHG 2012;20(5):.
2012: Elise Platteau; Koen Moens; Kristien Hoornaert; Bart P Leroy
Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS).
Acta ophthalmologica 2012;90(3):e239-40.
2012: Alberta A H J Thiadens; L Ingeborgh Van Den Born; Maria M van Genderen; Norka van Moll-Ramirez; Mary J van Schooneveld; Renate C Zekveld-Vroon; T My Lan Phan; Jan Willem R Pott; Susanne Roosing; Arthur A B Bergen; Camiel J F Boon; Frans P M Cremers; Elfride De Baere; Anneke I den Hollander; Carel B Hoyng; Caroline C W Klaver; Bart P Leroy; Andrew J Lotery
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012;119(4):819-26.
2011: Bernd Wissinger; Christiane Wolf; Ditta Zobor; Eberhart Zrenner; Monika Andrassi-Darida; Britta Baumann; Antje Bernd; Michael Bonin; Frans P M Cremers; Elfride De Baere; Hélène Dollfus; Enyedi Peter; Christoph Friedburg; John R Heckenlively; Carel B Hoyng; Herbert Jägle; Ulrich Kellner; Bart P Leroy; Birgit Lorenz; Astrid Plomp; Thomas Rosenberg; Günter Rudolph; Roberto Salati; Alexandra Sauer; Simone Schaich; Balázs Varsányi; Susanne Kohl
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Human mutation 2011;32(12):1398-406.
2011: Olivier M Vanakker; Cees Vermeer; Paul J Coucke; Bart P Leroy; Leon J Schurgers; Anne De Paepe
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
American journal of medical genetics. Part A 2011;155A(11):2855-9.
2011: Chr Decock; Philippe Kesteleyn; Bart P Leroy; Akash D Shah; Ilse Claerhout; Elfride De Baere
Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome.
Ophthalmic plastic and reconstructive surgery 2011;27(5):368-70.
2011: Arundhati Dev Borman; Alice E Davidson; Elfride De Baere; Graham Holder; Bart P Leroy; Forbes D C Manson; James O'Sullivan; Anthony G Robson; Dorothy A Thompson; Andrew R Webster; Graeme C M Black; Anthony T Moore
Childhood-onset autosomal recessive bestrophinopathy.
Archives of ophthalmology 2011;129(8):1088-93.
2011: Lieve V Berghmans; Frauke Coppieters; Elfride De Baere; Regina Halfeld Furtado de Mendonça; Willy Lissens; Walter Yukihiko Takahashi; Otacílio de Oliveira Maia; Bart P Leroy
Discordance for retinitis pigmentosa in two monozygotic twin pairs.
Retina (Philadelphia, Pa.) 2011;31(6):1164-9.
2011: Barbara D'haene; Françoise Meire; Ilse Claerhout; Hester Y Kroes; Astrid Plomp; Yvonne H Arens; Thomy de Ravel; Ingele Casteels; Sarah De Jaegere; Sally Hooghe; Wim Wuyts; Jenneke van den Ende; Françoise Roulez; Hermine E Veenstra-Knol; Rogier A Oldenburg; Jacques Giltay; Johanna B G M Verheij; Jan-Tjeerd de Faber; Björn Menten; Anne De Paepe; Philippe Kestelyn; Bart P Leroy; Elfride De Baere
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
Investigative ophthalmology & visual science 2011;52(1):324-33.
2010: Kirsten Robberecht; Christian Decock; Annemie Stevens; Sara Seneca; Jan De Bleecker; Bart P Leroy
Ptosis as an associated finding in maternally inherited diabetes and deafness.
Ophthalmic genetics 2010;31(4):240-3.
2010: Frauke Coppieters; Steve Lefever; Bart P Leroy; Elfride De Baere
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Human mutation 2010;31(10):1097-108.
2010: Frauke Coppieters; Ingele Casteels; Françoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole Van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valérie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; H Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Human mutation 2010;31(10):E1709-66.
