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Browsing by Author Martinelli, Simone
Showing results 1 to 20 of 40
| Issue Date | Title | Author(s) | | 2005 | Acquired PTPN11 mutations occur rarely in adult patients with myelodyspalstic syndromes and chronic myelomonocytic leukemia | Loh, 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 |
| 2005 | Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia | Loh, 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 |
| 2007 | Activating mutations in SOS1 cause a distinctive form of Noonan syndrome | Tartaglia, 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 |
| 2007 | Activating PTPN11 mutation play a minor role in pediatric and adult solid tumors | Martinelli, 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 |
| 2005 | Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors | Martinelli, 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 |
| 1999 | Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV-or ionizing radiation -induced DNA damage | O'Discroll, M.; Martinelli, Simone; Ciotta, Carmela; Karran, Peter |
| 2005 | Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia | Goemans, 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 |
| 2008 | Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes | Martinelli, 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 |
| 2007 | Diverse mechanisms underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and Leopard syndromes | Martinelli, 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 |
| 2006 | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease | Tartaglia, 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; Foa, Robin; Emanuel, Peter D; Gelb, Bruce D |
| 2008 | Dysregulated ras signaling in Noonan syndrome and related disorders: disease gene discovery and functional studies | Carta, 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 |
| 2010 | Dysregulated RAS signalling in Noonan syndrome and related disorders: disease gene discovery and functional studies | Cordeddu, 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 |
| 2011 | Efficient 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 |
| 2007 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy | Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimihiko; Martinelli, Simone; Pogna, Edgar Allan; Tartaglia, Marco; et al |
| 2008 | Gain-of-function RAF1 mutations cause Noonan and Leopard syndromes with hypertrophic cardiomyopathy | Pandit, 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, M J; Dallapiccola, Bruno; Tartaglia, Marco; Gelb, Bruce D |
| 2007 | Gain-of-function RAF1 mutations cause Noonan and Leopard syndromes with hypertrophic cardiomyopathy | Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimihiko; Martinelli, Simone; Pogna, Edgar Allan; Pantaleoni, Francesca; Petrangeli, Valentina; Tartaglia, Marco; et al |
| 2007 | Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome | Tartaglia, Marco; Pennacchio, Len A; Zhao, Chen; Yadav, Kamlesh K; Fodale, Valentina; Sarkozy, Anna; Martinelli, Simone; Carta, Claudio; et al |
| 2004 | Genetic evidence for lineage-related and differentiation stage related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia | Martinelli, 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 |
| 2004 | Genetic evidence for lineage and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia | Tartaglia, 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 |
| 2005 | Germ-line and somatic PTPN11 mutations in human disease | Martinelli, Simone; Cordeddu, Viviana; Flex, Elisabetta; Carta, Claudio; Petrangeli, F; Pantaleoni, Francesca; Fodale, Valentina; Biondi, Andrea; Emanuel, Peter D; Schoch, Claudia; Foa, Robin; Zampino, Giuseppe; Sorcini, Mariella; Gelb, Bruce D; Tartaglia, Marco |
Showing results 1 to 20 of 40
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