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Page 1
Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization.
L'Abbate A, Moretti V, Pungolino E, Micheloni G, Valli R, Frattini A, Barcella M, Acquati F, Reinbold RA, Costantino L, Ferrara F, Trojani A, Ventura M, Porta G, Cairoli R. L'Abbate A, et al. Among authors: valli r. Genes (Basel). 2023 Jun 27;14(7):1351. doi: 10.3390/genes14071351. Genes (Basel). 2023. PMID: 37510256 Free PMC article.
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.
Nacheva E, Mokretar K, Soenmez A, Pittman AM, Grace C, Valli R, Ejaz A, Vattathil S, Maserati E, Houlden H, Taanman JW, Schapira AH, Proukakis C. Nacheva E, et al. Among authors: valli r. PLoS One. 2017 Jul 6;12(7):e0180467. doi: 10.1371/journal.pone.0180467. eCollection 2017. PLoS One. 2017. PMID: 28683077 Free PMC 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: valli r. 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.
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.
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498).
Maserati E, Panarello C, Morerio C, Valli R, Pressato B, Patitucci F, Tassano E, Di Cesare-Merlone A, Cugno C, Balduini CL, Lo Curto F, Dufour C, Locatelli F, Pasquali F. Maserati E, et al. Among authors: valli r. Haematologica. 2008 Aug;93(8):1271-3. doi: 10.3324/haematol.12748. Epub 2008 Jun 2. Haematologica. 2008. PMID: 18519517 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: valli r. 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.
129 results