2010: Julie De Zaeytijd; Olivier M Vanakker; Paul J Coucke; Anne De Paepe; Jean-Jacques De Laey; Bart P Leroy
Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.
The British journal of ophthalmology 2010;94(4):479-86.
2009: Camiel J F Boon; B Jeroen Klevering; Bart P Leroy; Carel B Hoyng; Jan E E Keunen; Anneke I den Hollander
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Progress in retinal and eye research 2009;28(3):187-205.
2009: Bart P Leroy; B S Budde; M Wittmer; Elfride De Baere; W Berger; C Zeitz
A common NYX mutation in Flemish patients with X linked CSNB.
The British journal of ophthalmology 2009;93(5):692-6.
2008: Diane Beysen; Lara Moumné; Reiner A Veitia; Hartmut Peters; Bart P Leroy; Anne De Paepe; Elfride De Baere
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
Human molecular genetics 2008;17(13):2030-8.
2008: Rosemary Burgess; Ian D Millar; Bart P Leroy; Jill E Urquhart; Ian M Fearon; Elfride De Baere; Peter D Brown; Anthony G Robson; Genevieve A Wright; Philippe Kestelyn; Graham Holder; Andrew R Webster; Forbes D C Manson; Graeme C M Black
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
American journal of human genetics 2008;82(1):19-31.
2008: Olivier M Vanakker; Bart P Leroy; Paul Coucke; Lionel Bercovitch; Jouni Uitto; Dennis Viljoen; Sharon F Terry; Petra Van Acker; Dirk Matthys; Bart Loeys; Anne De Paepe
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Human mutation 2008;29(1):205.
2008: Griet Goetgebuer; Anna-Maria Kestelyn-Stevens; Jean-Jacques De Laey; Philippe Kestelyn; Bart P Leroy
Cancer-associated retinopathy (CAR) with electronegative ERG: a case report.
Documenta ophthalmologica. Advances in ophthalmology 2008;116(1):49-55.
2007: Isabelle Audo; Olivier M Vanakker; Alaric Smith; Bart P Leroy; Anthony G Robson; Sharon A Jenkins; Paul J Coucke; Alan C Bird; Anne De Paepe; Graham Holder; Andrew R Webster
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Investigative ophthalmology & visual science 2007;48(9):4250-6.
2007: H D Corver; J Ruys; A-M Kestelyn-Stevens; Jean-Jacques De Laey; Bart P Leroy
Two cases of acute macular neuroretinopathy.
Eye (London, England) 2007;21(9):1226-9.
2007: Frauke Coppieters; Bart P Leroy; Diane Beysen; Jan Hellemans; Karolien De Bosscher; Guy Haegeman; Kirsten Robberecht; Wim Wuyts; Paul J Coucke; Elfride De Baere
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
American journal of human genetics 2007;81(1):147-57.
2007: Olivier M Vanakker; Ludovic Martin; Dealba Gheduzzi; Bart P Leroy; Bart Loeys; Veronica I Guerci; Dirk Matthys; Sharon F Terry; Paul J Coucke; Ivonne Pasquali-Ronchetti; Anne De Paepe
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
The Journal of investigative dermatology 2007;127(3):581-7.
2007: Frans P M Cremers; William J Kimberling; Maigi Külm; Arjan de Brouwer; Erwin van Wijk; Heleen te Brinke; Cor W R J Cremers; Lies Hoefsloot; Sandro Banfi; Francesca Simonelli; Johannes C Fleischhauer; Wolfgang Berger; Philip M Kelley; Elene Haralambous; Maria Bitner-Glindzicz; Andrew R Webster; Zubin Saihan; Elfride De Baere; Bart P Leroy; Giuliana Silvestri; Gareth J McKay; Robert K Koenekoop; Jose M Millan; Thomas Rosenberg; Tarja Joensuu; Eeva-Marja Sankila; Dominique Weil; Michael D Weston; Bernd Wissinger; Hannie Kremer
Development of a genotyping microarray for Usher syndrome.
Journal of medical genetics 2007;44(2):153-60.
