Researcher
Tibbe Dhooge
- Disciplines:Laboratory medicine, Other clinical sciences, Other basic sciences, Genetics, Clinical genetics and molecular diagnostics, Cellular interactions and extracellular matrix
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 26 Sep 2021 - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2016 → 30 Sep 2018
Projects
1 - 1 of 1
- From variome to phenome: study of genetic defects underlying the heritable connective tissue disorder Ehlers-Danlos syndrome, and their pathogenic consequences on extracellular matrix organisation and functionFrom1 Oct 2016 → 30 Sep 2020Funding: BOF - Doctoral projects
Publications
1 - 8 of 8
- Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants(2022)Volume: 30
Authors: Marlies Colman, Robin Vroman, Tibbe Dhooge, Zoë Malfait, Birute Burnyte, Sheela Nampoothiri, Fransiska Malfait
Pages: 167 - 167 - Kyphoscoliotic EhlersU+2010Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms(2022)
Authors: Marlies Colman, Robin Vroman, Tibbe Dhooge, Zoë Malfait, Biruté Burnyté, Sheela Nampoothiri, Ariana Kariminejad, Fransiska Malfait
Pages: 1994 - 2009 - Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen(2021)
Authors: Tibbe Dhooge, Delfien Syx, Trinh Hermanns-Lê, Ingrid Hausser, Geert Mortier, Jonathan Zonana, Sofie Symoens, Peter H. Byers, Fransiska Malfait
Pages: 2378 - 2385 - Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome(2021)
Authors: Marlies Colman, Inge De Wandele, Tibbe Dhooge, Fransiska Malfait
Pages: 1294 - 1306 - Exploring collagen-related disorders : beyond the typical clinical and molecular spectrum(2021)
Authors: Tibbe Dhooge
- More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome(2021)
Authors: Tibbe Dhooge, Tim Van Damme, Sheela Nampoothiri, Anil Radhakrishnan, Pelin O. Simsek-Kiper, Gulen E. Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, et al.
Pages: 711 - 730 - Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix(2020)
Authors: Sarah Delbaere, Tibbe Dhooge, Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker, Fransiska Malfait
Pages: 112 - 123 - Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families(2018)
Authors: Tibbe Dhooge, Sarah Delbaere, Fransiska Malfait
Number of pages: 1