Sfoglia per Titolo
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
2012 Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Domenica Immacolata; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
2012 Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
2018 Bauer, C. K.; Calligari, P.; Radio, F. C.; Caputo, V.; Dentici, M. L.; Falah, N.; High, F.; Pantaleoni, F.; Barresi, S.; Ciolfi, A.; Pizzi, S.; Bruselles, A.; Person, R.; Richards, S.; Cho, M. T.; Claps Sepulveda, D. J.; Pro, S.; Battini, R.; Zampino, G.; Digilio, M. C.; Bocchinfuso, G.; Dallapiccola, B.; Stella, L.; Tartaglia, M.
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
2001 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
Mutations in rpoB sequences of Actinobacteria: a confounding factor in conjugal transfer experiments
2016 Puglisi, Edoardo; Guerrieri, Maria Chiara; Morelli, Lorenzo
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
2013 Sabatelli, Mario; Moncada, A; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
2013 Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
2014 Johnson, J. O.; Glynn, S. M.; Raphael Gibbs, J.; Nalls, M. A.; Sabatelli, Mario; Restagno, G.; Drory, V. E.; Chio, A.; Rogaeva, E.; Traynor, B. J.
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia
1996 Dianzani, I; Garelli, E; Dompè, C; Crescenzio, N; Locatelli, Franco; Schilirò, G; Castaman, G; Bagnara, G P; Olivieri, N F; Gabutti, V; Ramenghi, U
Mutations in the KEAP1-NFE2L2 Pathway Define a Molecular Subset of Rapidly Progressing Lung Adenocarcinoma
2019 Goeman, F.; De Nicola, F.; Scalera, S.; Sperati, F.; Gallo, E.; Ciuffreda, L.; Pallocca, M.; Pizzuti, L.; Krasniqi, E.; Barchiesi, G.; Vici, P.; Barba, M.; Buglioni, S.; Casini, B.; Visca, P.; Pescarmona, E.; Mazzotta, M.; De Maria Marchiano, Ruggero; Fanciulli, M.; Ciliberto, G.; Maugeri-Sacca, M.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
2014 Johnson, Jo; Pioro, Ep; Boehringer, A; Chia, R; Feit, H; Renton, Ae; Pliner, Ha; Abramzon, Y; Marangi, Giuseppe; Winborn, Bj; Gibbs, Jr; Nalls, Ma; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, Rw; Malaspina, A; Sidle, Kc; Fratta, P; Harms, Mb; Baloh, Rh; Pestronk, A; Weihl, Cc; Rogaeva, E; Zinman, L; Drory, Ve; Borghero, G; Mora, G; Calvo, A; Rothstein, Jd; Drepper, C; Sendtner, M; Singleton, Ab; Taylor, Jp; Cookson, Mr; Restagno, G; Sabatelli, Mario; Bowser, R; Chiò, A; Traynor, Bj; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Lattante, Serena
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma
2003 Bruttini, Mirella; Longo, Ilaria; Frezzotti, Paolo; Ciappetta, Rossella; Randazzo, Alessandro; Orzalesi, Nicola; Fumagalli, Elena; Caporossi, Aldo; Frezzotti, Renato; Renieri, Alessandra
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
2018 Palagano, E.; Zuccarini, G.; Prontera, P.; Borgatti, Renato; Stangoni, G.; Elisei, S.; Mantero, S.; Menale, C.; Forlino, A.; Uva, P.; Oppo, M.; Vezzoni, P.; Villa, A.; Merlo, G. R.; Sobacchi, C.
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
2018 Palagano, E.; Zuccarini, G.; Prontera, P.; Borgatti, Renato; Stangoni, G.; Elisei, S.; Mantero, S.; Menale, C.; Forlino, A.; Uva, P.; Oppo, M.; Vezzoni, P.; Villa, A.; Merlo, G. R.; Sobacchi, C.
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
2013 Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E.
