Sfoglia per Afferenza ROMA - Dipartimento di Scienze della vita e sanità pubblica
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 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 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 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 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 of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group
2016 Bresolin, S.; De Filippi, P.; Vendemini, F.; D'Alia, M.; Zecca, M.; Meyer, L. H.; Danesino, C.; Locatelli, Franco; Masetti, R.; Basso, G.; te Kronnie, G.
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis
2013 Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A.
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events
2013 Aretz, S; Tricarico, R; Papi, L; Spier, I; Pin, E; Horpaopan, S; Lucci Cordisco, Emanuela; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A; Genuardi, Maurizio
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
2013 Genuardi, Maurizio; Aretz, S; Tricarico, R; Papi, L; Spier, L; Pin, E; Horpaopan, S; Lucci Cordisco, L; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A.
MYCN is an immunosuppressive oncogene dampening the expression of ligands for NK-cell-activating receptors in human high-risk neuroblastoma
2017 Brandetti, E.; Veneziani, I.; Melaiu, O.; Pezzolo, A.; Castellano, A.; Boldrini, R.; Ferretti, E.; Fruci, D.; Moretta, L.; Pistoia, V.; Locatelli, Franco; Cifaldi, L.
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation
2023 Bregalda, A.; Carducci, C.; Viscomi, Maria Teresa; Pierige, F.; Biagiotti, S.; Menotta, M.; Biancucci, F.; Pascucci, T.; Leuzzi, V.; Magnani, M.; Rossi, L.
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation
2023 Bregalda, Alessandro; Carducci, Claudia; Viscomi, Maria Teresa; Pierigè, Francesca; Biagiotti, Sara; Menotta, Michele; Biancucci, Federica; Pascucci, Tiziana; Leuzzi, Vincenzo; Magnani, Mauro; Rossi, Luigia
Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study
2020 Willasch, A. M.; Peters, C.; Sedlacek, P.; Dalle, J. -H.; Kitra-Roussou, V.; Yesilipek, A.; Wachowiak, J.; Lankester, A.; Prete, A.; Hamidieh, A. A.; Ifversen, M.; Buechner, J.; Krivan, G.; Hamladji, R. -M.; Diaz-de-Heredia, C.; Skorobogatova, E.; Michel, G.; Locatelli, Franco; Bertaina, A.; Veys, P.; Dupont, S.; Or, R.; Gungor, T.; Aleinikova, O.; Sufliarska, S.; Sundin, M.; Rascon, J.; Kaare, A.; Nemet, D.; Fagioli, F.; Klingebiel, T. E.; Styczynski, J.; Bierings, M.; Nagy, K.; Abecasis, M.; Afanasyev, B.; Ansari, M.; Vettenranta, K.; Alseraihy, A.; Chybicka, A.; Robinson, S.; Bertrand, Y.; Kupesiz, A.; Ghavamzadeh, A.; Campos, A.; Pichler, H.; Dalissier, A.; Labopin, M.; Corbacioglu, S.; Balduzzi, A.; Galimard, J. -E.; Bader, P.
Myelodysplastic syndromes in children
2018 Galaverna, F.; Ruggeri, A.; Locatelli, Franco
Myelodysplastic syndromes: Recent advances
2001 Alessandrino, E. P.; Amadori, S.; Cazzola, M.; Locatelli, Franco; Mecucci, C.; Morra, E.; Saglio, G.; Visani, G.; Tura, S.
Myelodysplastic syndromes: the pediatric point of view
1995 Locatelli, Franco; Zecca, M; Pession, A; Maserati, E; De Stefano, P; Severi, F
Myelomeningocele: the management of the associated hydrocephalus
2013 Tamburrini, Gianpiero; Frassanito, P; Iakovaki, K; Pignotti, F; Rendeli, Claudia; Murolo, D; Di Rocco, C.
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients
2016 Fiorillo, Claudio; Astrea, G.; Savarese, Mariarosaria; Cassandrini, D.; Brisca, G.; Trucco, F.; Pedemonte, M.; Trovato, R.; Ruggiero, L.; Vercelli, L.; D'Amico, A.; Tasca, Giorgio; Pane, Marika; Fanin, M.; Bello, L.; Broda, P.; Musumeci, O.; Rodolico, C.; Messina, S.; Vita, G. L.; Sframeli, M.; Gibertini, S.; Morandi, L.; Mora, M.; Maggi, L.; Petrucci, Andrea; Massa, Raffael; Grandis, M.; Toscano, A.; Pegoraro, E.; Mercuri, Eugenio Maria; Bertini, Enrico Silvio; Mongini, T.; Santoro, L.; Nigro, V.; Minetti, C.; Santorelli, F. M.; Bruno, C.
