21. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing. Issue 10 (28th July 2020) Authors: Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Colombi, Marina Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Italian validation of the functional difficulties questionnaire (FDQ‐9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder. Issue 1 (23rd November 2018) Authors: Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J.; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco Journal: American journal of medical genetics Issue: Volume 180:Issue 1(2019) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain. Issue 2 (5th December 2013) Authors: Castori, Marco; Morlino, Silvia; Ritelli, Marco; Brancati, Francesco; De Bernardo, Carmelilia; Colombi, Marina; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 528 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review. Issue 1 (12th September 2016) Authors: Dordoni, Chiara; Ciaccio, Claudia; Santoro, Graziano; Venturini, Marina; Cavallari, Ugo; Ritelli, Marco; Colombi, Marina Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection. Issue 12 (26th January 2011) Authors: Pezzini, Alessandro; Drera, Bruno; Del Zotto, Elisabetta; Ritelli, Marco; Carletti, Monica; Tomelleri, Gianpaolo; Bovi, Paolo; Giossi, Alessia; Volonghi, Irene; Costa, Paolo; Magoni, Mauro; Padovani, Alessandro; Barlati, Sergio; Colombi, Marina Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 82:Issue 12(2011) Page Start: 1372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. 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) ↗
27. Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment. (14th June 2022) Authors: Maione, Vincenzo; Soglia, Simone; Miccio, Laura; Calzavara‐Pinton, Piergiacomo; Napolitano, Angela; Cinquina, Valeria; Ritelli, Marco; Colombi, Marina Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 20:Number 8(2022) Page Start: 1133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen. (15th August 2022) Authors: Maione, Vincenzo; Soglia, Simone; Miccio, Laura; Calzavara‐Pinton, Piergiacomo; Napolitano, Angela; Cinquina, Valeria; Ritelli, Marco; Colombi, Marina Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 20:Number 8(2022) Page Start: 1133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. 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) ↗
30. Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type. Issue 4 (7th March 2017) Authors: Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Venturini, Marina; Celletti, Claudia; Camerota, Filippo; Colombi, Marina; Castori, Marco Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 914 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