Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Marina Colombi, Michele Traversa et al.|Orphanet Journal of Rare Diseases|2013Cited by 126
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature reviewMarco Ritelli, Marina Colombi, Giuseppe Santoro et al.|BMC Medical Genetics|2014Cited by 40
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
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutationMarco Ritelli, Marina Colombi, Roberto Maroldi et al.|BMC Medical Genetics|2014Cited by 33