Marco Ritelli

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Marco Ritelli, Chiara Dordoni, Marina Venturini et al. · Orphanet Journal of Rare Diseases · 2013 · 124 citations · Full text

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 pedigrees

Marco Castori, Chiara Dordoni, Michele Valiante et al. · American Journal of Medical Genetics Part A · 2014 · 79 citations

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi et al. · PLoS ONE · 2016 · 71 citations · Full text

Connective tissue anomalies in patients with spontaneous cervical artery dissection

Alessia Giossi, Marco Ritelli, Paolo Costa et al. · Neurology · 2014 · 62 citations · Full text

Thoracic Aortic Aneurysm in Infancy in Aneurysms–<scp>O</scp>steoarthritis Syndrome Due to a Novel <scp><i>SMAD</i></scp><i>3</i> Mutation: Further Delineation of the Phenotype

Anita Wischmeijer, Lut Van Laer, Giada Tortora et al. · American Journal of Medical Genetics Part A · 2013 · 62 citations

Thoracic Aortic Aneurysm, Aortic Diseases, Further Delineation +11