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Publications en 2013

Peer-reviewed publications in International Journals

[2-CVS13]

Conformational Changes of Congenital FVII Variants with Defective Binding to Tissue Factor ARG304GLN (FVII Padua), ARG 304TRP (FVII Nagoya) and ARG79GLN (FVII Shinjo or Tondabayashi)

Andrea Cristiani, Silvia Vettore, L Sambado , Alessandro Bulfone, Stefano Moro

Int J Biomed Sci pages 185-93 vol. 9 num. 4 - december 2013

[2-SPN13]

SeqPig: simple and scalable scripting for large sequencing data sets in Hadoop

André Schumacher, Luca Pireddu, Matti Niemenmaa, Aleksi Kallio, Eija Korpelainen, Gianluigi Zanetti, Keijo Heljanko

Bioinformatics Oxford University Press - october 2013 doi: 10.1093/bioinformatics/btt601

[2-BPC13]

Functional significance of the novel H-RAS gene mutation M72I in a patient with medullary thyroid cancer

S Barollo, R Pezzani, Andrea Cristiani, L Bertazza, B Rubin , Alessandro Bulfone, MR Pelizzo , F Torresan, F Mantero , G Pennelli , Stefano Moro, C Mian

Exp Clin Endocrinol Diabetes pages 546-50 vol. 121 num. 9 - october 2013 doi: 10.1055/s-0033-1351299

[2-1AJ13]

Integrative annotation of variants from 1092 humans: application to cancer genomics.

. 1000 Genomes Project Consortiu, Andrea Angius, Christopher M. S. Jones, Frederic Reinier

Science Science pages 1-11 vol. 342 num. 6154 - october 2013 doi: 10.1126/science.1235587

[2-OSC13]

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrú, Maristella Steri, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Magdalena Zoledziewska, Fabio Busonero, Antonella Mulas, Matteo Floris, Wieslawa Mentzen, Silvana Urru, michele marongiu, Stefania Olla, MG Piras, Lobina M., Andrea Maschio, Maristella Pitzalis, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Francesca Deidda, Manuela Oppo, Rosella Pilu, Frederic Reinier, Riccardo Berutti, Luca Pireddu, Ilenia Zara, Eleonora Porcu, Alan Kwong , Christine Brennan , Brendan Tarrier, Hyun Kang , Robert Lyons, Sergio Uzzau, Rossano Atzeni, Maria Valentini, Firinu D., Lidia Leoni, Gianluca Rotta, Silvia Naitza, Andrea Angius, Mauro Congia, Michael Whalen, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Edoardo Fiorillo, Serena Sanna, Francesco Cucca

Cell Elsevier Inc pages 242-256 vol. 155 num. 1 - september 2013 doi: 10.1016/j.cell.2013.08.041

[2-VPM13]

XEBIC at a Dual Beam

Massimo Vanzi, Simona Podda, Elodia Musu, Robert Cao

Microelectronics Reliability Elsevier pages 1399-1402 vol. 53 num. 9-11 - september 2013
issn: 0026-2714

[2-ZM13]

Theoretical Maximum Efficiency and Specific Impulse of the External Burning Scramjet

Vladimir L. Zimont, Evgeny Muhin

JOURNAL OF PROPULSION AND POWER American Institute of Aeronautics and Astronautics (AIAA) pages 1031-1040 vol. Vol.29 num. No. 5 - september 2013 doi: 10.2514/1.B34596

[2-BML13]

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

Alessandra Biffi, Eugenio Montini, Laura Lorioli, Martina Cesani, Francesca Fumagalli, Tiziana Plati, Cristina Baldoli, Sabata Martino, Andrea Calabria, Sabrina Canale, Fabrizio Benedicenti, Giuliana Vallanti, Luca Biasco, Simone Leo, Nabil Kabbara, Gianluigi Zanetti, William B. Rizzo, Nalini A. L. Mehta, Maria Pia Cicalese, Miriam Casiraghi, Jaap J. Boelens, Ubaldo Del Carro, David J. Dow, Manfred Schmidt, Andrea Assanelli, Victor Neduva, Clelia Di Serio, Elia Stupka, Jason Gardner, Christof von Kalle, Claudio Bordignon, Fabio Ciceri, Attilio Rovelli, Maria Grazia Roncarolo, Alessandro Aiuti, Maria Sessa, Luigi Naldini

Science AAAS pages 1233158 vol. 341 num. 6148 - august 2013 doi: 10.1126/science.1233158

[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

Afficher toute la liste (2921 publications) Download the selection

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