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Browsing by Author Martinelli, Simone

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Issue DateTitleAuthor(s)
2005Acquired PTPN11 mutations occur rarely in adult patients with myelodyspalstic syndromes and chronic myelomonocytic leukemiaLoh, Mignon L; Martinelli, Simone; Cordeddu, Viviana; Reynolds, Melissa G; Vattikuti, Shashaank; Wulfert, Micheal; Niemeyer, Charlotte M; Beran, Miloslav E; Strom, Sara; Haas, Peter; Sorcini, Mariella; Estey, Elihu H; Lubbert, Micheal; Gattermann, Norbert; Tartaglia, Marco
2005Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemiaLoh, Mignon L; Martinelli, Simone; Cordeddu, Viviana; Reynolds, Melissa G; Vattikuti, Shashaank; Lee, Connie M.; Wulfert, Micheal; Germing, Ulrich; Haas, Peter; Niemeyer, Charlotte M; Beran, Miloslav E; Strom, Sara; Lubbert, Micheal; Sorcini, Mariella; Estey, Elihu H; Gattermann, Norbert; Tartaglia, Marco
2007Activating mutations in SOS1 cause a distinctive form of Noonan syndromeTartaglia, Marco; Pennacchio, Len A; Fodale, Valentina; Lepri, Francesca Romana; Dentici, Maria Luisa; Sarkozy, Anna; Martinelli, Simone; Carta, Claudio; Pantaleoni, Francesca; Petrangeli, Valentina; Cordeddu, Viviana; et al
2007Activating PTPN11 mutation play a minor role in pediatric and adult solid tumorsMartinelli, Simone; Carta, Claudio; Flex, Elisabetta; Binni, Francesco; Lucci Cordisco, Emanuela; Moretti, Sonia; Puxeddu, Efisio; Tonacchera, Massimo; Pinchera, Aldo; McDowell, Heather P; Dominici, Carlo; Rosolen, Angelo; Di Rocco, Concezio; Riccardi, Riccardo; Celli, Paolo; Picardo, Mauro; Genuardi, Maurizio; Grammatico, Paola; Sorcini, Mariella; Tartaglia, Marco
2005Activating PTPN11 mutations play a minor role in pediatric and adult solid tumorsMartinelli, Simone; Carta, Claudio; Flex, Elisabetta; Binni, Francesco; Lucci Cordisco, Emanuela; Puxeddu, Efisio; Tonacchera, Massimo; Pinchera, Aldo; Dominici, Carlo; Rosolen, Angelo; Riccardi, Riccardo; Sorcini, Mariella; Genuardi, Maurizio; Grammatico, Paola; Tartaglia, Marco
1999Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV-or ionizing radiation -induced DNA damageO'Discroll, M.; Martinelli, Simone; Ciotta, Carmela; Karran, Peter
2012Counteracting effects operating on Src-homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndromeMartinelli, Simone; Nardozza, Aurelio P; Delle Vigne, Silvia; Sabetta, Gilda; Torreri, Paola; Bocchinfuso, Gianfranco; Flex, Elisabetta; Venanzi, Serenella; Palleschi, Antonio; Gelb, Bruce D; Cesareni, Gianni; Stella, Lorenzo; Castagnoli, Luisa; Tartaglia, Marco
2005Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemiaGoemans, Bianca F; Zwaan, Ch M; Martinelli, Simone; Harrell, P; de Lange, D; Carta, Claudio; Reinhardt, D; Hahlen, Karel; Creutzig, U; Tartaglia, Marco; Heinrich, MC; Kaspers, G J L
2008Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesMartinelli, Simone; Torreri, Paola; Tinti, Michele; Stella, Lorenzo; Bocchinfuso, Gianfranco; Flex, Elisabetta; Grottesi, Alessandro; Ceccarini, Marina; Palleschi, Antonio; Cesareni, Gianni; Castagnoli, Luisa; Petrucci, Tamara Corinna; Gelb, Bruce D; Tartaglia, Marco
2007Diverse mechanisms underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and Leopard syndromesMartinelli, Simone; Torreri, Paola; Tinti, Michele; Stella, Lorenzo; Bocchinfuso, Gianfranco; Flex, Elisabetta; Grottesi, Alessandro; Palleschi, Antonio; Cesareni, Gianni; Gelb, Bruce D; Castagnoli, Luisa; Petrucci, Tamara Corinna; Tartaglia, Marco
