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Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Marina Colombi, Chiara Dordoni et al.|Orphanet Journal of Rare Diseases|2013Cited by 126
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigreesMarco Castori, Marina Colombi, Filippo Camerota et al.|American Journal of Medical Genetics Part A|2014Cited by 79
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility TypeNicola Chiarelli, Marina Colombi, Giulia Carini et al.|PLoS ONE|2016Cited by 75
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndromeNicola Chiarelli, Marina Colombi|PLoS ONE|2018Cited by 43