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Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I, Foroni S, Valli R, Frattini A, Roccia P, Porta G, Zecca M, Bergami E, Cipolli M, Pasquali F, Danesino C, Scotti C, Minelli A. Taha I, et al. Among authors: cipolli m. Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022. Front Genet. 2022. PMID: 36035165 Free PMC 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: cipolli m. Leukemia. 2009 Apr;23(4):708-11. doi: 10.1038/leu.2008.369. Epub 2009 Jan 15. Leukemia. 2009. PMID: 19148133
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.
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.
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Nacci L, Valli R, Maria Pinto R, Zecca M, Cipolli M, Morini J, Cesaro S, Boveri E, Rosti V, Corti P, Ambroni M, Pasquali F, Danesino C, Maserati E, Minelli A. Nacci L, et al. Among authors: cipolli m. Genes Chromosomes Cancer. 2017 Jan;56(1):51-58. doi: 10.1002/gcc.22401. Epub 2016 Sep 21. Genes Chromosomes Cancer. 2017. PMID: 27553422
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A. Morini J, et al. Among authors: cipolli m. Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10. Br J Haematol. 2019. PMID: 30198570 Free article. No abstract available.
Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
Valli R, Minelli A, Galbiati M, D'Amico G, Frattini A, Montalbano G, Khan AW, Porta G, Millefanti G, Olivieri C, Cipolli M, Cesaro S, Pasquali F, Danesino C, Cazzaniga G, Maserati E. Valli R, et al. Among authors: cipolli m. Br J Haematol. 2019 Mar;184(6):974-981. doi: 10.1111/bjh.15729. Epub 2018 Dec 26. Br J Haematol. 2019. PMID: 30585299 Free article.
96 results