Onderzoeker
Marieke De Bruyne
- Trefwoorden:Genetica
- Disciplines:Genetica, Immunogenetica, Klinische genetica en moleculaire diagnostiek
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 31 dec 2019 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf18 aug 2014 → 30 sep 2018
Publicaties
1 - 10 of 19 results
- Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudoU+2010exon activation in the BLM gene(2021)
Auteurs: Lynn Backers, Bram Parton, Marieke De Bruyne, Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht, Filomeen Haerynck, Kathleen Claes
Pagina's: 292 - 297 - GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner(2020)
Auteurs: Delfien Bogaert, Genevieve Laureys, Leslie Naesens, DOMINIEK MAZURE, Marieke De Bruyne, Amy P. Hsu, Victoria Bordon Maria, Erik Wouters, Simon Tavernier, Bart Lambrecht, et al.
Pagina's: 768 - 773 - Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene(2020)
Auteurs: Lynn Backers, Bram Parton, Marieke De Bruyne, Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht, Filomeen Haerynck, Kathleen Claes
Aantal pagina's: 1 - Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome(2020)
Auteurs: Vivien Béziat, Simon Tavernier, Yin-Huai Chen, Cindy S. Ma, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, et al.
Aantal pagina's: 1 - Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing(2020)
Auteurs: Giulia Ascari, Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd, Valerie Baumont, Marieke De Bruyne, Toon Rosseel, Mattias Van Heetvelde, Tim De Pooter, Wouter De Coster, et al.
Aantal pagina's: 1 - First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation(2020)
Auteurs: Lynn Backers, Bram Parton, Stephanie Vermeulen, Marieke De Bruyne, Kris Van Den Bogaert, Anne Vral, Ans Baeyens, Simon Tavernier, Filomeen Haerynck, Kathleen Claes
Aantal pagina's: 1 - A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation(2019)
Auteurs: Simon Tavernier, V Athanasopoulos, PATRICK VERLOO, G Behrens, Jens Staal, Delfien Bogaert, Leslie Naesens, Marieke De Bruyne, Sofie Van Gassen, Eef Parthoens, et al.
Aantal pagina's: 1 - cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance(2019)
Auteurs: Lynn Backers, Marieke De Bruyne, Simon Tavernier, Filomeen Haerynck, Kathleen Claes
Aantal pagina's: 1 - 'Every sweet has its sour' : rare skin lesions in a boy with combined immunodeficiency(2019)
Auteurs: Delfien Bogaert, Margo Hagendorens, Marieke De Bruyne, Hilde Lapeere, Annick Covents, Elfride De Baere, Frans De Baets, Filomeen Haerynck
Aantal pagina's: 1 - A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects(2018)
Auteurs: Delfien Bogaert, Hye Sun Kuehn, Carolien Bonroy, Katherine R Calvo, Jo Dehoorne, Arnaud Vanlander, Marieke De Bruyne, Urszula Cytlak, Venetia Bigley, Frans De Baets, et al.
Pagina's: 432 - 435