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Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.
Micheloni G, Frattini A, Donini M, Dusi S, Leszl A, Di Meglio A, Pigazzi M, Musio A, Zecca M, Mina T, Rabusin M, Roccia P, Bernasconi P, Dambruoso I, Minelli A, Montalbano G, Acquati F, Porta G, Valli R, Pasquali F. Micheloni G, et al. Among authors: minelli a. Genes (Basel). 2023 Nov 16;14(11):2085. doi: 10.3390/genes14112085. Genes (Basel). 2023. PMID: 38003028 Free PMC article. Review.
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. 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: minelli a. Genes Chromosomes Cancer. 2006 Apr;45(4):375-82. doi: 10.1002/gcc.20301. Genes Chromosomes Cancer. 2006. PMID: 16382447
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
Khan AW, Kennedy A, Furutani E, Myers K, Frattini A, Acquati F, Roccia P, Micheloni G, Minelli A, Porta G, Cipolli M, Cesaro S, Danesino C, Pasquali F, Shimamura A, Valli R. Khan AW, et al. Among authors: minelli a. Mol Cytogenet. 2021 Nov 24;14(1):54. doi: 10.1186/s13039-021-00575-w. Mol Cytogenet. 2021. PMID: 34819134 Free PMC article.
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: minelli a. Genes Chromosomes Cancer. 2017 Jan;56(1):51-58. doi: 10.1002/gcc.22401. Epub 2016 Sep 21. Genes Chromosomes Cancer. 2017. PMID: 27553422
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.
Khan AW, Minelli A, Frattini A, Montalbano G, Bogni A, Fabbri M, Porta G, Acquati F, Pinto RM, Bergami E, Mura R, Pegoraro A, Cesaro S, Cipolli M, Zecca M, Danesino C, Locatelli F, Maserati E, Pasquali F, Valli R. Khan AW, et al. Among authors: minelli a. Mol Cytogenet. 2020 Jan 2;13:1. doi: 10.1186/s13039-019-0466-9. eCollection 2020. Mol Cytogenet. 2020. PMID: 31908654 Free PMC article.
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: minelli a. Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022. Front Genet. 2022. PMID: 36035165 Free PMC article.
374 results