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Publications en 2018
Peer-reviewed publications in International Journals
[2-U.18] [Add to your selection]
Clinical and pathological factors influencing survival in a large cohort of triple-negative breast cancer patients
Silvana Urru, ...
BMC Cancer - january 2018  doi: 10.1186/s12885-017-3969-y
Various talks, works and publications
[6-C.C18] [Add to your selection]
ADA2 deficiency without ADA2 mutations explained by a structural homozygous variation in 22Q11.1
Roberta Caorsi, ..., Roberto Cusano, Paolo Uva, . ...
Poster presentation at European Paediatric Rheumatology Congress, Lisbon 2018 - 2018
[6-.CU18] [Add to your selection]
Distinct signatures of the gut microbiome in an italian cohort of patients with parkinson’s disease
..., Roberto Cusano, Paolo Uva, . ...
Poster presentation at 46 Congresso Nazionale della Società Italiana di Microbiologia, Palermo, 26-29 settembre 2018 - september 2018
 
Publications en 2017
Peer-reviewed publications in International Journals
[2-CCF17] [Add to your selection]
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-C.C17] [Add to your selection]
HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia
Giovanni Caocci, ..., Roberto Cusano, . ...
Leukemia research - august 2017  doi: 10.1016/j.leukres.2017.08.005
[2-L.C17] [Add to your selection]
KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation.
Roberto Littera, ..., Roberto Cusano, . ..., Carlo Carcassi
PLoS ONE - july 2017  doi: 10.1371/journal.pone.0180831
[2-P.C17] [Add to your selection]
Population- and individual-specific regulatory variation in Sardinia.
Mauro Pala, ..., Roberto Cusano, . ...
Nature Genetics - may 2017
[2-SOI17] [Add to your selection]
Overexpression of the Cytokine BAFF and Autoimmunity Risk
Maristella Steri, Valeria Orrú, Maria Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Sidore Carlo, Valeria Faa, Matteo Floris, ..., Roberto Cusano, Gianmauro Cuccuru, . ..., Francesco Cucca
The New England Journal of Medicine pages 1615-1626 vol. 376 - april 2017  doi: 10.1056/NEJMoa1610528
 
Publications en 2016
Peer-reviewed publications in International Journals
[2-RCA16] [Add to your selection]
Report on the Sixth Blind Test of Organic Crystal-Structure Prediction Methods
Anthony M. Reilly, Richard I. Cooper, Claire S. Adjiman, Detlef W.M. Hofmann, Liudmila Kuleshova, ...
Acta Crystallographica Section B: Structural Science, Crystal Engineering and Materials International Union of Crystallography pages 439--459 vol. 72 num. 4 - 2016  doi: 10.1107/S2052520616007447
[2-AUB16] [Add to your selection]
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch
American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016  doi: 10.1016/j.ajhg.2016.05.026
Various talks, works and publications
[6-CAU16] [Add to your selection]
Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype
Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...
Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016
[6-R.U16] [Add to your selection]
Ricerca di geni coinvolti in immunodeficienze primarie (PID) e in malattie autoinfiammatorie (AIDs) tramite whole-exome sequencing
Marta Rusmini, ..., Paolo Uva, . ...
Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - november 2016
[6-CAU16] [Add to your selection]
Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype
Laura Crisponi, Andrea Angius, Paolo Uva, ...
Oral communication at ESHG 2016, Barcelona, Spain, May 20 2016 - may 2016
 
Publications en 2015
Peer-reviewed publications in International Journals
[2-ZC.15] [Add to your selection]
Height-reducing variants and selection for short stature in Sardinia
Magdalena Zoledziewska, Sidore Carlo, ..., Matteo Floris, . ..., David Schlessinger, Francesco Cucca
Nature Genetics pages 1352--6 vol. 47 num. 11 - 2015  doi: 10.1038/ng.3403
[2-I.C15] [Add to your selection]
Tools and data services registry: a community effort to document bioinformatics resources
John Ison, ..., Gianmauro Cuccuru, Paolo Uva, Brunak Soren
Nucleic Acid Research - 2015  doi: 10.1093/nar/gkv1116
[2- O.15] [Add to your selection]
Analysis of PIK3CA Mutations and Activation Pathways in Triple Negative Breast Cancer
Paolo Cossu-Rocca, Sandra Orrù, ..., Silvana Urru, Maria Rosaria De Miglio
PLoS ONE - 2015  doi: 10.1371/journal.pone.0141763
[2-UTC15] [Add to your selection]
Reproducibility of liver iron concentration measured on a biopsy sample: a validation study in vivo
Silvana Urru, Igor Tandurella, Mario Capasso, ..., Emanuele Angelucci
Am J Hematol - 2015  doi: 10.1002/ajh.23878

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