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
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
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblastsNicoletta Zoppi, Marina Colombi|Human Molecular Genetics|2015Cited by 48
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
<i>COL6A5</i>variants in familial neuropathic chronic itchFilippo Martinelli Boneschi, Giuseppe Lauria, Marina Colombi et al.|Brain|2016Cited by 36