DANESINO, CESARE

DANESINO, CESARE  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 1-gen-1992 Mosna, G; Fattore, S; Tubiello, G; Brocca, S; Trubia, M; Gianazza, E; Gatti, R; Danesino, Cesare; Minelli, Antonella; Piantanida, M.
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 1-gen-2009 Corre, T; Schuetter, J; Bione, S; Marozzi, A; Persani, L; Rossetti, R; Torricelli, F; Danesino, Cesare; Giotti, I; Vogt, P; Toniolo, D; Italian Network for the study of Ovarian, Dysfunction
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 1-gen-2009 T., Corre; J., Schuettler; S., Bione; A., Marozzi; L., Persani; R., Rossetti; F., Torricelli; I., Giotti; P., Vogt; D., Toniolo; I. N., forBiondi M; Bruni, V; Brigante, C; Cisternino, Mariangela; Colombo, I; Crosignani, Pg; D'Avanzo, Mg; Dalprà, L; Danesino, Cesare; Di Prospero, F; Donti, E; Falorni, A; Fusi, F; Lanzi, R; Larizza, Daniela; Locatelli, N; Madaschi, S; Maghnie, M; Marzotti, S; Migone, N; Nappi, Rossella; Palli, D; Patricelli, Mg; Pisani, C; Prontera, P; Petraglia, F; Renieri, A; Ricca, I; Ripamonti, A; Russo, G; Russo, S; Tibiletti, Mg; Tonacchera, M; Vegetti, W; Villa, N; Vineis, P; Zuffardi, Orsetta
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 1-gen-1984 Maraschio, Paola; Danesino, Cesare; LO CURTO, Francesco; Zuffardi, Orsetta; Dalla Fior, T; Pedrotti, D.
A novel mutation and novel features in Nijmegen breakage syndrome. 1-gen-2001 Maraschio, Paola; Danesino, Cesare; Antoccia, A; Ricordy, R; Tanzarella, C; Varon, R; Reis, A; Besana, D; Guala, A; Tiepolo, Luciano
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. 1-gen-2004 Boxall, S; Mccormick, J; Beverley, P; Strobel, S; DE FILIPPI, Paola; Dawes, R; Klersy, C; Clementi, Rita; DE JULI, E; Ferster, A; Wallace, D; Aricò, M; Danesino, Cesare; Tchilian, E.
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 1-gen-2014 Nacci, Lucia; Danesino, Cesare; Sainati, Laura; Longoni, Daniela; Poli, Furio; Cipolli, Marco; Perobelli, Sandra; Nicolis, Elena; Cannioto, Zemira; Morini, Jacopo; Valli, Roberto; Pasquali, Francesco; Minelli, Antonella
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 1-gen-2002 Clementi, R; Emmi, L; Maccario, R; Liotta, F; Moretta, L; Danesino, Cesare; Aricò, M.
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 1-gen-2007 Repetto, A; Bini, P; Ravaglia, S; Pichiecchio, A; Costa, A; Alfonsi, E; Lozza, A; Danesino, C; Minelli, A; Rossi, M; Moglia, A
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 1-gen-2007 Repetto, Alessandra; Bini, P; Ravaglia, S; Rossi, Miriam; Costa, Alfredo; Alfonsi, E; Lozza, A; Danesino, Cesare; Minelli, Antonella; Rossi, Miriam; Moglia, Arrigo
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. 1-gen-2010 Maccabelli, G; Picchiecchio, A; Guala, Andrea; Ponzio, M; Palesi, Fulvia; Maranzana Rt, D; Poloni, Gu; Bastianello, Stefano; Danesino, Cesare
Agenesis of corpus callosumwith mosaicism 46,XY/47,XY extra ring chromosome 1-gen-1980 Zamboni, G; Bernardi, F; Danesino, Cesare; Marcello del Majno, U; Beghini, G; Della Bernardina, A.
Analisi di linkage in 4 famiglie con Rendu Weber Osler. 1-gen-2000 Danesino, Cesare; Olivieri, Carla; Dely, G; Mira, Eugenio
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 1-gen-2007 Olivieri, Carla; Pagella, F; Semino, L; Lanzarini, L; Valacca, C; Pilotto, A; Corno, S; Scappaticci, S; Manfredi, G; Buscarini, E; Danesino, Cesare
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients 1-gen-2015 Guala, Andrea; Spunton, Marianna; Mainardi, Paola Cerruti; Emmig, Uta; Acucella, Gabriela; Danesino, Cesare
Angiotensin converting enzyme gene deletion allele is idenpendently and strongly associated with coronary atherosclerosis and myocardial infraction. 1-gen-1995 Arbustini, Eloisa; Grasso, M; Fasani, R; Klersy, C; Diegoli, M; Porcu, E; Banchieri, N; Fortina, P; Danesino, Cesare; Specchia, G.
The angiotensin-converting enzyme insertion/deletion polymorphysm modifies the clinical outcome in patients with Pompe disease. 1-gen-2010 De Filippi, P; Ravaglia, SABRINA MARIA; Bembi, B; Costa, Alfredo; Moglia, Arrigo; Piccolo, G; Repetto, Alessandra; Dardis, A; Greco, G; Ciana, G; Canevari, F; Danesino, Cesare
Antenatal sex detrmination 1-gen-1984 Simoni, G; Brambati, B; Danesino, Cesare; Fraccaro, Marco
Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. 1-gen-2012 Pagella, F; Matti, E; Chu, F; Pusateri, A; Tinelli, C; Olivieri, Carla; Canzonieri, Cecilia; Boeri, Laura; Ornati, F; Danesino, Cesare
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? 1-gen-2013 Guala, Andrea; P., Massa; A. M., Foscolo; F., Olivero; L. V., Maldergem; Danesino, Cesare