Onderzoeker
Aude Beyens
- Disciplines:Genetica, Dermatologie, Klinische genetica en moleculaire diagnostiek
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 sep 2016 → 30 sep 2018
Publicaties
1 - 10 van 26
- HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects(2023)
Auteurs: Aude Beyens, Charlotte Lietaer, Kathleen Claes, Elfride De Baere, Marleen Goeteyn, Bob Lerut, Hannes Syryn, Olivier Vanakker, Joni Van der Meulen, Lieve Vanwalleghem, et al.
Pagina's: 709 - 713 - EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis(2022)
Auteurs: Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Morgelin, Jurgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, et al.
Pagina's: 2230 - 2252 - Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies(2022)
Auteurs: Aude Beyens, Laure Dequeker, Hilde Brems, Sandra Janssens, Hannes Syryn, Anne DU+2019Hooghe, Pascale De Paepe, Lieve Vanwalleghem, Annelies Stockman, Elena Vankwikelberge, et al.
- Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations(2021)
Auteurs: Maxim Verlee, Aude Beyens, Alper Gezdirici, Elif Gulec, Lore Pottie, Silke De Feyter, Michiel Vanhooydonck, Piyanoot Tapaneeyaphan, Bert Callewaert
- Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis(2021)Edition: 2Series: Advances in Experimental Medicine and Biology (AEMB)
Auteurs: Aude Beyens, Lore Pottie, Patrick Sips, Bert Callewaert, Jaroslava Halper
Pagina's: 273 - 309 - Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome(2021)
Auteurs: Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Phil L. Salmon, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E. Urquhart, et al.
Pagina's: 1095 - 1114 - Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia(2020)Volume: 28
Auteurs: Aude Beyens, C. Adamo, E. Yilmaz Gulec, A. Gezdirici, P. Bonaldo, H. Bornaun, E. Brauchle, J. Brinckmann, W. P. Devine, B. Gangaram, et al.
Pagina's: 132 - 133 - Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects(2020)
Auteurs: Joyce Burger, Aude Beyens, Marjolijn Renard, Sander Barnhoorn, Christophe Casteleyn, Dieter Reinhardt, Benedicte Descamps, Christian Vanhove, Ingrid van der Pluijm, Jeroen Essers, et al.
Pagina's: 1476 - 1488 - Two novel probands with Myhre syndrome identified through WES(2019)Volume: 27
Auteurs: Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Björn Menten, Katrien Bonte, Tine De Backer, Sandra Janssens, Fransiska Malfait, Joseph Panzer, et al.
Pagina's: 118 - 118 - Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)(2019)
Auteurs: Aude Beyens, Juliette Albuisson, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, et al.
Pagina's: 1894 - 1895