2007: Bart P Leroy; A Kailasanathan; Jean-Jacques De Laey; Graeme C M Black; Forbes D C Manson
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
The British journal of ophthalmology 2007;91(1):89-93.
2006: Suzanne Yzer; Bart P Leroy; Elfride De Baere; Thomy J de Ravel; Marijke N Zonneveld; Krysta Voesenek; Ulrich Kellner; Jose P Martinez Ciriano; Jan-Tjeerd H N de Faber; Klaus Rohrschneider; Ronald Roepman; Anneke I den Hollander; J R M Cruysberg; Françoise Meire; Ingele Casteels; Norka G van Moll-Ramirez; Rando Allikmets; L Ingeborgh Van Den Born; Frans P M Cremers
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(3):1167-76.
2006: Olivier M Vanakker; Dirk Voet; Mirko Petrovic; F van Robaeys; Bart P Leroy; Paul Coucke; Anne De Paepe
Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers.
The British journal of radiology 2006;79(939):221-5.
2006: Michael Larsen; R Pedersen; Nina Charlotte Bille Brahe Taarnhøj; Y Spits; Inger Christine Munch; Bart P Leroy; K Klemp
Retinal vessel dilation following repletion of vitamin A deficiency.
Experimental eye research 2006;82(2):349-50.
2005: Diane Beysen; J Raes; Bart P Leroy; A Lucassen; J R W Yates; J Clayton-Smith; H Ilyina; Susan Sklower Brooks; Sophie Christin-Maitre; Marc Fellous; Jean-Pierre Fryns; J R Kim; P Lapunzina; E Lemyre; Françoise Meire; Ludwine MESSIAEN; Christine Oley; M Splitt; J Thomson; Y Van de Peer; Reiner A Veitia; Anne De Paepe; Elfride De Baere
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
American journal of human genetics 2005;77(2):205-18.
2005: S Walraedt; Bart P Leroy; Philippe Kestelyn; Jean-Jacques De Laey
Myopia: more than a refractive error--LASIK and retinal dystrophies.
Bulletin de la Société belge d'ophtalmologie 2005;(298):31-8.
2005: Jan L De Bleecker; Bart P Leroy; Veronique Meire
Reversible visual deficit and Corpus callosum lesions due to metronidazole toxicity.
European neurology 2005;53(2):93-5.
2004: Jill Yardley; Bart P Leroy; Niki Hart-Holden; Bart A Lafaut; Bart Loeys; Ludwine MESSIAEN; Rahat Perveen; M Ashwin Reddy; Shomi S Bhattacharya; Elias Traboulsi; Diana Baralle; Jean-Jacques De Laey; Bernard Puech; Philippe Kestelyn; Anthony T Moore; Forbes D C Manson; Graeme C M Black
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Investigative ophthalmology & visual science 2004;45(10):3683-9.
2004: Sharola Dharmaraj; Bart P Leroy; Melanie M Sohocki; Robert K Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R Summathi Devi; David G Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Muhammad Ismail; Annette M Payne; Graham Holder; Shomi S Bhattacharya; Alan C Bird; Josseline Kaplan; Irene H Maumenee
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Archives of ophthalmology 2004;122(7):1029-37.
2004: Y Spits; Jean-Jacques De Laey; Bart P Leroy
Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy.
The British journal of ophthalmology 2004;88(4):583-5.
2004: Jules G Leroy; Bart P Leroy; L V Emmery; Ludwine MESSIAEN; J W Spranger
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.
American journal of medical genetics. Part A 2004;125A(1):49-56.
2004: J A Witters; J De Zaeytijd; M Leys; Bart P Leroy
Progressive cone dystrophy and sensorineural hearing loss.
Bulletin de la Société belge d'ophtalmologie 2004;(294):35-42.
2003: Diana Blaydon; Robert F Mueller; Tim Hutchin; Bart P Leroy; S S Bhattacharya; A C Bird; Sue Malcolm; Maria Bitner-Glindzicz
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
Clinical genetics 2003;63(4):303-7.
