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Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.
Chiarelli N, Cinquina V, Martini P, Bertini V, Zoppi N, Venturini M, Ritelli M, Colombi M. Chiarelli N, et al. Among authors: venturini m. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166915. doi: 10.1016/j.bbadis.2023.166915. Epub 2023 Oct 10. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37827202 Free article.
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: venturini 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.
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: venturini 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.
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: venturini m. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58. Orphanet J Rare Dis. 2013. PMID: 23587214 Free PMC article.
695 results