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Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M. Drera B, et al. Among authors: ritelli m. J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. J Dermatol Sci. 2011. PMID: 22019127 No abstract available.
The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa.
Drera B, Ritelli M, Tadini G, Zoppi N, Venturini M, Calzavara-Pinton PG, Barlati S, Colombi M. Drera B, et al. Among authors: ritelli m. J Dermatol Sci. 2009 Mar;53(3):222-5. doi: 10.1016/j.jdermsci.2008.09.005. Epub 2008 Oct 25. J Dermatol Sci. 2009. PMID: 18951764 No abstract available.
Arterial tortuosity syndrome in two Italian paediatric patients.
Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M. Ritelli M, et al. Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20. Orphanet J Rare Dis. 2009. PMID: 19781076 Free PMC article.
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.
Pezzini A, Drera B, Del Zotto E, Ritelli M, Carletti M, Tomelleri G, Bovi P, Giossi A, Volonghi I, Costa P, Magoni M, Padovani A, Barlati S, Colombi M. Pezzini A, et al. Among authors: ritelli m. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1372-4. doi: 10.1136/jnnp.2010.231902. Epub 2011 Jan 26. J Neurol Neurosurg Psychiatry. 2011. PMID: 21270064
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report.
Del Zotto E, Ritelli M, Pezzini A, Drera B, Gamba M, Giossi A, Volonghi I, Costa P, Barlati S, Gasparotti R, Padovani A, Colombi M. Del Zotto E, et al. Among authors: ritelli m. Clin Neurol Neurosurg. 2012 Jul;114(6):758-61. doi: 10.1016/j.clineuro.2011.12.031. Epub 2012 Jan 23. Clin Neurol Neurosurg. 2012. PMID: 22277295 No abstract available.
99 results