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De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: discepoli g. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
Bonaglia MC, Bertuzzo S, Ciaschini AM, Discepoli G, Castiglia L, Romaniello R, Zuffardi O, Fichera M. Bonaglia MC, et al. Among authors: discepoli g. Mol Cytogenet. 2020 Jun 11;13:22. doi: 10.1186/s13039-020-00490-6. eCollection 2020. Mol Cytogenet. 2020. PMID: 32536973 Free PMC article.
6q deletion detected by fluorescence in situ hybridization using bacterial artificial chromosome in chronic lymphocytic leukemia.
Dalsass A, Mestichelli F, Ruggieri M, Gaspari P, Pezzoni V, Vagnoni D, Angelini M, Angelini S, Bigazzi C, Falcioni S, Troiani E, Alesiani F, Catarini M, Attolico I, Scortechini I, Discepoli G, Galieni P. Dalsass A, et al. Among authors: discepoli g. Eur J Haematol. 2013 Jul;91(1):10-9. doi: 10.1111/ejh.12115. Epub 2013 May 24. Eur J Haematol. 2013. PMID: 23560441
Meningioma-like cerebral relapse of Hodgkin's disease.
Montillo M, Scarpelli M, Discepoli G, Catarini M, Rychlicki F, Leoni P. Montillo M, et al. Among authors: discepoli g. Leuk Lymphoma. 1994 Jun;14(1-2):185-7. doi: 10.3109/10428199409049667. Leuk Lymphoma. 1994. PMID: 7920227
Mobilization-driven postconsolidation therapy in elderly patients with acute myeloid leukemia: feasibility and efficacy of autologous stem cell transplantation versus low-dose gemtuzumab ozogamicin.
Capelli D, Chiarucci M, Poloni A, Saraceni F, Mancini G, Trappolini S, Troiani E, Montanari M, Scortechini I, Offidani M, Rupoli S, Scortechini AR, Gini G, Discepoli G, Leoni P, Olivieri A. Capelli D, et al. Among authors: discepoli g. Biol Blood Marrow Transplant. 2014 Sep;20(9):1399-406. doi: 10.1016/j.bbmt.2014.05.019. Epub 2014 May 28. Biol Blood Marrow Transplant. 2014. PMID: 24880020 Free article. Clinical Trial.
Low-dose Gemtuzumab-Ozogamicin as post-consolidation therapy in elderly patients with acute myeloid leukaemia: a pilot study.
Poloni A, Capelli D, Trappolini S, Costantini B, Montanari M, Gini G, Scortechini I, Mancini G, Discepoli G, Leoni P, Olivieri A. Poloni A, et al. Among authors: discepoli g. Br J Haematol. 2010 Jul;150(1):119-21. doi: 10.1111/j.1365-2141.2010.08168.x. Epub 2010 Apr 5. Br J Haematol. 2010. PMID: 20377587 Free article. Clinical Trial. No abstract available.
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