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Browsing by Author Gelb, Bruce D

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Issue DateTitleAuthor(s)
2002Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeIon, Andra; Tartaglia, Marco; Song, Xiaoling; Kalidas, Kamini; van der Burgt, Ineke; Shaw, Adam; Ming, Jeffrey E.; Zampino, Giuseppe; Zackai, Elaine H.; Dean, John C.S.; Somer, Mirja; Parenti, Giancarlo; Crosby, Andrew H.; Patton, Michael A.; Gelb, Bruce D; Jeffery, Steve
2002Clinical characteristics of children with juvenile myelomonocytic leukemia (JMML) and germline or somatic PTPN11 mutations, Ras mutations or neurofibromatosis type 1Niemeyer, Charlotte M; Tartaglia, Marco; Buechner, Jochen; Jung, Andreas; Baumann, Irith; Harbott, Jochen; Rogge, Tim; Gerecke, Anja; Fischer, Alexandra; Gelb, Bruce D; Nollke, 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
2011Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromesDhandapany, Perundurai S; Fabris, Frank; Tonk, Rahul; Illaste, Ardo; Karakikes, Ioannis; Sorourian, Mehran; Sheng, Jipo; Hajjar, Roger J; Tartaglia, Marco; Sobie, Eric A; Lebeche, Djamel; Gelb, Bruce D
2004Disease-causing PTPN11 mutations have gain-of-function effects during frog embryogenesisPerdue, Nina R; Haremaki, Tomomi; Tartaglia, Marco; Lohr, Jamie L; Weinstein, Daniel C; Gelb, Bruce D
2010Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsTartaglia, Marco; Gelb, Bruce D
2010Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsTartaglia, Marco; Gelb, Bruce D
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
2007Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense change in Costello syndromePantaleoni, Francesca; Zampino, Giuseppe; Carta, Claudio; Neri, Cinzia; Cobellis, Gilda; Vasta, Isabella; Pogna, Edgar Allan; De Feo, Emma; Delogu, Angelica; Sarkozy, Anna; Atzeri, Francesca; Selicorni, Angelo; Rauen, Katherine A; Cytrynbaum, Cheryl S; Weksberg, Rosanna; Dallapiccola, Bruno; Ballabio, Andrea; Gelb, Bruce D; Neri, Giovanni; Tartaglia, Marco
2006Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense changes in Costello syndromePantaleoni, Francesca; Zampino, Giuseppe; Carta, Claudio; Neri, Cinzia; Cobellis, Gilda; Vasta, Isabella; Pogna, Edgar Allan; De Feo, Emma; Delogu, Angelica; Sarkozy, Anna; Atzeri, Francesca; Selicorni, Angelo; Rauen, Katherine A; Cytrynbaum, Cheryl S; Weksberg, Rosanna; Dallapiccola, Bruno; Ballabio, Andrea; Gelb, Bruce D; Neri, Giovanni; Tartaglia, Marco
2007Diversity, parental germline origin and phenotypic spectrum of de novo RAS missense changes in Costello syndromeZampino, Giuseppe; Pantaleoni, Francesca; Carta, Claudio; Cobellis, Gilda; Vasta, Isabella; Neri, Cinzia; Pogna, Edgar Allan; De Feo, Emma; Delogu, Angelica; Sarkozy, Anna; Atzeri, Francesca; Selicorni, Angelo; Rauen, Katherine A; Cytrynbaum, Cheryl S; Weksberg, Rosanna; Dallapiccola, Bruno; Ballabio, Andrea; Gelb, Bruce D; Neri, Giovanni; Tartaglia, Marco
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
2003Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromesTartaglia, Marco; Cotter, P.D.; Zampino, Giuseppe; Gelb, Bruce D; Rauen, Katherine A
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
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
2005Germ-line and somatic PTPN11 mutations in human diseaseTartaglia, Marco; Gelb, Bruce D
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