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Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, Selicorni A, Rigoldi M, Conconi D, Dalprà L, Roversi G, Bentivegna A. Redaelli S, et al. Among authors: selicorni a. Int J Mol Sci. 2019 Mar 4;20(5):1095. doi: 10.3390/ijms20051095. Int J Mol Sci. 2019. PMID: 30836598 Free PMC article.
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: selicorni a. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.
Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L. Gervasini C, et al. Among authors: selicorni a. Genomics. 2007 Nov;90(5):567-73. doi: 10.1016/j.ygeno.2007.07.012. Epub 2007 Sep 12. Genomics. 2007. PMID: 17855048 Free article.
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: selicorni a. 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.
257 results