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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: cesaro s. Genes Chromosomes Cancer. 2017 Jan;56(1):51-58. doi: 10.1002/gcc.22401. Epub 2016 Sep 21. Genes Chromosomes Cancer. 2017. PMID: 27553422
Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
Bardelli D, Dander E, Bugarin C, Cappuzzello C, Pievani A, Fazio G, Pierani P, Corti P, Farruggia P, Dufour C, Cesaro S, Cipolli M, Biondi A, D'Amico G. Bardelli D, et al. Among authors: cesaro s. Br J Haematol. 2018 Jul;182(1):114-124. doi: 10.1111/bjh.15388. Epub 2018 May 16. Br J Haematol. 2018. PMID: 29767474 Free article.
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: cesaro s. 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: cesaro s. 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.
417 results