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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: valli r. Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022. Front Genet. 2022. PMID: 36035165 Free PMC article.
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: valli r. Genes Chromosomes Cancer. 2004 Jul;40(3):165-71. doi: 10.1002/gcc.20030. Genes Chromosomes Cancer. 2004. PMID: 15138996
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: valli r. Genes Chromosomes Cancer. 2006 Apr;45(4):375-82. doi: 10.1002/gcc.20301. Genes Chromosomes Cancer. 2006. PMID: 16382447
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: valli r. 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.
130 results