Onderzoeker
Sofie Symoens
- Disciplines:Epigenetica, Klinische genetica en moleculaire diagnostiek, Immunogenetica, Genetica
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 apr 2001 → 30 sep 2018
Publicaties
11 - 20 van 26
- Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome(2020)
Auteurs: Sarah Delbaere, Tim Van Damme, Delfien Syx, Sofie Symoens, Paul Coucke, Andy Willaert, Fransiska Malfait
Pagina's: 59 - 75 - 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 - Vascular Ehlers-Danlos syndrome in 2 Polish patients : identification of 2 novel COL3A1 gene mutations(2019)
Auteurs: Malgorzata Konieczynska, Ewa Wypasek, Marek Karpinski, Monika Komar, Sofie Symoens, Paul Coucke, Anetta Undas
Pagina's: 1070 - 1073 - The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review(2019)
Auteurs: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
- Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature(2019)
Auteurs: Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, et al.
- Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features(2018)
Auteurs: Sarah Delbaere, Tim Van Damme, Delfien Syx, Sofie Symoens, Andy Willaert, Fransiska Malfait
Aantal pagina's: 1 - Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy(2018)
Auteurs: Katarina Lindahl, Eva Astrom, Anca Dragomir, Sofie Symoens, Paul Coucke, Sune Larsson, Eleftherios Paschalis, Paul Roschger, Sonja Gamsjaeger, Klaus Klaushofer, et al.
Pagina's: 268 - 277 - Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome(2017)
Auteurs: Sarah Delbaere, Tim Van Damme, Paul Coucke, Sofie Symoens, Delfien Syx, Andy Willaert, Fransiska Malfait
Aantal pagina's: 1 - Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta(2015)
Auteurs: Laura Bianchi, Assunta Gagliardi, Silvia Maruelli, Roberta Besio, Claudia Landi, Roberta Gioia, Kenneth M. Kozloff, Basma M. Khoury, Paul Coucke, Sofie Symoens, et al.
Pagina's: 6118 - 6133 - Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development(2015)Volume: 23
Auteurs: Sanne D'hondt, Brecht Guillemyn, Sofie Symoens, Wendy Toussaint, Leen Vanhoutte, Riet De Rycke, Paul Coucke, Bart Lambrecht, Patrick Segers, Anne De Paepe, et al.
Pagina's: 110 - 110