Eleonora Palagano, Giulia Zuccarini, Stefano Mantero, Daniele Conte, Andrea Angius, Paolo Uva, Paolo Prontera, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi

43rd Annual European Calcified Tissue Society Congress - april 2016 doi: 10.1530/boneabs.5.P244

Various talks, works and publications

[6-CMU16]

Lack of MIR-127 down-regulation in the transition from hematopoietic stem cells to multi-potent progenitors leads to pancytopenia and defective self-renewal

Laura Crisafulli, Sharon Muggeo, Paolo Uva, Lucia Susani, Michael Cleary, Paolo Vezzoni, Bernhard Gentner, Francesca Ficara

Poster presentation at 21st Congress of European Hematology Association, June 9-12 2016, Copenhagen - june 2016

Publications en 2015

Peer-reviewed publications in International Journals

[2-PBP15]

Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Paolo Uva, Wim Van Hul, Eveline Boudin, Andrea Superti-Furga, Flavio Faletra, Agostino Nocerino, Matteo C. Ferrari, Marta Monari, Alessandro Montanelli, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research Wiley - 2015 doi: 10.1002/jbmr.2517

[2-PCS15]

Chromosome transplantation as a novel approach for correcting complex genomic disorders

Marianna Paulis, Alessandra Castelli, Lucia Susani, Michela Lizier, Irina Lagutina, Maria Luisa Focarelli, Camilla Recordati, Paolo Uva, Francesca Faggioli, Tui Neri, Eugenio Scanziani, Cesare Galli, Franco Lucchini, Anna Villa, Paolo Vezzoni

Oncotarget pages 35218-35230 vol. 6(34) - november 2015 doi: 10.18632/oncotarget.6143

Various talks, works and publications

[6-PCS15]

Chromosome transplantation: a novel strategy for correcting genomic disorders resistant to classical gene therapy approaches

Marianna Paulis, Alessandra Castelli, Lucia Susani, Michela Lizier, Irina Lagutina, Camilla Recordati, Paolo Uva, Francesca Faggioli, Tui Neri, Eugenio Scanziani, Cesare Galli, Franco Lucchini, Anna Villa, Paolo Vezzoni

Poster presentation at ISSCR Annual Meeting 2015, 24-27 June, Stockolm - 2015

Publications en 2014

Peer-reviewed publications in International Journals

[2-PPO14]

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro, Ashok Vellodi, Blanca Gener, Isabel Liano-Rivas, Jamal Raza, Irum Aatta, Paolo Vezzoni, Andrea Superti-Fuga, Anna Villa, Cristina Sobacchi

Bone Elsevier pages 122-126 vol. 59 num. 59 - february 2014 doi: 10.1016/j.bone.2013.11.014

Various talks, works and publications

[6-PPS14]

New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations

Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

Publications en 2013

Peer-reviewed publications in International Journals

[2-PFS13]

SNX10 mutations define a subgroup of human Autosomal Recessive Osteopetrosis with variable clinical severity.

Alessandra Pangrazio, Anders Fasth, Andrea Sbardellati, Paul J. Orchard, Kimberly A. Kasow, Jamal Raza, Canan Albayrak, Davut Albayrak, Olivier M. Vanakker, Barbara De Moerloose, Ashok Vellodi, Luigi D. Notarangelo, Claire Schlack, Gabriele Strauss, Jorn-Sven Kuhl, Elena Caldana, Nadia Lo Iacono, Lucia Susani, Uwe Kornak, Ansgar Schulz, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research Wiley pages 1041–1049 vol. 28 num. 5 - april 2013 doi: 10.1002/jbmr.1849

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