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Identification of novel mutations in patients with Shwachman-Diamond syndrome 1-gen-2005 Nicolis, Elena; Bonizzato, Alberto; Assael, Baroukh M; Cipolli, Marco
Celiac disease and obesity: need for nutritional follow-up after diagnosis. 1-gen-2010 Valletta, E; Fornaro, M; Cipolli, Marco; Conte, S; Bissolo, F; Danchielli, C.
A Prospective Haematological Survey Of Italian Patients Affected By Shwachman-Diamond Syndrome: Results Of A Ten Years Multicentric Study 1-gen-2011 D. Longoni, L. Sainati; Basso, G.; Biondi, A.; Fenu, S.; Francescato, S.; Zecca, M.; Bugarin, C.; Cipolli, Marco; Danesino, C.; Di Meglio, A; Tridello, G.; Leszl, A.; Maserati, E.; Minelli, A.; Nicolis, Elena; Pasquali, F.
Shwachman-Diamond syndrome 1-gen-2011 Dall'Oca, Carlo; Bondi, M.; Merlini, M.; Cipolli, Marco; Lavini, Franco; Bartolozzi, Pietro
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. 1-gen-2011 Ooi, Cy; Dorfman, R; Cipolli, Marco; Gonska, T; Castellani, Carlo; Keenan, K; Freedman, Sd; Zielenski, J; Berthiaume, Y; Corey, M; Schibli, S; Tullis, E; Durie, Pr
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. 1-gen-2011 Dror, Y; Donadieu, J; Koglmeier, J; Dodge, J; Toiviainen Salo, S; Makitie, O; Kerr, E; Zeidler, C; Shimamura, A; Shah, N; Cipolli, Marco; Kuijpers, T; Durie, P; Rommens, J; Siderius, L; Liu, Jm
Forkhead box protein 3 (FOXP3) mutations lead to increased TH17 cell numbers and regulatory T-cell instability. 1-gen-2011 Passerini, L; Olek, S; Di Nunzio, S; Barzaghi, F; Hambleton, S; Abinun, M; Tommasini, A; Vignola, S; Cipolli, Marco; Amendola, M; Naldini, L; Guidi, L; Cecconi, M; Roncarolo, Mg; Bacchetta, R.
International phase III trial of liprotamase efficacy and safety in pancreatic-insufficient cystic fibrosis patients. 1-gen-2011 Cipolli, Marco
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients. 1-gen-2012 Perobelli, Sandra; Nicolis, Elena; Assael, Baroukhmaurice; Cipolli, Marco
Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects 1-gen-2012 André, V; Longoni, D; Bresolin, S; Cappuzzello, C; Dander, E; Galbiati, M; Bugarin, C; Di Meglio, A; Nicolis, Elena; Maserati, E; Serafini, M; Warren, A. J; Te Kronnie, G; Cazzaniga, G; Sainati, L; Cipolli, Marco; Biondi, A; D'Amico, G.
Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Gene 1-gen-2013 Nicolis, Elena; Cipolli, Marco
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome 1-gen-2014 Nacci, Lucia; Danesino, Cesare; Sainati, Laura; Longoni, Daniela; Poli, Furio; Cipolli, Marco; Perobelli, Sandra; Nicolis, Elena; Cannioto, Zemira; Morini, Jacopo; Valli, Roberto; Pasquali, Francesco; Minelli, Antonella
GENETIC ANALYSIS OF THE SBDS GENE AMONG NON-ITALIAN PATIENTS 1-gen-2016 Nicolis, Elena; Minelli, Antonella; Danesino, Cesare; Perobelli, Sandra; Pintani, Emily; Pasquali, Francesco; Cesaro, Simone; Cipolli, Marco
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes 1-gen-2016 Bezzerri, Valentino; Vella, Antonio; Calcaterra, Elisa; Finotti, Alessia; Gasparello, Jessica; Gambari, Roberto; Assael, Baroukhmaurice; Cipolli, Marco; Sorio, Claudio
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients 1-gen-2016 Minelli, Antonella; Nacci, Lucia; Valli, Roberto; Pietrocola, Giampiero; Ramenghi, Ugo; Locatelli, Franco; Brescia, Letizia; Nicolis, Elena; Cipolli, Marco; Danesino, Cesare
Further Insights into the Hematological Disorders Observed in Shwachman-Diamond Syndrome: mTOR and STAT3 Hyper-Phosphorylation in CD4+ and CD8+ T Cells and Efficacy of Rapamycin Treatment 1-gen-2016 Bezzerri, Valentino; Vella, Antonio; Meneghelli, Ilaria; Cipolli, Marco; Sorio, Claudio
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 1-gen-2016 Ravera, Silvia; Dufour, Carlo; Cesaro, Simone; Bottega, Roberta; Faleschini, Michela; Cuccarolo, Paola; Corsolini, Fabio; Usai, Cesare; Columbaro, Marta; Cipolli, Marco; Savoia, Anna; Degan, Paolo; Cappelli, Enrico
291 Colon cancer screening program in adult CF patients: an Italian cross-sectional pilot study 1-gen-2017 Tedesco, S.; Fabrizzi, B.; Caporelli, N.; Marzioni, M.; Moretti, Patrizia; Rodella, L.; Castellani, C.; Cipolli, M.
Ataluren-driven Restoration of Shwachman-Bodian-Diamond Syndrome Protein Function in Shwachman-Diamond Syndrome Bone Marrow Cells 1-gen-2017 Bezzerri, Valentino; Bardelli, Donatella; Morini, Jacopo; Vella, Antonio; Cesaro, Simone; Sorio, Claudio; Biondi, Andrea; Danesino, Cesare; Farruggia, Piero; Assael, Baroukh Maurice; D'Amico, Giovanna; Cipolli, Marco
Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis 1-gen-2018 Bardelli, Donatella; Dander, Erica; Bugarin, Cristina; Cappuzzello, Claudia; Pievani, Alice; Fazio, Grazia; Pierani, Paolo; Corti, Paola; Farruggia, Piero; Dufour, Carlo; Cesaro, Simone; Cipolli, Marco; Biondi, Andrea; D'Amico, Giovanna
Mostrati risultati da 1 a 20 di 34
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