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Publications en 2013

Peer-reviewed publications in International Journals

[2-OTC13]

Warehousing re-annotated cancer genes for biomarker meta-analysis

Massimiliano Orsini, Antonella Travaglione, Enrico Capobianco

Computer Methods and Programs in Biomedicine pages 166 – 180 vol. 111 num. 1 - july 2013 doi: 10.1016/j.cmpb.2013.03.010

[2-PCL13]

Automated and traceable processing for large-scale high-throughput sequencing facilities

Luca Pireddu, Gianmauro Cuccuru, Luca Lianas, Matteo Vocale, Giorgio Fotia, Gianluigi Zanetti

EMBnet.journal pages 23--24 vol. 19 Supplement A - june 2013
issn: 2226-6089 doi: 10.14806/ej.19.A.626

[2-ELM13]

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Teresa Esposito, RA Lea, BH Maher, D Moses, HC Cox, S Magliocca, Andrea Angius, DR Nyholt, T Titus, T Kay, NA Gray, NP Rastaldi, A Pamham, Fernando Gianfrancesco, LR Griffiths

Human Molecular Genetics springer pages 3654-66 vol. 22 (18) - may 2013 doi: 10.1093/hmg/ddt215

[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

[2-KCB13]

Identification of Calcium binding sites on calsequestrin 1 and its implications to polymerization

Amit Kumar, Harapriya Chakravarty, Naresh C. Bal, Tuniki Balaraju, Nivedita Jena, Gauri Misra, Chandralata Bal, Enrico Pieroni, Muthu Periasamy , Ashoke Sharon

Mol. BioSyst. PSC Publishing - april 2013 doi: 10.1039/C3MB25588C

[2-SCC13]

Insulin-like growth factor 1 (IGF-1) expression is up-regulated in lymphoblastoid cell lines of lithium responsive bipolar disorder patients.

Alessio Squassina, Marta Costa, Donatella Congiu, Andrea Angius, Valeria Deiana, Caterina Chillotti, Giovanni Severino, Stefano Calza, Maria Del Zompo

Pharmacol Research elsevier pages 1-7 vol. 73 - april 2013 doi: 10.1016/j.phrs.2013.04.004

[2-KCA13]

Structural and Dynamical Insights on HLA-DR2 Complexes That Confer Susceptibility to Multiple Sclerosis in Sardinia: A Molecular Dynamics Simulation Study

Amit Kumar, Eleonora Cocco, Luigi Atzori, Maria Giovanna Marrosu, Enrico Pieroni

PLos ONE vol. PLoS ONE 8(3): e5971 - march 2013 doi: 10.1371/journal.pone.0059711

[2-KHB13]

Lattice Energy Calculation - A Quick Tool for Screening of Cocrystals and Estimation of Relative Solubility. Case of Flavonoids

Liudmila Kuleshova, Detlef W.M. Hofmann, Roland Boese

Chemical Physics Letters Elsevier pages 26--32 vol. 564 num. 28.03.13 - march 2013 doi: 10.1016/j.cplett.2013.02.008

[2-CMC13]

Interaction between HLA-DRB1-DQB1 Haplotypes in Sardinian Multiple Sclerosis Population

Eleonora Cocco, Raffaele Murru, Gianna Costa, Amit Kumar, Enrico Pieroni

Plos One Plos One vol. PLoS ONE 8(4): e5979 - march 2013 doi: 10.1371/journal.pone.0059790

[2-BPC13]

Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.

Ginevra Biino, Gianfranco Parati, Maria Pina Concas, Mauro Adamo, Andrea Angius, Simona Vaccargiu, Mario Pirastu

PLoS One PLoS One. 2013;8(3):e59612 pages 1-8 vol. 8 (3) num. e59612 - march 2013 doi: 10.1371/journal.pone.0059612

[2-TFC13]

Realtime Telemedicine in Pediatric Cardiology

Riccardo Triunfo, Francesca Frexia, Francesco Cabras, Carlo Buttu, Valeria Lecca, Stefano Gessa, Sabrina Montis, Paola Neroni, Roberto Tumbarello

eTELEMED 2013, The Fifth International Conference on eHealth, Telemedicine, and Social Medicine IARIA pages 320 --326 - february 2013
issn: 2308-4359
isbn: 978-1-61208-252-3

[2-MGG13]

A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells

AN McMurchy , J Gillies , MC Gizzi , M Riba , JM Garcia-Manteiga , D Cittaro , D Lazarevic , S Di Nunzio , Ignazio Piras, Alessandro Bulfone, Maria Grazia Roncarolo, E Stupka , R Bacchetta , MK Levings

Blood pages 1265-75 vol. 121 num. 8 - february 2013 doi: 10.1182/blood-2012-05-431023

[2-GEM13]