Ghent University Academic Bibliography

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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports

Marlies Colman (UGent) , Marco Castori, Lucia Micale, Marco Ritelli, Marina Colombi, Neeti Ghali, Fleur Van Dijk, Luisa Marsili, Adrienne Weeks, Anthony Vandersteen, et al.

(2022) CLINICAL AND EXPERIMENTAL RHEUMATOLOGY. 40(5). p.S46-S62
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies Colman (UGent) , Robin Vroman (UGent) , Tibbe Dhooge, Zoë Malfait (UGent) , Sofie Symoens (UGent) , Biruté Burnyté, Sheela Nampoothiri, Ariana Kariminejad, Fransiska Malfait (UGent) and Delfien Syx (UGent)

(2022) HUMAN MUTATION. 43(12). p.1994-2009
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- Book Chapter
Collagens in the physiopathology of the Ehlers–Danlos Syndromes

Fransiska Malfait (UGent) , Robin Vroman (UGent) , Marlies Colman (UGent) and Delfien Syx (UGent)

(2021) The collagen superfamily and collagenopathies. In Biology of Extracellular Matrix 8. p.55-119
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- Journal Article
- A1
- open access
The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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- Conference Paper
- C3
- open access
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen - Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) Belgian Society for Human Genetics, 19th Annual meeting, Abstracts.

Academic Bibliography

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Collagens in the physiopathology of the Ehlers–Danlos Syndromes

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

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