Onderzoeker

Bart Leroy

Disciplines:Optometrie, Oogheelkunde, Optische technologie, Epigenetica, Moleculaire geneeskunde, Oftalmologie en optometrie niet elders geclassificeerd, Klinische genetica en moleculaire diagnostiek, Immunogenetica, Genetica

Publicaties

1 - 10 of 140 results

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum(2020)
Auteurs: Eva De Vilder, Mohammad Jakir Hosen, Ludovic Martin, Julie De Zaeytijd, Bart Leroy, Jean-Marc Ebran, Paul Coucke, Anne De Paepe, Olivier Vanakker
Pagina's: 74 - 79
Functional characterization of the first missense variant in CEP78, a founder allele associated with coneU+2010rod dystrophy, hearing loss and reduced male fertility(2020)
Auteurs: Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, et al.
Pagina's: 998 - 1011
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Auteurs: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Rita De Rycke, Brecht Guillemyn, Sarah De Jaegere, Frauke Coppieters, Rudy Van Coster, Bart Leroy, et al.
Pagina's: 426 - 436
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56(2020)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.
Aantal pagina's: 1
Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations(2019)
Auteurs: Mays Talib, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh, Jacoline B. ten Brink, Elfride De Baere, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy, Arthur A. Bergen, et al.
Aantal pagina's: 1
Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders(2019)
Auteurs: Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, et al.
Pagina's: 765 - 787
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease(2019)
Volume: 27
Auteurs: Miriam Bauwens, Sarah Naessens, Caroline Van Cauwenbergh, Thalia Van Laethem, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd, Bart Leroy, Elfride De Baere
Pagina's: 42 - 43
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells(2019)
Volume: 60
Auteurs: Sarah Naessens, Rob W Collin, Frauke Coppieters, Miriam Bauwens, Lonneke Duijkers, Irina Balikova, Bart Leroy, Elfride De Baere, Alex Garanto
Aantal pagina's: 1
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss(2019)
Volume: 60
Auteurs: Giulia Ascari, Frank Peelman, Nina Lambrechts, Thalia Van Laethem, Toon Rosseel, Pietro Farinelli, David Creytens, Irina Balikova, Jan Gerris, Claus Bachert, et al.
Aantal pagina's: 1
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes(2019)
Volume: 27
Auteurs: Stijn Van De Sompele, Kristof Van Schil, Caroline Van Cauwenbergh, Toon Rosseel, Sarah De Jaegere, Thalia Van Laethem, Irina Balikova, Bart Leroy, Frauke Coppieters, Elfride De Baere
Pagina's: 54 - 54

Onderzoeker

Bart Leroy

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