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Titolo Data di pubblicazione Autore(i) File
ROBO2 gene variants are associated with familial vesicoureteral reflux 1-gen-2008 BERTOLI AVELLA, A.; Conte, M.; Punzo, F.; DE GRAAF, B.; Lama, G.; LA MANNA, A.; Polito, C.; Grassia, C.; Nobili, Bruno; Rambaldi, Pier Francesco; Oostra, B.; Perrotta, Silverio
The HIF2A gene in familial erythrocytosis 1-gen-2008 Perrotta, Silverio; DELLA RAGIONE, Fulvio
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity 1-gen-2008 Conte, Ml; BERTOLI AVELLA, Am; DE GRAAF, Bm; Punzo, F; Lama, G; LA MANNA, A; Grassia, C; Rambaldi, Pier Francesco; Oostra, Ba; Perrotta, Silverio
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 1-gen-2009 Schwarz, K.; Iolascon, A.; Verissimo, F.; Trede, N.; Horsley, W.; Chen, W.; Paw, B.; Hopfner, K.; Holzmann, K.; Russo, R.; Esposito, M.; Spano, D.; DE FALCO, L.; Heinrich, K.; Joggerst, B.; Rojewski, M.; Perrotta, Silverio; Denecke, J.; Pannicke, U.; Delaunay, J.; Pepperkok, R.; Heimpel, H.
{beta}-spectrinBari: a truncated {beta}-chain responsible for dominant hereditary spherocytosis. 1-gen-2009 Perrotta, Silverio; DELLA RAGIONE, Fulvio; Rossi, Francesca; Avvisati, R.; DI PINTO, D.; DE MIERI, G.; Scianguetta, S.; Mancusi, S.; DE FALCO, L.; Marano, V.; Iolascon, A.
The endovanilloid/endocannabinoid system in human osteoclasts: Possible involvement in bone formation and resorption 1-gen-2009 Rossi, F.; Siniscalco, D.; Luongo, L.; De Petrocellis, L.; Bellini, G.; Petrosino, S.; Torella, M.; Santoro, C.; Nobili, B.; Perrotta, S.; Di Marzo, V.; Maione, S.
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin 1-gen-2009 Savoia, A; Noris, P; Perrotta, Silverio; Punzo, F; Rocco, Dd; Oostra, Ba; Balduini, Cl
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene 1-gen-2010 Russo, R; Esposito, Mr; Asci, R; Gambale, A; Perrotta, Silverio; Ramenghi, U; Forni, Gl; Uygun, V; Delaunay, J; Iolascon, A.
Frequency of congenital dyserythropoietic anemias in Europe 1-gen-2010 Heimpel, H; Matuschek, A; Ahmed, M; BADER MEUNIER, B; Colita, A; Delaunay, J; Garcon, L; Gilsanz, F; Goede, J; Högel, J; Kohne, E; Leichtle, R; Munoz, J; Perrotta, Silverio; Piscopo, C; Renella, R; Schwarz, K; SMOLENSKA SYM, G; Wickramasinghe, S; Zanella, A; Iolascon, A.
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia 1-gen-2010 Punzo, F; Mientjes, Ej; Rohe, Cf; Scianguetta, S; Amendola, G; Oostra, Ba; BERTOLI AVELLA, Am; Perrotta, Silverio
Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study 1-gen-2010 Gattermann, N; Finelli, C; Porta, Md; Fenaux, P; Ganser, A; GUERCI BRESLER, A; Schmid, M; Taylor, K; Vassilieff, D; Habr, D; Domokos, G; Roubert, B; Rose, C; EPIC study, Investigators; Perrotta, Silverio
Improved T2* assessment in liver iron overload by magnetic resonance imaging 1-gen-2010 Palmieri, F; DI SALVO, Giovanni; Perrotta, Silverio; Ragozzino, A.
Iron chelation therapy with deferasirox in patients with aplastic anemia: a subgroup analysis of 116 patients from the EPIC trial 1-gen-2010 Lee, Jw; Yoon, Ss; Shen, Zx; Ganser, A; Hsu, Hc; Habr, D; Domokos, G; Roubert, B; Porter, Jb; EPIC study, Investigators; Perrotta, Silverio
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship 1-gen-2010 Iolascon, A; Russo, R; Esposito, Mr; Asci, R; Piscopo, C; Perrotta, Silverio; FÉNÉANT THIBAULT, M; Garçon, L; Delaunay, J.
Lessons learned from the H1N1 pandemic: The need to improve systematic vaccination in Sickle Cell Disease children. A multi center survey in Italy. 1-gen-2011 Colombatti, R; Perrotta, Silverio; Masera, N; Palazzi, G; Notarangelo, Ld; Pusiol, A; Bonetto, E; De Zen, L; Nocerino, A; Samperi, P; Russo Mancuso, G; Sainati, L.
Endocannabinoid Research Group (ERG), Italy. The endovanilloid/endocannabinoid system: a new potential target for osteoporosis therapy. 1-gen-2011 Rossi, Francesca; Bellini, Giulia; Luongo, Livio; Torella, Marco; Mancusi, S; DE PETROCELLIS, L; Petrosino, S; Siniscalco, D; Orlando, P; Scafuro, Mariantonietta; Colacurci, Nicola; Perrotta, Silverio; Nobili, Bruno; DI MARZO, V; Maione, Sabatino
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
Variable clinical presentations in a family with neurohypophysial diabetes insipidus. 1-gen-2011 Passeri, E; Tufano, A; Perrotta, Silverio; Ambrosi, B; Corbetta, S.
Mutations in the 5' UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2. 1-gen-2011 Pippucci, T; Savoia, A; Perrotta, Silverio; Pujol Moix, N; Noris, P; Castegnaro, G; Pecci, A; Gnan, C; Punzo, F; Marconi, C; Gherardi, S; Loffredo, G; De Rocco, D; Scianguetta, S; Barozzi, S; Magini, P; Bozzi, V; Dezzani, L; Di Stazio, M; Ferraro, M; Perini, G; Seri, M; Balduini, C. L.
Reliability of EMA Binding Test in the Diagnosis of Hereditary Spherocytosis in Italian Patients 1-gen-2011 D'Alcamo, E; Agrigento, V; Sclafani, S; Vitrano, A; Cuccia, L; Maggio, A; Perrotta, Silverio; Capra, M; Rigano, P.
Mostrati risultati da 101 a 120 di 267
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