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Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M, Menna G, Sainati L, Poli F, Panarello C, Zecca M, Curto FL, Mecucci C, Danesino C, Pasquali F. Maserati E, et al. Among authors: pasquali f. Genes Chromosomes Cancer. 2006 Apr;45(4):375-82. doi: 10.1002/gcc.20301. Genes Chromosomes Cancer. 2006. PMID: 16382447
Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects.
Maserati E, Minelli A, Menna G, Cecchini MP, Bernardo ME, Rossi G, De Filippi P, Lo Curto F, Danesino C, Locatelli F, Pasquali F. Maserati E, et al. Among authors: pasquali f. Cancer Genet Cytogenet. 2004 Jan 15;148(2):155-8. doi: 10.1016/s0165-4608(03)00271-1. Cancer Genet Cytogenet. 2004. PMID: 14734230
Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.
Minelli A, Maserati E, Rossi G, Bernardo ME, De Stefano P, Cecchini MP, Valli R, Albano V, Pierani P, Leszl A, Sainati L, Lo Curto F, Danesino C, Locatelli F, Pasquali F. Minelli A, et al. Among authors: pasquali f. Genes Chromosomes Cancer. 2004 Jul;40(3):165-71. doi: 10.1002/gcc.20030. Genes Chromosomes Cancer. 2004. PMID: 15138996
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.
Maserati E, Pressato B, Valli R, Minelli A, Sainati L, Patitucci F, Marletta C, Mastronuzzi A, Poli F, Lo Curto F, Locatelli F, Danesino C, Pasquali F. Maserati E, et al. Among authors: pasquali f. Br J Haematol. 2009 Apr;145(2):190-7. doi: 10.1111/j.1365-2141.2009.07611.x. Epub 2009 Feb 17. Br J Haematol. 2009. PMID: 19222471 Free article.
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.
Minelli A, Maserati E, Nicolis E, Zecca M, Sainati L, Longoni D, Lo Curto F, Menna G, Poli F, De Paoli E, Cipolli M, Locatelli F, Pasquali F, Danesino C. Minelli A, et al. Among authors: pasquali f. Leukemia. 2009 Apr;23(4):708-11. doi: 10.1038/leu.2008.369. Epub 2009 Jan 15. Leukemia. 2009. PMID: 19148133
226 results