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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. Musio A, et al. Among authors: gervasini c. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Bentivegna A, et al. Among authors: gervasini c. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. Selicorni A, et al. Among authors: gervasini c. Clin Genet. 2007 Aug;72(2):98-108. doi: 10.1111/j.1399-0004.2007.00832.x. Clin Genet. 2007. PMID: 17661813
Cornelia de Lange syndrome: extending the physical and psychological phenotype.
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC. Oliver C, et al. Among authors: gervasini c. Am J Med Genet A. 2010 May;152A(5):1127-35. doi: 10.1002/ajmg.a.33363. Am J Med Genet A. 2010. PMID: 20425817 No abstract available.
116 results