Karla Cervantes-Luevano, Nicoletta Caronni, Maria Carmina Castiello, ..., Paolo Uva, Marita Bosticardo, . ..., Alessandro Aiuti, Anna Villa, Federica Benvenuti

Journal of Allergy and Clinical Immunology - february 2018 doi: 10.1016/j.jaci.2017.11.063

Publications en 2017

Peer-reviewed publications in International Journals

[2-CCF17]

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

Valentina Capo, Maria Carmina Castiello, Elena Fontana, ..., Paolo Uva, . ..., Anna Villa

Journal of Allergy and Clinical Immunology - 2017 doi: 10.1016/j.jaci.2017.11.015

[2-CPS17]

In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott–Aldrich Syndrome Protein-Deficient B Cells

Maria Carmina Castiello, Francesca Pala, Lucia Sereni, Elena Draghici, Donato Inverso, Aisha Sauer, Francesca Schena, Elena Fontana, Enrico Radaelli, Paolo Uva, Karla Cervantes-Luevano, Federica Benvenuti, Pietro Poliani , Matteo Iannacone, Elisabetta Traggiai, Anna Villa, Marita Bosticardo

Frontiers In Immunology - 2017 doi: 10.3389/fimmu.2017.00490

[2-PSU17]

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene

Eleonora Palagano, Mary Slatter, Paolo Uva, Ciro Menale, Anna Villa, Mario Abinun, Cristina Sobacchi

Bone - january 2017 doi: 10.1016/j.bone.2017.01.012

Various talks, works and publications

[6-PSM17]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Meeting, Marzo 2017, Riva del Garda - march 2017

Publications en 2016

Peer-reviewed publications in International Journals

[2-PSM16]

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Eleonora Palagano, Lucia Susani, Ciro Menale, Ugo Ramenghi, Massimo Berger, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research - 2016 doi: 10.1002/jbmr.2929

Peer-reviewed publications in international events

[4-PZM16]

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

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

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

[2-CSP15]

B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome

Maria Carmina Castiello, Samantha Scaramuzzi, Francesca Pala, Francesca Ferrua, Paolo Uva, Immacolata Brigida, Lucia Sereni, Mirjam van der Burg, Giorgio Ottaviano, Michael H. Albert, Maria Grazia Roncarolo, Luigi Naldini, Alessandro Aiuti, Anna Villa, Marita Bosticardo

Journal of Allergy and Clinical Immunology num. 3 - march 2015 doi: 10.1016/j.jaci.2015.01.035

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

[6-PSM15]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 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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