Zampino, Giuseppe
Dettaglio
Zampino, Giuseppe
ROMA - Dipartimento di Scienze della vita e sanità pubblica
Pubblicazioni
Risultati 1 - 20 di 119 (tempo di esecuzione: 0.001 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
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1 | 2011 | Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. | Alfieri, Paolo; Cesarini, L; Mallardi, Maria; Piccini, G; Caciolo, C; Leoni, Chiara; Mirante, N; Pantaleoni, F; Digilio, Mc; Gambardella, Maria Luigia; Tartaglia, Marco; Vicari, S; Mercuri, Eugenio Maria; Zampino, Giuseppe | - |
2 | 2011 | Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. | Herholz, J; Meloni, A; Marongiu, M; Chiappe, F; Deiana, M; Herrero, Cr; Zampino, Giuseppe; Hamamy, H; Zalloum, Y; Waaler, Pe; Crisponi, G; Crisponi, L; Rutsch, F. | - |
3 | 2011 | SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. | Lepri, F; De Luca, A; Stella, L; Rossi, C; Baldassarre, G; Pantaleoni, F; Cordeddu, V; Williams, B. J; Dentici, M. L; Caputo, Viviana; Venanzi, S; Bonaguro, M; Kavamura, I; Pilotta, A; Faienza, M. F; Stanzial, F; Faravelli, F; Gabrielli, O; Marino, B; Neri, Giovanni; Silengo, Mc; Ferrero, Gb; Torrente, I; Selicorni, A; Mazzanti, L; Zampino, Giuseppe; Digilio, Mc; Dallapiccola, B; Gelb, Bd; Tartaglia, Marco | - |
4 | 2000 | Teratogenic effects of antiepileptic drugs: use of an International Database on malformations and drug exposure (MADRE) | Zampino, Giuseppe; Mastroiacovo, Pierpaolo; Arpino, C. | - |
5 | 2006 | A newborn with multiple fractures as first presentation of infantile myofibromatosis | Buonuomo, Paola Sabrina; Ruggiero, Antonio; Zampino, Giuseppe; Maurizi, Palma; Attina', Giorgio; Riccardi, Riccardo | - |
6 | 2011 | Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) | Della Marca, Giacomo; Leoni, Chiara; Dittoni, Serena; Battaglia, Domenica Immacolata; Losurdo, Anna; Testani, Elisa; Colicchio, Salvatore; Gnoni, Valentina; Gambardella, Ml; Mariotti, Paolo; Alfieri, Paolo; Tartaglia, Marco; Zampino, Giuseppe | - |
7 | 2011 | Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity | Alfieri, Paolo; Cesarini, Laura; De Rose, Paola; Ricci, Diego; Selicorni, A; Menghini, D; Guzzetta, A; Baranello, Giovanni; Tinelli, F; Mallardi, Maria; Zampino, Giuseppe; Vicari, S; Atkinson, J; Mercuri, Eugenio Maria | - |
8 | 2014 | Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review | Testani, Elisa; Scarano, Emanuele; Leoni, Chiara; Dittoni, Serena; Losurdo, Anna; Colicchio, Salvatore; Gnoni, Valentina; Vollono, Catello; Zampino, Giuseppe; Paludetti, Gaetano; Della Marca, Giacomo | - |
9 | 2010 | A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME | Zampino, Giuseppe; Digilio, C; Stuppia, L; Pantaleoni, F; Tartaglia, Marco; Dallapiccola, Bruno; Dentici, M. L; Zenker, M. | - |
10 | 2008 | Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. | Hennies, Hc; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kuhnisch, J; Budde, B; Natebus, M; Brancati, F; Wilcox, Wr; Muller, D; Kaplan, Pb; Rajab, A; Zampino, Giuseppe; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; Clayton Smith, J; Tassabehji, M; Steinmann, B; Barr, Fa; Nurnberg, P; Wieacker, P; Mundlos, S. | - |
11 | 2009 | MUTATION OF SHOC2 PROMOTES ABERRANT PROTEIN N-MYRISTOYLATION AND CAUSES NOONAN-LIKE SUNDROME WITH LOOSE ANAGEN HAIR. | Cordeddu, V; Di Schiavi, E; Zampino, Giuseppe; Dallapiccola, Bruno; Gelb, Bd; Tartaglia, Marco | - |
12 | 2012 | Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair | Ferrero, Gb; Picco, G; Baldassarre, G; Flex, E; Isella, C; Cantarella, D; Corà, D; Chiesa, N; Crescenzio, N; Timeus, F; Merla, G; Mazzanti, L; Zampino, Giuseppe; Rossi, C; Silengo, M; Tartaglia, Marco; Medico, E. | - |
13 | 2012 | Dystonia in Costello syndrome | Dileone, M; Zampino, Giuseppe; Profice, Paolo; Pilato, Fabio; Leoni, Chiara; Ranieri, Federico; Capone, Fioravante; Tartaglia, Marco; Brown, P; Di Lazzaro, Vincenzo | - |
14 | 2010 | Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. | Martinelli, S; De Luca, A; Cavaliere, M. L; Zampino, Giuseppe; Gelb, Bd; Tartaglia, Marco | - |
15 | 2001 | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome | Tartaglia, Marco; Mehler, El; Goldberg, R; Zampino, Giuseppe; Brunner, Hg; Kremer, H; Van Der Burgt, I; Crosby, Ah; Ion, A; Jeffery, S; Kalidas, K; Patton, Ma; Kucherlapati, Rs; Gelb, Bd | - |
16 | 1995 | [Wolfram syndrome. Personal experience] | Marietti, Giovanni; Bizzarri, C; Perrone, Francesca; Zampino, Giuseppe; Conti, Guido; Falsini, Benedetto; Ricci, Benedetto | - |
17 | 2009 | OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME | Dickmann, Anna; Parrilla, Rosa; Salerni, Annabella; Savino, G; Vasta, Isabella; Zollino, Marcella; Petroni, Sergio; Zampino, Giuseppe | - |
18 | 2008 | SEARCH FOR GENOMIC IMBALANCES IN A COHORT OF 24 CORNELIA DE LANGE PATIENTS NEGATIVE FOR MUTATIONS IN THE NIPBL AND SMC1L1 GENES. | Gervasini, C; Pfundt, R; Zampino, Giuseppe; Larizza, L. | - |
19 | 2004 | A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome | Zollino, Marcella; Lecce, Rosetta; Selicorni, A; Murdolo, Marina; Mancuso, Irene; Marangi, Giuseppe; Zampino, Giuseppe; Garavelli, L; Ferrarini, A; Rocchi, Massimiliano; Opitz, Jm; Neri, Giovanni | - |
20 | 2007 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy | Pandit, B.; Sarkozy, A.; Pennacchio, L. A.; Carta, C.; Oishi, K.; Martinelli, S.; Pogna, E. A.; Schackwitz, W.; Ustaszewska, A.; Landstrom, A.; Bos, J. M.; Ommen, S. R.; Esposito, G.; Lepri, F.; Faul, C.; Mundel, P.; Lopez Siguero, J. P.; Tenconi, Romano; Selicorni, A.; Rossi, C.; Mazzanti, L.; Torrente, I.; Marino, Bruno; Digilio, M. C.; Zampino, Giuseppe; Ackerman, M. J.; Dallapiccola, Bruno; Tartaglia, Marco; Gelb, B. T. | - |