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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: recalcati mp. 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: recalcati mp. Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16. Mol Cytogenet. 2012. PMID: 22475481 Free PMC article.
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Recalcati MP, Bonati MT, Beltrami N, Cardarelli L, Catusi I, Costa A, Garzo M, Mammi I, Mattina T, Nalesso E, Nardone AM, Postorivo D, Sajeva A, Varricchio A, Verri A, Villa N, Larizza L, Giardino D. Recalcati MP, et al. Eur J Med Genet. 2018 Mar;61(3):173-180. doi: 10.1016/j.ejmg.2017.11.007. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174090 Review.
28 results