1. Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Issue 2 (3rd November 2019) Authors: Ritelli, Marco; Rovati, Chiara; Venturini, Marina; Chiarelli, Nicola; Cinquina, Valeria; Castori, Marco; Colombi, Marina Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders. (March 2015) Authors: Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco Journal: American journal of medical genetics Issue: Volume 169:Number 1(2015:Jan.) Page Start: 6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. Issue 1 (14th October 2016) Authors: Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport. Issue 11 (27th May 2016) Authors: Németh, Csilla E.; Marcolongo, Paola; Gamberucci, Alessandra; Fulceri, Rosella; Benedetti, Angiolo; Zoppi, Nicoletta; Ritelli, Marco; Chiarelli, Nicola; Colombi, Marina; Willaert, Andy; Callewaert, Bert L.; Coucke, Paul J.; Gróf, Pál; Nagy, Szilvia K.; Mészáros, Tamás; Bánhegyi, Gábor; Margittai,... Journal: FEBS letters Issue: Volume 590:Issue 11(2016) Page Start: 1630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. (16th September 2015) Authors: Zoppi, Nicoletta; Chiarelli, Nicola; Cinquina, Valeria; Ritelli, Marco; Colombi, Marina Journal: Human molecular genetics Issue: Volume 24:Number 23(2015:Dec. 01) Page Start: 6769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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. Issue 12 (22nd October 2014) Authors: Castori, Marco; Dordoni, Chiara; Valiante, Michele; Sperduti, Isabella; Ritelli, Marco; Morlino, Silvia; Chiarelli, Nicola; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; Calzavara‐Pinton, Piergiacomo; Grammatico, Paola; Colombi, Marina Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3010 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type. Issue 5 (26th March 2013) Authors: Dordoni, Chiara; Ritelli, Marco; Venturini, Marina; Chiarelli, Nicola; Pezzani, Lidia; Vascellaro, Annalisa; Calzavara‐Pinton, Piergiacomo; Colombi, Marina Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type. (5th February 2015) Authors: Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; Calzavara‐Pinton, Piergiacomo; Grammatico, Paola; Colombi, Marina Journal: American journal of medical genetics Issue: Volume 169:Number 1(2015:Jan.) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