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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R, Marzollo A, Marinoni M, Athanasakis E, Persico I, Bianco AM, Faleschini M, Valencic E, Simoncini D, Rossini L, Corsolini F, La Bianca M, Robustelli G, Gabelli M, Agosti M, Biffi A, Grotto P, Bozzi V, Noris P, Burlina AB, D'Adamo AP, Tommasini A, Faletra F, Pastore A, Savoia A. Bottega R, et al. Among authors: gabelli m. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: gabelli m. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
A mixed-methods study of the disease experience in hematopoietic stem cell transplantation survivors: the contribution of text analysis.
Sinatora F, Di Florio N, Traverso A, Zanato S, Porreca A, Tremolada M, Tumino M, Marzollo A, Mainardi C, Gabelli M, Calore E, Pillon M, Cattelan C, Messina C, Basso G. Sinatora F, et al. Among authors: gabelli m. J Psychosoc Oncol. 2020 Nov-Dec;38(6):728-745. doi: 10.1080/07347332.2020.1814932. Epub 2020 Sep 10. J Psychosoc Oncol. 2020. PMID: 32907524
Treosulfan-Based Conditioning Regimen in Sibling and Alternative Donor Hematopoietic Stem Cell Transplantation for Children with Sickle Cell Disease.
Marzollo A, Calore E, Tumino M, Pillon M, Gazzola MV, Destro R, Colombatti R, Marson P, Tison T, Colpo A, Mainardi C, Gabelli M, Boaro MP, Rossin S, Strano A, Quaglia N, Menzato F, Basso G, Sainati L, Messina C. Marzollo A, et al. Among authors: gabelli m. Mediterr J Hematol Infect Dis. 2017 Feb 15;9(1):e2017014. doi: 10.4084/MJHID.2017.014. eCollection 2017. Mediterr J Hematol Infect Dis. 2017. PMID: 28293402 Free PMC article.
22 results