Symoens, Sofie

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Malfait, F., Symoens, S., De Backer, J., Hermanns-Lê, T., Sakalihasan, N., Lapière, C. M., Coucke, P., & De Paepe, A. (2007) · Human Mutation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 167

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., & De Paepe, A. (2012) · Human Mutation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 165

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 142

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Malfait, F., Syx, D., Vlummens, P., Symoens, S., Nampoothiri, S., Hermanns-Lê, T., Van Laer, L., & De Paepe, A. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 122

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

Syx, D., Van Damme, T., Symoens, S., Maiburg, M. C., van de Laar, I., Morton, J., Suri, M., Del Campo, M., Hausser, I., Hermanns-Lê, T., et al. (2015) · Human Mutation

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 84

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

D'hondt, S., Guillemyn, B., Syx, D., Symoens, S., De Rycke, R., Vanhoutte, L., Toussaint, W., Lambrecht, B. N., De Paepe, A., Keene, D. R., et al. (2018) · Matrix Biology

Connective tissue disorders researchCollagen: Extraction and Characterization

Cited by 79

Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

Syx, D., De Wandele, I., Symoens, S., De Rycke, R., Hougrand, O., Voermans, N., De Paepe, A., & Malfait, F. (2019) · Human Molecular Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 51

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. Ö., Kroes, H. Y., et al. (2016) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 51

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

Syx, D., Symoens, S., Steyaert, W., De Paepe, A., Coucke, P. J., & Malfait, F. (2015) · Disease Markers

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 34

Genetics of the Ehlers–Danlos syndrome: More than collagen disorders

Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015) · Expert Opinion on Orphan Drugs

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 4