Stefano Quinzani

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 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Bioinformatic and molecular characterization of beta-defensins-like peptides isolated from the green lizard Anolis carolinensis

Luisa Dalla Valle, Francesca Benato, Silvia Maistro et al. · Developmental & Comparative Immunology · 2011 · 57 citations

Life Sciences, Biology, Molecular Biology +11

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 mutations

Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi et al. · Molecular Genetics and Metabolism Reports · 2014 · 36 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni et al. · BMC Medical Genetics · 2014 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9compound heterozygosity

Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti et al. · BMC Medical Genetics · 2014 · 30 citations · Full text

Medicine, Genetics, Nephrology +16