Onderzoeker

Bart Leroy

Trefwoorden:Geneeskunde

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 132 results

The NU+2010terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond(2019)
Tijdschrift: Human Mutation
ISSN: 1059-7794
Issue: 5
Volume: 40
Auteurs: Sarah Naessens, Julie De Zaeytijd, Delfien Syx, Roosmarijn Vandenbroucke, Frédéric Smeets, Caroline Van Cauwenbergh, Bart Leroy, Frank Peelman, Frauke Coppieters
Pagina's: 539 - 551
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)
Tijdschrift: HUMAN MUTATION
ISSN: 1098-1004
Issue: 6
Volume: 40
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
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Tijdschrift: GENETICS IN MEDICINE
ISSN: 1098-3600
Issue: 8
Volume: 21
Auteurs: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, et al.
Pagina's: 1761 - 1771
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease(2019)
Tijdschrift: GENETICS IN MEDICINE
ISSN: 1530-0366
Issue: 6
Volume: 21
Auteurs: Stijn Van De Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, et al.
Pagina's: 1319 - 1329
Abetalipoproteinemia from previously unreported gene mutations(2019)
Tijdschrift: Annals of Internal Medicine
ISSN: 0003-4819
Issue: 3
Volume: 170
Auteurs: Xavier-Philippe Aers, Bart Leroy, Joep C Defesche, Samiah Shadid
Pagina's: 211 - 213
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Tijdschrift: Genetics in Medicine : Official Journal of the American College of Medical Genetics
ISSN: 1098-3600
Issue: 2
Volume: 20
Auteurs: Kristof Van Schil, Sarah Naessens, Stijn Van De Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, et al.
Pagina's: 202 - 213
The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene(2018)
Tijdschrift: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
ISSN: 1552-5783
Issue: 10
Volume: 59
Auteurs: Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere, et al.
Pagina's: 4123 - 4133
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease(2018)
Boek: Belgian Society for Human Genetics, 18th Annual meeting, Abstracts
Auteurs: Sarah Naessens, Alejandro Garanto, Miriam Bauwens, Riccardo Sangermano, Irina Balikova, Bart Leroy, Frans Cremers, Elfride De Baere, Rob Collin
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(2018)
Boek: European Human Genetics conference, Abstracts
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
Aantal pagina's: 1
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease(2018)
Boek: European Human Genetics conference, Abstracts
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
Aantal pagina's: 1

Onderzoeker

Bart Leroy

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