2006Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseTartaglia, Marco; Martinelli, Simone; Stella, Lorenzo; Bocchinfuso, Gianfranco; Flex, Elisabetta; Cordeddu, Viviana; Zampino, Giuseppe; van der Burgt, Ineke; Palleschi, Antonio; Petrucci, Tamara Corinna; Sorcini, Mariella; Schoch, Claudia; Foà, Robin; Emanuel, Peter D; Gelb, Bruce D
2008Dysregulated ras signaling in Noonan syndrome and related disorders: disease gene discovery and functional studiesCarta, Claudio; Cordeddu, Viviana; Flex, Elisabetta; Fodale, Valentina; Pantaleoni, Francesca; Petrangeli, Valentina; Torreri, Paola; Lepri, Francesca Romana; Zampino, Giuseppe; Digilio, Maria Cristina; Castagnoli, Luisa; Petrucci, Tamara Corinna; Sarkozy, Anna; Gelb, Bruce D; Martinelli, Simone; Stella, Lorenzo; Dallapiccola, Bruno; Tartaglia, Marco
2010Dysregulated RAS signalling in Noonan syndrome and related disorders: disease gene discovery and functional studiesCordeddu, Viviana; Martinelli, Simone; Carta, Claudio; Fodale, Valentina; Flex, Elisabetta; Pantaleoni, Francesca; Sarkozy, Anna; Lepri, Francesca; Zampino, Giuseppe; Digilio, Maria Cristina; Mazzanti, Laura; Ferrero, Giovanni Battista; Rossi, Cesare; Stella, Lorenzo; Pennacchio, Len A; Gelb, Bruce D; Dallapiccola, Bruno; Tartaglia, Marco
2011Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C Motta, Marialetizia; Tatti, Massimo; Martinelli, Simone; Camerini, Serena; Scarpa, Susanna; Crescenzi, Marco; Tartaglia, Marco; Salvioli, Rosa Maria
2008Gain-of-function RAF1 mutations cause Noonan and Leopard syndromes with hypertrophic cardiomyopathyPandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Martinelli, Simone; Schackwitz, Wendy; Ustaszewska, A; Esposito, Giorgia; Lepri, Francesca Romana; Mundel, Peter; Rossi, Cesare; Mazzanti, Laura; Marino, Benedetto; Digilio, Maria Cristina; Zampino, Giuseppe; Ackerman, Michael J; Dallapiccola, Bruno; Tartaglia, Marco; Gelb, Bruce D
2007Gain-of-function RAF1 mutations cause Noonan and Leopard syndromes with hypertrophic cardiomyopathyPandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimihiko; Martinelli, Simone; Pogna, Edgar Allan; Pantaleoni, Francesca; Petrangeli, Valentina; Tartaglia, Marco; et al
2007Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyPandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimihiko; Martinelli, Simone; Pogna, Edgar Allan; Tartaglia, Marco; et al
2007Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeTartaglia, Marco; Pennacchio, Len A; Zhao, Chen; Yadav, Kamlesh K; Fodale, Valentina; Sarkozy, Anna; Martinelli, Simone; Carta, Claudio; et al
2004Genetic evidence for lineage-related and differentiation stage related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaMartinelli, Simone; Cazzaniga, Giovanni; Cordeddu, Viviana; Iavarone, Ivano; Spinelli, Monica; Palmi, Chiara; Carta, Claudio; Pession, Andrea; Aricò, Maurizio; Masera, Giuseppe; Basso, Giuseppe; Gelb, Bruce D; Sorcini, Mariella; Biondi, Andrea; Tartaglia, Marco
2004Genetic evidence for lineage and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaTartaglia, Marco; Martinelli, Simone; Cazzaniga, Giovanni; Cordeddu, Viviana; Spinelli, Monica; Palmi, Chiara; Carta, Claudio; Pession, Andrea; Aricò, Maurizio; Masera, Giuseppe; Basso, Giuseppe; Sorcini, Mariella; Gelb, Bruce D; Biondi, Andrea
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