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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: perobelli s. 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.
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: perobelli s. 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.
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: perobelli s. 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
21 results