| 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-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-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-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-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-2016 | Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group | Bresolin, S.; De Filippi, P.; Vendemini, F.; D'Alia, M.; Zecca, M.; Meyer, L. H.; Danesino, C.; Locatelli, Franco; Masetti, R.; Basso, G.; te Kronnie, G. | |
| 1-gen-2013 | MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis | Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A. | |
| 1-gen-2013 | MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events | Aretz, S; Tricarico, R; Papi, L; Spier, I; Pin, E; Horpaopan, S; Lucci Cordisco, Emanuela; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A; Genuardi, Maurizio | |
| 1-gen-2013 | MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. | Genuardi, Maurizio; Aretz, S; Tricarico, R; Papi, L; Spier, L; Pin, E; Horpaopan, S; Lucci Cordisco, L; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A. | |
| 1-gen-2017 | MYCN is an immunosuppressive oncogene dampening the expression of ligands for NK-cell-activating receptors in human high-risk neuroblastoma | Brandetti, E.; Veneziani, I.; Melaiu, O.; Pezzolo, A.; Castellano, A.; Boldrini, R.; Ferretti, E.; Fruci, D.; Moretta, L.; Pistoia, V.; Locatelli, Franco; Cifaldi, L. | |
| 1-gen-2023 | Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation | Bregalda, A.; Carducci, C.; Viscomi, Maria Teresa; Pierige, F.; Biagiotti, S.; Menotta, M.; Biancucci, F.; Pascucci, T.; Leuzzi, V.; Magnani, M.; Rossi, L. | |
| 1-gen-2023 | Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation | Bregalda, Alessandro; Carducci, Claudia; Viscomi, Maria Teresa; Pierigè, Francesca; Biagiotti, Sara; Menotta, Michele; Biancucci, Federica; Pascucci, Tiziana; Leuzzi, Vincenzo; Magnani, Mauro; Rossi, Luigia | |
| 1-gen-2020 | Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study | Willasch, A. M.; Peters, C.; Sedlacek, P.; Dalle, J. -H.; Kitra-Roussou, V.; Yesilipek, A.; Wachowiak, J.; Lankester, A.; Prete, A.; Hamidieh, A. A.; Ifversen, M.; Buechner, J.; Krivan, G.; Hamladji, R. -M.; Diaz-de-Heredia, C.; Skorobogatova, E.; Michel, G.; Locatelli, Franco; Bertaina, A.; Veys, P.; Dupont, S.; Or, R.; Gungor, T.; Aleinikova, O.; Sufliarska, S.; Sundin, M.; Rascon, J.; Kaare, A.; Nemet, D.; Fagioli, F.; Klingebiel, T. E.; Styczynski, J.; Bierings, M.; Nagy, K.; Abecasis, M.; Afanasyev, B.; Ansari, M.; Vettenranta, K.; Alseraihy, A.; Chybicka, A.; Robinson, S.; Bertrand, Y.; Kupesiz, A.; Ghavamzadeh, A.; Campos, A.; Pichler, H.; Dalissier, A.; Labopin, M.; Corbacioglu, S.; Balduzzi, A.; Galimard, J. -E.; Bader, P. | |
| 1-gen-2018 | Myelodysplastic syndromes in children | Galaverna, F.; Ruggeri, A.; Locatelli, Franco | |
| 1-gen-2001 | Myelodysplastic syndromes: Recent advances | Alessandrino, E. P.; Amadori, S.; Cazzola, M.; Locatelli, Franco; Mecucci, C.; Morra, E.; Saglio, G.; Visani, G.; Tura, S. | |
| 1-gen-1995 | Myelodysplastic syndromes: the pediatric point of view | Locatelli, Franco; Zecca, M; Pession, A; Maserati, E; De Stefano, P; Severi, F | |
| 1-gen-2013 | Myelomeningocele: the management of the associated hydrocephalus | Tamburrini, Gianpiero; Frassanito, P; Iakovaki, K; Pignotti, F; Rendeli, Claudia; Murolo, D; Di Rocco, C. | |
| 1-gen-2016 | MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients | Fiorillo, Claudio; Astrea, G.; Savarese, Mariarosaria; Cassandrini, D.; Brisca, G.; Trucco, F.; Pedemonte, M.; Trovato, R.; Ruggiero, L.; Vercelli, L.; D'Amico, A.; Tasca, Giorgio; Pane, Marika; Fanin, M.; Bello, L.; Broda, P.; Musumeci, O.; Rodolico, C.; Messina, S.; Vita, G. L.; Sframeli, M.; Gibertini, S.; Morandi, L.; Mora, M.; Maggi, L.; Petrucci, Andrea; Massa, Raffael; Grandis, M.; Toscano, A.; Pegoraro, E.; Mercuri, Eugenio Maria; Bertini, Enrico Silvio; Mongini, T.; Santoro, L.; Nigro, V.; Minetti, C.; Santorelli, F. M.; Bruno, C. |
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