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t(12;13)(q14;q31) leading to HMGA2 upregulation in acute myeloid leukaemia.
Nyquist KB, Panagopoulos I, Thorsen J, Roberto R, Wik HS, Tierens A, Heim S, Micci F. Nyquist KB, et al. Among authors: roberto r. Br J Haematol. 2012 Jun;157(6):769-71. doi: 10.1111/j.1365-2141.2012.09081.x. Epub 2012 Mar 7. Br J Haematol. 2012. PMID: 22404713 Free article. No abstract available.
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.
Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT. Guastadisegni MC, et al. Among authors: roberto r. Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8. Eur J Med Genet. 2012. PMID: 22201559
Evolutionary movement of centromeres in horse, donkey, and zebra.
Carbone L, Nergadze SG, Magnani E, Misceo D, Francesca Cardone M, Roberto R, Bertoni L, Attolini C, Francesca Piras M, de Jong P, Raudsepp T, Chowdhary BP, Guérin G, Archidiacono N, Rocchi M, Giulotto E. Carbone L, et al. Among authors: roberto r. Genomics. 2006 Jun;87(6):777-82. doi: 10.1016/j.ygeno.2005.11.012. Epub 2006 Jan 18. Genomics. 2006. PMID: 16413164 Free article.
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.
She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M; NISC Comparative Sequencing Program; Green ED, Archidiacano N, Eichler EE. She X, et al. Among authors: roberto r. Genome Res. 2006 May;16(5):576-83. doi: 10.1101/gr.4949406. Epub 2006 Apr 10. Genome Res. 2006. PMID: 16606706 Free PMC article.
131 results