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Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene. 1-gen-2011 Punzo, F; Bertoli Avella, Am; Scianguetta, S; DELLA RAGIONE, Fulvio; Casale, Maddalena; Ronzoni, L; Cappellini, Md; Forni, G; Oostra, Ba; Perrotta, Silverio
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families 1-gen-2011 Noris, P; Perrotta, Silverio; 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, Maddalena; Marconi, C; Pippucci, T; Amendola, G; Notarangelo, Ld; Klersy, C; Civaschi, E; Balduini, Cl; Savoia, A.
Splenectomy for hereditary spherocytosis: complete, partial or not at all? 1-gen-2011 Casale, Maddalena; Perrotta, Silverio
Deferasirox: la chelazione ottimale nelle anemie trasfusione-dipendenti 1-gen-2012 Perrotta, Silverio; Casale, Maddalena
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation) 1-gen-2012 Noris, P; Perrotta, Silverio; Bottega, R; Pecci, A; Melazzini, F; Civaschi, E; Russo, S; Magrin, S; Loffredo, G; Di Salvo, V; Russo, G; Casale, Maddalena; De Rocco, D; Grignani, C; Cattaneo, M; Baronci, C; Dragani, A; Albano, V; Jankovic, M; Scianguetta, S; Savoia, A; Balduini, C. L.
Effect of splenectomy on iron balance in patients with β-thalassemia major: a long-term follow-up 1-gen-2013 Casale, Maddalena; Cinque, P; Ricchi, P; Costantini, S; Spasiano, A; Prossomariti, L; Minelli, S; Frega, V; Filosa, A.
Nephrolithiasis in patients exposed to deferasirox and desferioxamine: probably an age-linked event with different effects on some renal parameters 1-gen-2013 Ricchi, P; Ammirabile, M; Costantini, S; Spasiano, A; Di Matola, T; Cinque, P; Casale, Maddalena; Filosa, A; Prossomariti, L.
Long-term efficacy of deferasirox for cardiac siderosis in thalassemia major 1-gen-2013 Casale, Maddalena; Citarella, S; Palmieri, F; Lo Mastro, M; Pugliese, U; Amendola, G; De Michele, E; Ragozzino, A; Tartaglione, I; Della Rocca, F; Nobili, Bruno; Perrotta, Silverio
Long term efficacy of iron chelation therapy with deferasirox on endocrine function in thalassemia major 1-gen-2013 Casale, Maddalena; Citarella, S; Filosa, A; De Michele, E; Pugliese, U; Palmieri, F; Ragozzino, A; Amendola, G; Tartaglione, I; Della Rocca, M; Nobili, Bruno; Perrotta, Silverio
Organizing national responses for rare blood disorders: The Italian experience with sickle cell disease in childhood 1-gen-2013 Colombatti, R; Perrotta, Silverio; Samperi, P; Casale, Maddalena; Masera, N; Palazzi, G; Sainati, L; Russo, G; on behalf of the Italian Association of Pediatric Hematology Oncology Sickle Cell Disease Working, Group
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range. 1-gen-2013 Perrotta, Silverio; Stiehl, Daniel P; Punzo, Francesca; Scianguetta, Saverio; Borriello, Adriana; Bencivenga, Debora; Casale, Maddalena; Nobili, Bruno; Fasoli, Silvia; Balduzzi, Adriana; Cro, Lilla; Nytko, Katarzyna J; Wenger, Roland H.; DELLA RAGIONE, Fulvio
Long-term treatment with deferiprone enhances left ventricular ejection function when compared to deferoxamine in patients with thalassemia major 1-gen-2013 Filosa, A; Vitrano, A; Rigano, P; Calvaruso, G; Barone, R; Capra, M; Cuccia, L; Gagliardotto, F; Pitrolo, L; Prossomariti, L; Casale, Maddalena; Caruso, V; Gerardi, C; Campisi, S; Cianciulli, P; Rizzo, M; D'Ascola, G; Ciancio, A; Maggio, A.
Extramedullary haematopoiesis correlates with genotype and absence of cardiac iron overload in polytransfused adults with thalassaemia 1-gen-2013 Ricchi, P; Ammirabile, M; Spasiano, A; Costantini, S; Di Matola, T; Pepe, A; Cinque, P; Pagano, L; Casale, Maddalena; Filosa, A; Prossomariti, L.
HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. 1-gen-2013 Mancusi, S; La Manna, A; Bellini, Giulia; Scianguetta, S; Roberti, D; Casale, Maddalena; Rossi, Francesca; DELLA RAGIONE, Fulvio; Perrotta, Silverio
Endocrine function and bone disease during long-term chelation therapy with deferasirox in patients with β-thalassemia major. 1-gen-2014 Casale, Maddalena; Citarella, S; Filosa, A; De Michele, E; Palmieri, F; Ragozzino, A; Amendola, G; Pugliese, U; Tartaglione, I; Della Rocca, F; Cinque, P; Nobili, Bruno; Perrotta, Silverio
Subarachnoid haemorrhage and cerebral vasculopathy in a child with sickle cell anaemia 1-gen-2014 Inusa, B; Casale, Maddalena; Booth, C; Lucas, S.
National systematic approach to the management of asplenia: the set up of the Italian Network on Asplenia 1-gen-2014 Casale, Maddalena; Colombatti, R; Sainati, L; Casini, T; Notarangelo, L; Masera, N; Russo, G; Farruggia, P; Vasta, I; Capolsini, I; Giordano, P; Pusiol, A; Capozzi, G; Filosa, A; Perrotta, Silverio
Myocardial fibrosis by CMR LGE in a large cohort of pediatric thalassemia major patients 1-gen-2014 Meloni, A; Casale, Maddalena; Filosa, A; Pagano, B; Positano, V; Vallone, A; Valeri, G; De Marchi, D; Lombardi, M; Pepe, A.
Prospective MRI study in pediatric thalassemia major (TM) patients in the MIOT network: a tool to strengthen medical decisions 1-gen-2014 Casale, Maddalena; Meloni, A; Cuccia, L; D’Ascola, D; Caruso, V; Quarta, A; Putti, Mc; Tudisca, C; Filosa, A; Pepe, A.
BONE MINERAL DENSITY IMPROVEMENT IN PATIENTS WITH THALASSEMIA MAJOR ON LONG-TERM CHELATION THERAPY WITH DEFERASIROX 1-gen-2014 Casale, Maddalena; Citarella, S; Amendola, G; Iolascon, Giovanni; Costantini, S; De Michele, E; Pugliese, U; Tartaglione, I; Gallicola, F; Cinque, P; Filosa, A; Perrotta, Silverio
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