Sfoglia per Autore
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE
2000-01-01 Minelli, Antonella; Maserati, E; Giudici, G; Tosi, S; Olivieri, Carla; Bonvini, L.; DE FILIPPI, Paola; Biondi, A.; LO CURTO, F.; Pasquali, F.; Danesino, Cesare
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis.
2004-01-01 Boxall, S; Mccormick, J; Beverley, P; Strobel, S; DE FILIPPI, Paola; Dawes, R; Klersy, C; Clementi, Rita; DE JULI, E; Ferster, A; Wallace, D; Aricò, M; Danesino, Cesare; Tchilian, E.
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects.
2004-01-01 Maserati, E; Minelli, Antonella; Menna, G; Cecchini, Mp; Bernardo, Me; Rossi, G; DE FILIPPI, Paola; LO CURTO, Francesco; Danesino, Cesare; Locatelli, Franco; Paquali, F.
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis
2006-01-01 DE FILIPPI, Paola; Badulli, C.; Cuccia, Mariaclara; DE SILVESTRI, A.; Dametto, E.; Pasi, A.; Garaventa, A.; DEL PREVER, A. B.; Todesco, A.; Trizzino, A.; Danesino, Cesare; Martinetti, M.; Arico, M.
Dietary treatment in adult-onset type II glycogenosis.
2006-01-01 Ravaglia, SABRINA MARIA; Rossi, Miriam; Rossi, M.; DE FILIPPI, Paola; Minelli, Antonella; Moglia, Arrigo; Danesino, Cesare
Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization
2007-01-01 Ravaglia, SABRINA MARIA; Repetto, Alessandra; Bini, P; Costa, Alfredo; Rossi, Miriam; Lozza, A; Alfonsi, E; Rossi, Miriam; DE FILIPPI, Paola; Fratino, P; Moglia, Arrigo; Danesino, Cesare
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance.
2007-01-01 Guala, Andrea; Carrera, P.; Pastore, G.; Somaschini, M.; Ancora, G.; Faldella, G.; DE FILIPPI, Paola; Ferrero, F.; Guarino, R.; Danesino, Cesare
Ptosis as a feature of late-onset glycogenosis type II.
2007-01-01 Ravaglia, S.; Repetto, A.; DE FILIPPI, Paola; Danesino, Cesare
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia
2007-01-01 Zecca, M.; Bergamaschi, G.; Kratz, C.; Bergstrer, E.; Danesino, Cesare; DE FILIPPI, Paola; Hasle, H.; Lisini, D.; Locatelli, Franco; Pession, A.; Sainati, L.; Stary', J.; Trebo, M.; VAN DEN HEUVEL EIBRINK, M.; Wojcik, D.; Niemeyer, C. M.
Deletion of PAX9 and oligodontia: a third family and review of the literature.
2008-01-01 Guala, A; Falco, V; Breedveld, G; DE FILIPPI, Paola; Danesino, Cesare
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family
2008-01-01 Mevio, E; Sbrocca, M; Mullace, M; Vettorello, M; Puppin, E; DE FILIPPI, Paola; Olivieri, Carla; Minelli, Antonella; Danesino, Cesare
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis.
2010-01-01 Ravaglia, SABRINA MARIA; Danesino, Cesare; Moglia, Arrigo; Costa, Alfredo; Cena, Hellas; Maccarini, Laura; Carlucci, A; Pichiecchio, Anna; Bini, Paola; DE FILIPPI, Paola; Rossi, Miriam
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
2011-01-01 DE FILIPPI, Paola; Zecca, M; Novara, Francesca; Lisini, D; Maserati, E; Pasquali, F; Rosti, V; Carlo Stella, C; Zavras, N; Cagioni, Claudia; Zuffardi, Orsetta; Pagliara, D; Danesino, Cesare; Locatelli, Franco
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?
2012-01-01 Ravaglia, SABRINA MARIA; DE FILIPPI, Paola; Rossi, Miriam; Ponzio, M; Saeidi Garaghani, K; Poloni, Gu; Bini, P; Danesino, Cesare; Pichiecchio, Anna
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.
2014-01-01 S., Cesaro; DE FILIPPI, Paola; A. D., Meglio; A., Leszl; S., Donska; A., Zaccaron; Cagioni, Claudia; R., Galavotti; Danesino, Cesare; F., Aprili; C., Cugno; G. t., Kronnie; M., Zecca; S., Bresolin
Genotype-phenotype correlation in Pompe disease, a step forward.
