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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: cipolli m. 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.
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: cipolli m. Leukemia. 2009 Apr;23(4):708-11. doi: 10.1038/leu.2008.369. Epub 2009 Jan 15. Leukemia. 2009. PMID: 19148133
Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.
André V, Longoni D, Bresolin S, Cappuzzello C, Dander E, Galbiati M, Bugarin C, Di Meglio A, Nicolis E, Maserati E, Serafini M, Warren AJ, Te Kronnie G, Cazzaniga G, Sainati L, Cipolli M, Biondi A, D'Amico G. André V, et al. Among authors: cipolli m. Blood Cancer J. 2012 Oct 12;2(10):e94. doi: 10.1038/bcj.2012.40. Blood Cancer J. 2012. PMID: 23064742 Free PMC article.
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: cipolli m. 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.
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A, Nacci L, Valli R, Pietrocola G, Ramenghi U, Locatelli F, Brescia L, Nicolis E, Cipolli M, Danesino C. Minelli A, et al. Among authors: cipolli m. Blood Cells Mol Dis. 2016 Sep;60:33-5. doi: 10.1016/j.bcmd.2016.06.007. Epub 2016 Jun 22. Blood Cells Mol Dis. 2016. PMID: 27519942 Free article. No abstract available.
96 results