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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: masciadri m. Clin Genet. 2007 Aug;72(2):98-108. doi: 10.1111/j.1399-0004.2007.00832.x. Clin Genet. 2007. PMID: 17661813
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, Haas O, Scarano G, Di Rocco M, Finelli P, Tenconi R, Selicorni A, Larizza L. Russo S, et al. Among authors: masciadri m. Eur J Hum Genet. 2012 Jul;20(7):734-41. doi: 10.1038/ejhg.2012.7. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353942 Free PMC article.
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
Finelli P, Sirchia SM, Masciadri M, Crippa M, Recalcati MP, Rusconi D, Giardino D, Monti L, Cogliati F, Faravelli F, Natacci F, Zoccante L, Bernardina BD, Russo S, Larizza L. Finelli P, et al. Among authors: masciadri m. Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16. Mol Cytogenet. 2012. PMID: 22475481 Free PMC article.
29 results