Mutations of CD79A, CD79B and EZH2 genes in immunodeficiency-related non-Hodgkin lymphomas
2011 Capello, Daniela; Gloghini, Annunziata; Martini, Maurizio; Spina, Michele; Tirelli, Umberto; Bertoni, Francesco; Rinaldi, Andrea; Morra, Enrica; Rambaldi, Alessandro; Sinigaglia, Fabiola; Larocca, Luigi Maria; Carbone, Antonino
Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases
2012 Voso, Maria Teresa; Fabiani, Emiliano; Fianchi, Luana; Falconi, Giulia; Criscuolo, Marianna; Santangelo, Rosaria; Chiusolo, Patrizia; Betti, Silvia; D'Alo', Francesco; Hohaus, Stefan; De Stefano, Valerio; Leone, Giuseppe
Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases
2013 Voso, Maria Teresa; Fabiani, Emiliano; Fianchi, Luana; Falconi, Giulia; Criscuolo, Marianna; Santangelo, Rosaria; Chiusolo, Patrizia; Betti, Silvia; D'Alo', Francesco; Hohaus, Stefan; De Stefano, Valerio; Leone, Giuseppe
Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases
2013 De Stefano, Valerio; Fabiani, E; Fianchi, L; Falconi, G; Criscuolo, M; Santangelo, R; Chiusolo, Patrizia; Betti, S; D'Alo', F; Hohaus, Stefan; De Stefano, V; Leone, G.
Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia
2012 Rossi, D; Rasi, S; Fabbri, G; Spina, V; Fangazio, M; Forconi, F; Marasca, R; Laurenti, Luca; Bruscaggin, A; Cerri, M; Monti, S; Cresta, S; Famà, R; De Paoli, L; Bulian, P; Gattei, V; Guarini, A; Deaglio, S; Capello, D; Rabadan, R; Pasqualucci, L; Dalla Favera, R; Foà, R; Gaidano, G.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2012 | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype | Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Domenica Immacolata; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe | |
1-gen-2012 | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype | Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario | |
1-gen-2018 | Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome | Bauer, C. K.; Calligari, P.; Radio, F. C.; Caputo, V.; Dentici, M. L.; Falah, N.; High, F.; Pantaleoni, F.; Barresi, S.; Ciolfi, A.; Pizzi, S.; Bruselles, A.; Person, R.; Richards, S.; Cho, M. T.; Claps Sepulveda, D. J.; Pro, S.; Battini, R.; Zampino, G.; Digilio, M. C.; Bocchinfuso, G.; Dallapiccola, B.; Stella, L.; Tartaglia, M. | |
1-gen-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 | |
1-gen-2016 | Mutations in rpoB sequences of Actinobacteria: a confounding factor in conjugal transfer experiments | Puglisi, Edoardo; Guerrieri, Maria Chiara; Morelli, Lorenzo | |
1-gen-2013 | Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis | Sabatelli, Mario; Moncada, A; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella | |
1-gen-2013 | Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis | Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella | |
1-gen-2014 | Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis | Johnson, J. O.; Glynn, S. M.; Raphael Gibbs, J.; Nalls, M. A.; Sabatelli, Mario; Restagno, G.; Drory, V. E.; Chio, A.; Rogaeva, E.; Traynor, B. J. | |
1-gen-1996 | Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia | Dianzani, I; Garelli, E; Dompè, C; Crescenzio, N; Locatelli, Franco; Schilirò, G; Castaman, G; Bagnara, G P; Olivieri, N F; Gabutti, V; Ramenghi, U | |
