檢索結果 - Fabio Corsolini

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review 由 Alessandro La Rosa, Alessia Pepe, Barbara Tappino, Fabio Corsolini, Andrea Chiaro, Annalisa Madeo

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A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A 由 Enrico Cappelli, Nadia Bertola, Silvia Bruno, Paolo Degan, Stefano Regis, Fabio Corsolini, Barbara Banelli, Carlo Dufour, Silvia Ravera

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Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia 由 Nadia Bertola, Stefano Regis, Silvia Bruno, Andrea Nicola Mazzarello, Martina Serra, Michela Lupia, Federica Sabatini, Fabio Corsolini, Silvia Ravera, Enrico Cappelli

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miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability 由 Nadia Bertola, Stefano Regis, Vanessa Cossu, Matilde Balbi, Martina Serra, Fabio Corsolini, Cristina Bottino, Paolo Degan, Carlo Dufour, Filomena Pierri, Enrico Cappelli, Silvia Ravera

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Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 由 Manola Comar, Manola Comar, Daniela De Rocco, Enrico Cappelli, Nunzia Zanotta, Roberta Bottega, Johanna Svahn, Piero Farruggia, Aldo Misuraca, Fabio Corsolini, Carlo Dufour, Anna Savoia

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Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations 由 Daniele Ammeti, Serena Barozzi, Alessandro Pecci, Melania Eva Zanchetta, Edward Cesnik, Alessandra Ferlini, Mariabeatrice Sanchini, Laura Verga, Valeria Bozzi, Fabio Corsolini, Michela Faleschini, Anna Savoia, Stefania Bigoni

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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 由 Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

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A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 由 Ilaria Persico, Ilaria Persico, Ilaria Persico, Giorgia Fontana, Michela Faleschini, Melania Eva Zanchetta, Daniele Ammeti, Enrico Cappelli, Fabio Corsolini, Clara Mosa, Angela Guarina, Massimo Bogliolo, Massimo Bogliolo, Jordi Surrallés, Jordi Surrallés, Jordi Surrallés, Carlo Dufour, Piero Farruggia, Anna Savoia, Roberta Bottega

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P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE 由 Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell’orso, Stefano Regis, Francesca Fioredda, Michela Lupia, Marina Lanciotti, Elena Palmisani, Maria Carla Giarratana, Luca Arcuri, Fabio Corsolini, Marta Rusmini, Paolo Uva, Diego Vozzi, Isabella Ceccherini, Silvia Ravera, Enrico Cappelli, Carlo Dufour

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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 由 Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology 由 Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology 由 Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

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