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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.
Castori M, Dordoni C, Valiante M, Sperduti I, Ritelli M, Morlino S, Chiarelli N, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Castori M, et al. Among authors: colombi m. Am J Med Genet A. 2014 Dec;164A(12):3010-20. doi: 10.1002/ajmg.a.36805. Epub 2014 Oct 22. Am J Med Genet A. 2014. PMID: 25338840
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: colombi 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. Among authors: colombi m. 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.
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: colombi 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.
290 results