2014-01-01 DE FILIPPI, Paola; Saeidi, K.; Ravaglia, SABRINA MARIA; Dardis, A.; Angelini, C.; Mongini, T.; Morandi, L.; Moggio, M.; Muzio, A. D.; Filosto, M.; Bembi, B.; Giannini, F.; Marrosu, G.; Rigoldi, M.; Tonin, P.; Servidei, S.; Siciliano, G.; Carlucci, A.; Scotti, Claudia; Comelli, MARIO ANGELO; Toscano, A.; Danesino, Cesare
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.
2014-01-01 Parenti, G; Fecarotta, S; la Marca, G; Rossi, B; Ascione, S; Donati, Ma; Morandi, Lo; Ravaglia, SABRINA MARIA; Pichiecchio, A; Ombrone, D; Sacchini, M; Pasanisi, Mb; DE FILIPPI, Paola; Danesino, Cesare; Della Casa, R; Romano, A; Mollica, C; Rosa, M; Agovino, T; Nusco, E; Porto, C; Andria, G.
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
2015-01-01 Montagnese, Federica; Barca, E.; Musumeci, O.; Mondello, S.; Migliorato, A.; Ciranni, A.; Rodolico, C.; DE FILIPPI, Paola; Danesino, Cesare; Toscano, Antonio
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group
2016-01-01 Bresolin, Silvia; DE FILIPPI, Paola; Vendemini, Francesca; D'Alia, Mirko; Zecca, Marco; Meyer, Lueder H.; Danesino, Cesare; Locatelli, Franco; Masetti, Riccardo; Basso, Giuseppe; te Kronnie, Geertruy
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies
2017-01-01 Pichiecchio, A.; Sacco, S.; De Filippi, P.; Caverzasi, E.; Ravaglia, S.; Bastianello, S.; Danesino, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE | 1-gen-2000 | Minelli, Antonella; Maserati, E; Giudici, G; Tosi, S; Olivieri, Carla; Bonvini, L.; DE FILIPPI, Paola; Biondi, A.; LO CURTO, F.; Pasquali, F.; Danesino, Cesare | |
| Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. | 1-gen-2004 | Boxall, S; Mccormick, J; Beverley, P; Strobel, S; DE FILIPPI, Paola; Dawes, R; Klersy, C; Clementi, Rita; DE JULI, E; Ferster, A; Wallace, D; Aricò, M; Danesino, Cesare; Tchilian, E. | |
| Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. | 1-gen-2004 | Maserati, E; Minelli, Antonella; Menna, G; Cecchini, Mp; Bernardo, Me; Rossi, G; DE FILIPPI, Paola; LO CURTO, Francesco; Danesino, Cesare; Locatelli, Franco; Paquali, F. | |
| Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis | 1-gen-2006 | DE FILIPPI, Paola; Badulli, C.; Cuccia, Mariaclara; DE SILVESTRI, A.; Dametto, E.; Pasi, A.; Garaventa, A.; DEL PREVER, A. B.; Todesco, A.; Trizzino, A.; Danesino, Cesare; Martinetti, M.; Arico, M. | |
| Dietary treatment in adult-onset type II glycogenosis. | 1-gen-2006 | Ravaglia, SABRINA MARIA; Rossi, Miriam; Rossi, M.; DE FILIPPI, Paola; Minelli, Antonella; Moglia, Arrigo; Danesino, Cesare | |
| Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization | 1-gen-2007 | Ravaglia, SABRINA MARIA; Repetto, Alessandra; Bini, P; Costa, Alfredo; Rossi, Miriam; Lozza, A; Alfonsi, E; Rossi, Miriam; DE FILIPPI, Paola; Fratino, P; Moglia, Arrigo; Danesino, Cesare | |
| Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. | 1-gen-2007 | Guala, Andrea; Carrera, P.; Pastore, G.; Somaschini, M.; Ancora, G.; Faldella, G.; DE FILIPPI, Paola; Ferrero, F.; Guarino, R.; Danesino, Cesare | |
| Ptosis as a feature of late-onset glycogenosis type II. | 1-gen-2007 | Ravaglia, S.; Repetto, A.; DE FILIPPI, Paola; Danesino, Cesare | |
| JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia | 1-gen-2007 | Zecca, M.; Bergamaschi, G.; Kratz, C.; Bergstrer, E.; Danesino, Cesare; DE FILIPPI, Paola; Hasle, H.; Lisini, D.; Locatelli, Franco; Pession, A.; Sainati, L.; Stary', J.; Trebo, M.; VAN DEN HEUVEL EIBRINK, M.; Wojcik, D.; Niemeyer, C. M. | |
| Deletion of PAX9 and oligodontia: a third family and review of the literature. | 1-gen-2008 | Guala, A; Falco, V; Breedveld, G; DE FILIPPI, Paola; Danesino, Cesare | |
| Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family | 1-gen-2008 | Mevio, E; Sbrocca, M; Mullace, M; Vettorello, M; Puppin, E; DE FILIPPI, Paola; Olivieri, Carla; Minelli, Antonella; Danesino, Cesare | |
| Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. | 1-gen-2010 | Ravaglia, SABRINA MARIA; Danesino, Cesare; Moglia, Arrigo; Costa, Alfredo; Cena, Hellas; Maccarini, Laura; Carlucci, A; Pichiecchio, Anna; Bini, Paola; DE FILIPPI, Paola; Rossi, Miriam | |
| The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. | 1-gen-2011 | DE FILIPPI, Paola; Zecca, M; Novara, Francesca; Lisini, D; Maserati, E; Pasquali, F; Rosti, V; Carlo Stella, C; Zavras, N; Cagioni, Claudia; Zuffardi, Orsetta; Pagliara, D; Danesino, Cesare; Locatelli, Franco | |
| Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis? | 1-gen-2012 | Ravaglia, SABRINA MARIA; DE FILIPPI, Paola; Rossi, Miriam; Ponzio, M; Saeidi Garaghani, K; Poloni, Gu; Bini, P; Danesino, Cesare; Pichiecchio, Anna | |
| Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. | 1-gen-2014 | S., Cesaro; DE FILIPPI, Paola; A. D., Meglio; A., Leszl; S., Donska; A., Zaccaron; Cagioni, Claudia; R., Galavotti; Danesino, Cesare; F., Aprili; C., Cugno; G. t., Kronnie; M., Zecca; S., Bresolin | |
| Genotype-phenotype correlation in Pompe disease, a step forward. | 1-gen-2014 | DE FILIPPI, Paola; Saeidi, K.; Ravaglia, SABRINA MARIA; Dardis, A.; Angelini, C.; Mongini, T.; Morandi, L.; Moggio, M.; Muzio, A. D.; Filosto, M.; Bembi, B.; Giannini, F.; Marrosu, G.; Rigoldi, M.; Tonin, P.; Servidei, S.; Siciliano, G.; Carlucci, A.; Scotti, Claudia; Comelli, MARIO ANGELO; Toscano, A.; Danesino, Cesare | |
| A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. | 1-gen-2014 | Parenti, G; Fecarotta, S; la Marca, G; Rossi, B; Ascione, S; Donati, Ma; Morandi, Lo; Ravaglia, SABRINA MARIA; Pichiecchio, A; Ombrone, D; Sacchini, M; Pasanisi, Mb; DE FILIPPI, Paola; Danesino, Cesare; Della Casa, R; Romano, A; Mollica, C; Rosa, M; Agovino, T; Nusco, E; Porto, C; Andria, G. | |
| Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment | 1-gen-2015 | Montagnese, Federica; Barca, E.; Musumeci, O.; Mondello, S.; Migliorato, A.; Ciranni, A.; Rodolico, C.; DE FILIPPI, Paola; Danesino, Cesare; Toscano, Antonio | |
| Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group | 1-gen-2016 | Bresolin, Silvia; DE FILIPPI, Paola; Vendemini, Francesca; D'Alia, Mirko; Zecca, Marco; Meyer, Lueder H.; Danesino, Cesare; Locatelli, Franco; Masetti, Riccardo; Basso, Giuseppe; te Kronnie, Geertruy | |
| Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies | 1-gen-2017 | Pichiecchio, A.; Sacco, S.; De Filippi, P.; Caverzasi, E.; Ravaglia, S.; Bastianello, S.; Danesino, C. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile