Search Results - Fabio Corsolini
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1
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis by Mariarosaria Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo
Published 2007Artigo -
2
Cell Line and DNA Biobank From Patients Affected by Genetic Diseases by Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri
Published 2014Artigo -
3
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome by Silvia Ravera, Carlo Dufour, Simone Cesaro, Roberta Bottega, Michela Faleschini, Paola Cuccarolo, Fabio Corsolini, Cesare Usai, Marta Columbaro, Marco Cipolli, Anna Savoia, Paolo Degan, Enrico Cappelli
Published 2016Artigo -
4
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease by Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo
Published 2010Artigo -
5
Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients by Elisabeth T Korthof, Johanna Svahn, Régis Peffault de Latour, Paola Terranova, Hélène Moins‐Teisserenc, Gèrard Socié, Jean Soulier, Marleen Kok, Robbert G. M. Bredius, Maarten van Tol, Els C. M. Jol-Van Der Zijde, Angela Pistorio, Fabio Corsolini, Alessia Parodi, Florinda Battaglia, Vito Pistoia, Carlo Dufour, Enrico Cappelli
Published 2013Artigo -
6
Somatic, hematologic phenotype, long‐term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national databa... by Johanna Svahn, Francesca Bagnasco, Enrico Cappelli, Daniela Onofrillo, Silvia Caruso, Fabio Corsolini, Daniela De Rocco, Anna Savoia, Daniela Longoni, Marta Pillon, Nicoletta Marra, Ugo Ramenghi, Piero Farruggia, Anna Locasciulli, Carmen Addari, Carla Cerri, Elena Mastrodicasa, Gabriella Casazza, Federico Verzegnassi, Francesca Riccardi, Riccardo Haupt, Angelica Barone, Simone Cesaro, Chiara Cugno, Carlo Dufour
Published 2016Artigo -
7
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology by 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, U. Ramenghi, Walter Barberi, Fábio C. Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia
Published 2014Artigo
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Biology
Genetics
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DNA repair
Fanconi anemia
Internal medicine
Missense mutation
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Bone marrow
Bone marrow failure
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FANCA
Frameshift mutation
Haematopoiesis
Immunology
In vitro
Molecular biology
Nonsense mutation
Stem cell
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Anemia
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Biobank
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