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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: russo s. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071
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: russo s. Clin Genet. 2007 Aug;72(2):98-108. doi: 10.1111/j.1399-0004.2007.00832.x. Clin Genet. 2007. PMID: 17661813
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L, Cereda A, Caselli R, Maitz S, Russo S, Selicorni A, Larizza L, Giardino D. Ballarati L, et al. Among authors: russo s. Eur J Med Genet. 2012 Feb;55(2):124-7. doi: 10.1016/j.ejmg.2011.12.001. Epub 2011 Dec 17. Eur J Med Genet. 2012. PMID: 22210230 Free article.
1,694 results