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Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.
Roversi G, Picinelli C, Bestetti I, Crippa M, Perotti D, Ciceri S, Saccheri F, Collini P, Poliani PL, Catania S, Peissel B, Pagni F, Russo S, Peterlongo P, Manoukian S, Finelli P. Roversi G, et al. Among authors: russo s. Sci Rep. 2015 Oct 20;5:15454. doi: 10.1038/srep15454. Sci Rep. 2015. PMID: 26482194 Free PMC article.
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L. Giardino D, et al. Among authors: russo s. BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146. BMC Med Genet. 2010. PMID: 20939888 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: russo s. Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16. Mol Cytogenet. 2012. PMID: 22475481 Free PMC article.
1,767 results