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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
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
Minimal residual disease and trisomy 8.
Pasquali F, Maserati E. Pasquali F, et al. Cancer Genet Cytogenet. 2003 Jan 15;140(2):176. doi: 10.1016/s0165-4608(02)00679-9. Cancer Genet Cytogenet. 2003. PMID: 12645660 No abstract available.
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
226 results