Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Marina Colombi, Emanuela Manfredini et al.|Orphanet Journal of Rare Diseases|2013Cited by 126
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutationsMarco Ritelli, Marina Colombi, Nicola Chiarelli et al.|Molecular Genetics and Metabolism Reports|2014Cited by 36