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Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL. Noris P, et al. Among authors: casale m. Haematologica. 2012 Jan;97(1):82-8. doi: 10.3324/haematol.2011.050682. Epub 2011 Sep 20. Haematologica. 2012. PMID: 21933849 Free PMC article.
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A. Noris P, et al. Among authors: casale m. Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5. Blood. 2011. PMID: 21467542 Free article.
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S, Stiehl DP, Punzo F, Scianguetta S, Borriello A, Bencivenga D, Casale M, Nobili B, Fasoli S, Balduzzi A, Cro L, Nytko KJ, Wenger RH, Della Ragione F. Perrotta S, et al. Among authors: casale m. Haematologica. 2013 Oct;98(10):1624-32. doi: 10.3324/haematol.2013.088369. Epub 2013 May 28. Haematologica. 2013. PMID: 23716564 Free PMC article.
Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood.
Colombatti R, Perrotta S, Samperi P, Casale M, Masera N, Palazzi G, Sainati L, Russo G; Italian Association of Pediatric Hematology-Oncology (AIEOP) Sickle Cell Disease Working Group. Colombatti R, et al. Among authors: casale m. Orphanet J Rare Dis. 2013 Oct 20;8:169. doi: 10.1186/1750-1172-8-169. Orphanet J Rare Dis. 2013. PMID: 24139596 Free PMC article.
Current challenges in the management of patients with sickle cell disease - A report of the Italian experience.
Russo G, De Franceschi L, Colombatti R, Rigano P, Perrotta S, Voi V, Palazzi G, Fidone C, Quota A, Graziadei G, Pietrangelo A, Pinto V, Ruffo GB, Sorrentino F, Venturelli D, Casale M, Ferrara F, Sainati L, Cappellini MD, Piga A, Maggio A, Forni GL. Russo G, et al. Among authors: casale m. Orphanet J Rare Dis. 2019 May 30;14(1):120. doi: 10.1186/s13023-019-1099-0. Orphanet J Rare Dis. 2019. PMID: 31146777 Free PMC article. Review.
456 results