1-gen-2019 | Mutations in the KEAP1-NFE2L2 Pathway Define a Molecular Subset of Rapidly Progressing Lung Adenocarcinoma | Goeman, F.; De Nicola, F.; Scalera, S.; Sperati, F.; Gallo, E.; Ciuffreda, L.; Pallocca, M.; Pizzuti, L.; Krasniqi, E.; Barchiesi, G.; Vici, P.; Barba, M.; Buglioni, S.; Casini, B.; Visca, P.; Pescarmona, E.; Mazzotta, M.; De Maria Marchiano, Ruggero; Fanciulli, M.; Ciliberto, G.; Maugeri-Sacca, M. | |
1-gen-2014 | Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis | Johnson, Jo; Pioro, Ep; Boehringer, A; Chia, R; Feit, H; Renton, Ae; Pliner, Ha; Abramzon, Y; Marangi, Giuseppe; Winborn, Bj; Gibbs, Jr; Nalls, Ma; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, Rw; Malaspina, A; Sidle, Kc; Fratta, P; Harms, Mb; Baloh, Rh; Pestronk, A; Weihl, Cc; Rogaeva, E; Zinman, L; Drory, Ve; Borghero, G; Mora, G; Calvo, A; Rothstein, Jd; Drepper, C; Sendtner, M; Singleton, Ab; Taylor, Jp; Cookson, Mr; Restagno, G; Sabatelli, Mario; Bowser, R; Chiò, A; Traynor, Bj; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Lattante, Serena | |
1-gen-2003 | Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma | Bruttini, Mirella; Longo, Ilaria; Frezzotti, Paolo; Ciappetta, Rossella; Randazzo, Alessandro; Orzalesi, Nicola; Fumagalli, Elena; Caporossi, Aldo; Frezzotti, Renato; Renieri, Alessandra | |
1-gen-2018 | Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 | Palagano, E.; Zuccarini, G.; Prontera, P.; Borgatti, Renato; Stangoni, G.; Elisei, S.; Mantero, S.; Menale, C.; Forlino, A.; Uva, P.; Oppo, M.; Vezzoni, P.; Villa, A.; Merlo, G. R.; Sobacchi, C. | |
1-gen-2018 | Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 | Palagano, E.; Zuccarini, G.; Prontera, P.; Borgatti, Renato; Stangoni, G.; Elisei, S.; Mantero, S.; Menale, C.; Forlino, A.; Uva, P.; Oppo, M.; Vezzoni, P.; Villa, A.; Merlo, G. R.; Sobacchi, C. | |
1-gen-2013 | Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France | Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E. | |
1-gen-2011 | Mutations of CD79A, CD79B and EZH2 genes in immunodeficiency-related non-Hodgkin lymphomas | Capello, Daniela; Gloghini, Annunziata; Martini, Maurizio; Spina, Michele; Tirelli, Umberto; Bertoni, Francesco; Rinaldi, Andrea; Morra, Enrica; Rambaldi, Alessandro; Sinigaglia, Fabiola; Larocca, Luigi Maria; Carbone, Antonino | |
1-gen-2012 | Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases | Voso, Maria Teresa; Fabiani, Emiliano; Fianchi, Luana; Falconi, Giulia; Criscuolo, Marianna; Santangelo, Rosaria; Chiusolo, Patrizia; Betti, Silvia; D'Alo', Francesco; Hohaus, Stefan; De Stefano, Valerio; Leone, Giuseppe | |
1-gen-2013 | Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases | Voso, Maria Teresa; Fabiani, Emiliano; Fianchi, Luana; Falconi, Giulia; Criscuolo, Marianna; Santangelo, Rosaria; Chiusolo, Patrizia; Betti, Silvia; D'Alo', Francesco; Hohaus, Stefan; De Stefano, Valerio; Leone, Giuseppe | |
1-gen-2013 | Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases | De Stefano, Valerio; Fabiani, E; Fianchi, L; Falconi, G; Criscuolo, M; Santangelo, R; Chiusolo, Patrizia; Betti, S; D'Alo', F; Hohaus, Stefan; De Stefano, V; Leone, G. | |
1-gen-2012 | Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia | Rossi, D; Rasi, S; Fabbri, G; Spina, V; Fangazio, M; Forconi, F; Marasca, R; Laurenti, Luca; Bruscaggin, A; Cerri, M; Monti, S; Cresta, S; Famà, R; De Paoli, L; Bulian, P; Gattei, V; Guarini, A; Deaglio, S; Capello, D; Rabadan, R; Pasqualucci, L; Dalla Favera, R; Foà, R; Gaidano, G. |
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