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112 results

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Page 1
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: sainati l. Genes Chromosomes Cancer. 2006 Apr;45(4):375-82. doi: 10.1002/gcc.20301. Genes Chromosomes Cancer. 2006. PMID: 16382447
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: sainati l. 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: sainati l. 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: sainati l. Leukemia. 2009 Apr;23(4):708-11. doi: 10.1038/leu.2008.369. Epub 2009 Jan 15. Leukemia. 2009. PMID: 19148133
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
Cesaro S, Pegoraro A, Sainati L, Lucidi V, Montemitro E, Corti P, Ramenghi U, Nasi C, Menna G, Zecca M, Danesino C, Nicolis E, Pasquali F, Perobelli S, Tridello G, Farruggia P, Cipolli M. Cesaro S, et al. Among authors: sainati l. J Pediatr. 2020 Apr;219:196-201.e1. doi: 10.1016/j.jpeds.2019.12.041. Epub 2020 Feb 6. J Pediatr. 2020. PMID: 32037152
Incidence of Shwachman-Diamond syndrome.
Minelli A, Nicolis E, Cannioto Z, Longoni D, Perobelli S, Pasquali F, Sainati L, Poli F, Cipolli M, Danesino C. Minelli A, et al. Among authors: sainati l. Pediatr Blood Cancer. 2012 Dec 15;59(7):1334-5. doi: 10.1002/pbc.24260. Epub 2012 Aug 8. Pediatr Blood Cancer. 2012. PMID: 22887728 Free article. No abstract available.
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Nacci L, Danesino C, Sainati L, Longoni D, Poli F, Cipolli M, Perobelli S, Nicolis E, Cannioto Z, Morini J, Valli R, Pasquali F, Minelli A. Nacci L, et al. Among authors: sainati l. Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1. Br J Haematol. 2014. PMID: 24484588 Free article. No abstract available.
112 results