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Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: torreri p. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
The Italian National Centre for Rare Diseases: where research and public health translate into action.
Taruscio D, Agresta L, Amato A, Bernardo G, Bernardo L, Braguti F, Carbone P, Carta C, Ceccarini M, Censi F, Coppola S, Crialese P, De Santis M, Diemoz S, Donati C, Gainotti S, Ferrari G, Floridia G, Frank C, Frazzica RG, Gentile AE, Granata O, Kodra Y, Latrofa M, Laricchiuta P, Magrelli A, Morciano C, Polizzi A, Razeto S, Salvatore M, Sanseverino A, Savini D, Torreri P, Tosto F, Villani F, Vincenti G, Vittozzi L. Taruscio D, et al. Among authors: torreri p. Blood Transfus. 2014 Apr;12 Suppl 3(Suppl 3):s591-605. doi: 10.2450/2014.0040-14s. Blood Transfus. 2014. PMID: 24922300 Free PMC article. Review. No abstract available.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D. Gainotti S, et al. Among authors: torreri p. Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396563 Free PMC article.
Identification of key regions and genes important in the pathogenesis of sezary syndrome by combining genomic and expression microarrays.
Caprini E, Cristofoletti C, Arcelli D, Fadda P, Citterich MH, Sampogna F, Magrelli A, Censi F, Torreri P, Frontani M, Scala E, Picchio MC, Temperani P, Monopoli A, Lombardo GA, Taruscio D, Narducci MG, Russo G. Caprini E, et al. Among authors: torreri p. Cancer Res. 2009 Nov 1;69(21):8438-46. doi: 10.1158/0008-5472.CAN-09-2367. Epub 2009 Oct 20. Cancer Res. 2009. PMID: 19843862
The Italian registry for patients with Prader-Willi syndrome.
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D. Salvatore M, et al. Among authors: torreri p. Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5. Orphanet J Rare Dis. 2023. PMID: 36793093 Free PMC article.
24 results