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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
Membrane association of peroxiredoxin-2 in red cells is mediated by n-terminal cytoplasmic domain of band 3. 1-gen-2013 Matte, A; Bertoldi, M; Mohandas, N; An, X; Bugatti, A; Maria Brunati, A; Rusnati, M; Tibaldi, E; Siciliano, A; Turrini, F; Perrotta, Silverio; De Franceschi, L.
Early-Onset Central Diabetes Insipidus is Associated to de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations. 1-gen-2014 Allegri, A. E. M; Di Iorgia, N.; Perrotta, Silverio; DELLA RAGIONE, Fulvio; Scianguetta, S.; Borriello, Adriana; Ferraro, M.; Santoro, C.; Calcagno, A.; Napoli, F.; Giaccardi, M.; Cappa, M.; Salerno, M. C.; M., Maghnie
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. 1-gen-2014 Brugnara, M; Gaudino, R; Tedeschi, S; Syrèn, Ml; Perrotta, Silverio; Maines, E; Zaffanello, M.
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
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 1-gen-2014 Santoro, C; Pacileo, G; Limongelli, G; Scianguetta, S; Giugliano, T; Piluso, G; Della Ragione, F; Cirillo, M; Mirone, G; Perrotta, S
Iron overload causes osteoporosis in Thalassemia Major patients through interaction with TRPV1 channels. 1-gen-2014 Rossi, Francesca; Perrotta, Silverio; Bellini, Giulia; Luongo, Livio; Tortora, C; Siniscalco, D; Francese, M; Torella, Marco; Nobili, Bruno; Di Marzo, V; Maione, Sabatino
p27Kip1 serine 10 phosphorylation determines its metabolism and interaction with cyclin-dependent kinases. 1-gen-2014 Bencivenga, Debora; Tramontano, Annunziata; Borgia, Alessia; Negri, Aide; Caldarelli, Ilaria; Oliva, Adriana; Perrotta, Silverio; DELLA RAGIONE, Fulvio; Borriello, Adriana
Cardiac autonomic regulation in response to a mixed meal is impaired in obese children and adolescents: the role played by insulin resistance. 1-gen-2014 Cozzolino, Domenico; Esposito, Katherine; Palmiero, G; DE BELLIS, Annamaria; Furlan, R; Perrotta, Silverio; Perrone, Laura; Torella, D; MIRAGLIA DEL GIUDICE, Emanuele
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
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation 1-gen-2014 Bluteau, D; Balduini, A; Balayn, N; Currao, M; Nurden, P; Deswarte, C; Leverger, G; Noris, P; Perrotta, Silverio; Solary, E; Vainchenker, W; Debili, N; Favier, R; Raslova, H.
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 1-gen-2014 De Rocco, D; Bottega, R; Cappelli, E; Cavani, S; Criscuolo, M; Nicchia, E; Corsolini, F; Greco, C; Borriello, Adriana; Svahn, J; Pillon, M; Mecucci, C; Casazza, G; Verzegnassi, F; Cugno, C; Locasciulli, A; Farruggia, P; Longoni, D; Ramenghi, U; Barberi, W; Tucci, F; Perrotta, Silverio; Grammatico, P; Hanenberg, H; DELLA RAGIONE, Fulvio; Dufour, C; Savoia, A; Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco, Hematology
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
Prevalence and risk factors for pulmonary arterial hypertension in a large group of β-thalassemia patients using right heart catheterization: a Webthal study. 1-gen-2014 Derchi, G; Galanello, R; Bina, P; Cappellini, Md; Piga, A; Lai, Me; Quarta, A; Casu, G; Perrotta, Silverio; Pinto, V; Musallam, Km; Forni, Gl; Webthal Pulmonary Arterial Hypertension, Group
Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department 1-gen-2014 Forni, Gl; Finco, G; Graziadei, G; Balocco, M; Rigano, P; Perrotta, Silverio; Olivieri, O; Cappellini, Md; De Franceschi, L.
Genetic basis of congenital erythrocytosis: mutation update and online databases. 1-gen-2014 Bento, Celeste; Percy, Melanie J; Gardie, Betty; Magalhaes Maia, Tabita; van Wijk, Richard; Perrotta, Silverio; DELLA RAGIONE, Fulvio; Almeida, Helena; Rossi, Cedric; Girodon, Francois; Astrom, Maria; Neumann, Drorit; Schnittger, Susanne; Landin, Britta; Minkov, Milen; (Randi, Maria Luigia; Richard, Stephane; Casadevall, Nicole; Vainchenker, William; Rives, Susana; Hermouet, Sylvie; Ribeiro, M. Leticia; Mcmullin, Mary Frances; Cario, Holger
Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples 1-gen-2015 Belsito, Angela; Costa, D; Fiorito, C; De Iorio, G; Casamassimi, Amelia; Perrotta, Silverio; Napoli, Claudio
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations 1-gen-2015 Perrotta, S; Di Iorgi, N; Ragione, Fd; Scianguetta, S; Borriello, A; Allegri, Ae; Ferraro, M; Napoli, F; Calcagno, A; Giaccardi, M; Cappa, M; Salerno, Mc; Cozzolino, D; Maghnie, M; Santoro, C.
Effects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload 1-gen-2015 Aydinok, Yesim; Kattamis, Antonis; Cappellini, M. Domenica; El Beshlawy, Amal; Origa, Raffaella; Elalfy, Mohsen; Kilinç, Yurdanur; Perrotta, Silverio; Karakas, Zeynep; Viprakasit, Vip; Habr, Dany; Constantinovici, Niculae; Shen, Junwu; Porter, John B.
Determination of deferasirox plasma concentrations: do gender, physical and genetic differences affect chelation efficacy? 1-gen-2015 Mattioli, F; Puntoni, M; Marini, V; Fucile, C; Milano, G; Robbiano, L; Perrotta, Silverio; Pinto, V; Martelli, A; Forni, Gl
Mostrati risultati da 141 a 160 di 268
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