2003: Elfride De Baere; Diane Beysen; Christine Oley; Birgit Lorenz; Julie Cocquet; Petra De Sutter; koenraad devriendt; Michael Dixon; Marc Fellous; Jean-Pierre Fryns; Arturo Garza; Christoffer Jonsrud; Pasi A Koivisto; Amanda Krause; Bart P Leroy; Françoise Meire; Astrid Plomp; Lionel Van Maldergem; Anne De Paepe; Reiner A Veitia; Ludwine MESSIAEN
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
American journal of human genetics 2003;72(2):478-87.
2003: Chr Decock; Jean-Jacques De Laey; Bart P Leroy; Philippe Kestelyn
Alport syndrome and conjunctival telangiectasia.
Bulletin de la Société belge d'ophtalmologie 2003;(290):29-31.
2003: Bart P Leroy; Chris R Hogg; Pamela R Rath; Vicky McBain; Philippe Kestelyn; Alan C Bird; Graham Holder
Clinical features & retinal function in patients with adult Refsum syndrome.
Advances in experimental medicine and biology 2003;544():57-8.
2001: Bart A Lafaut; Bart Loeys; Bart P Leroy; W Spileers; Jean-Jacques De Laey; Philippe Kestelyn
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2001;239(8):575-82.
2001: Elfride De Baere; M J Dixon; Kent W Small; Ethylin Jabs; Bart P Leroy; koenraad devriendt; Yves Gillerot; Geert R Mortier; Françoise Meire; Lionel Van Maldergem; Winnie Courtens; Helle Hjalgrim; S Huang; I Liebaers; Nicole Van Regemorter; P Touraine; V Praphanphoj; Alain Verloes; Nitin Udar; V Yellore; Meenal Chalukya; Svetlana Yelchits; Anne De Paepe; Frédérique Kuttenn; Marc Fellous; Reiner A Veitia; Ludwine MESSIAEN
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Human molecular genetics 2001;10(15):1591-600.
2001: Bart P Leroy; J A Aragon-Martin; Michael D Weston; David A R Bessant; Catherine Willis; Andrew R Webster; Alan C Bird; William J Kimberling; Annette M Payne; Shomi S Bhattacharya
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
Experimental eye research 2001;72(5):503-9.
2001: A Uvijls; R Baets; Bart P Leroy; Philippe Kestelyn
Mesopic visual acuity requirements for driving licenses in the European Union-Research Report.
Bulletin de la Société belge d'ophtalmologie 2001;(282):71-7.
2000: A Payne; Eranga N Vithana; Shagufta Khaliq; Abdul Hameed; J Deller; Leen Abu-Safieh; S Kermani; Bart P Leroy; S Qasim Mehdi; Anthony T Moore; Alan C Bird; Shomi S Bhattacharya
RP1 protein truncating mutations predominate at the RP1 adRP locus.
Investigative ophthalmology & visual science 2000;41(13):4069-73.
2000: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; Bart P Leroy; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
Investigative ophthalmology & visual science 2000;41(12):3709-12.
2000: Ordan J Lehmann; Neil D Ebenezer; Tim Jordan; M Fox; Louise Ocaka; A Payne; Bart P Leroy; Brian J Clark; Roger A Hitchings; Sue Povey; Peng Khaw; Shomi S Bhattacharya
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.
American journal of human genetics 2000;67(5):1129-35.
2000: Melanie M Sohocki; Isabelle Perrault; Bart P Leroy; Annette M Payne; Sharola Dharmaraj; Shomi S Bhattacharya; Josseline Kaplan; Irene H Maumenee; Robert K Koenekoop; Françoise Meire; David G Birch; John R Heckenlively; Stephen P Daiger
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Molecular genetics and metabolism 2000;70(2):142-50.
1998: A Uvijls; Bart P Leroy; M Leys; A De Rouck; Philippe Kestelyn
A large field Panel D-15 test for low vision patients.
Bulletin de la Société belge d'ophtalmologie 1998;270():57-65.