Hausser, Ingrid

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

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Adès, L. C., Malfait, F., Paepe, A. D., Franck, P., et al. (2004) · Journal of Investigative Dermatology

Connective tissue disorders researchProtease and Inhibitor Mechanisms

Cited by 139

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

Defect in proline synthesis: pyrroline‐5‐carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, R., Bozorgmehr, B., Kariminejad, M. H., Rohrbach, M., Hausser, I., Baumer, A., Baumgartner, M., Giunta, C., Kariminejad, A., & Häberle, J. (2011) · Journal of Inherited Metabolic Disease

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 34

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

Lim, P. J., Lindert, U., Opitz, L., Hausser, I., Rohrbach, M., & Giunta, C. (2019) · Genes

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 25