Publications de Usala au CRS4


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5 publications Download the selection

Publications en 2014
Peer-reviewed publications in International Journals
[2-PCT14]
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Roberta Piras, Francesca Chiappe, Il Torracca, I Buers, Gianluca Usala, Andrea Angius, MA Akin, Lina Basel-Vanagaite, Fabrizio Benedicenti, E Chiodin, O El Assy, M Feingold-Zadok, J Guibert, B Kamien, CS Kasapkara, E Kiliç, K Boduroğlu, S Kurtoglu, AY Manzur, EE Onal, E Paderi, CH Roche, Russell Turner, S Unal, GE Utine, G Zanda, A Zankl, G Zampino, Giangiorgio Crisponi, Frank Rutsch
Human Mutation Wiley pages 424-33 vol. 35 (4) - march 2014  doi: 10.1002/humu.22522
 
Publications en 2013
Peer-reviewed publications in international events
[4-ASA13]
Post GWAS analysis of a BCLA intronic region to define its role in regulating HbF levels.
Francesca Anedda, Serena Sanna, Isadora Asunis, Gianluca Usala, F Danjou, A Caria, L Perseu, Alessia Loi, A Cabriolu, Eleonora Porcu, Giuseppina marini, Mara Marongiu, Sidore Carlo, Riccardo Berutti, Mauro Pala, Andrea Angius, Fabio Busonero, Andrea Maschio, Stefania Satta, F Demartis, L maccioni, R. Nagaraja, Gonçalo R. Abecasis, David Schlessinger, maria Serafina Ristaldi, Renzo Galanello, Paolo moi, Francesco Cucca, Manuela Uda
ESHG 2013, Paris, France, June 08-11. - 2013
 
Publications en 2012
Peer-reviewed publications in International Journals
[2-NPS12]
A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation
Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D. Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Zoledziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L. Longo, Edward Lakatta, Gonçalo R. Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca
PloS Genetics vol. 8 - january 2012  doi: 10.1371/journal.pgen.1002480
Peer-reviewed publications in international events
[4-DUP12]
Application of next generation sequencing to identify causative variant at the BCLA locus
F Danjou, Gianluca Usala, L Perseu, Sidore Carlo, Fabio Busonero, Riccardo Berutti, Frederic Reinier, Andrea Angius, Andrea Maschio, Christopher M. S. Jones, Franco Anni, Stefania Satta, F Demartis, N Ramaiah, Gonçalo R. Abecasis, David Schlessinger, Renzo Galanello, Francesco Cucca, Serena Sanna, Manuela Uda
ESHG 2012, Nürnberg, Germany, June 23 – 26 - 2012
[4-ASA12]
Post GWAS analysis of the BCL11A intronic region to define its role in regulating HbF levels
Francesca Anedda, Serena Sanna, Isadora Asunis, Gianluca Usala, F Danjou, L Perseu, A Cabriolu, A Caria, Loredana Porcu, Giuseppina marini, Mara Marongiu, Carlo Sidore, Riccardo Berutti, Mauro Pala, Andrea Angius, Fabio Busonero, Andrea Maschio, Stefania Satta, F Demartis, L maccioni, Alessandra Meloni, R. Nagaraja, Gonçalo R. Abecasis, David Schlessinger, maria Serafina Ristaldi, Renzo Galanello, Paolo moi, Francesco Cucca, Manuela Uda
ASHG 2012, San Francisco, USA, November 06-10. - 2012

5 publications Download the selection