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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: carta c. 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 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: carta c. 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.
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL. Sernadela P, et al. Among authors: carta c. Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29. Biomed Res Int. 2017. PMID: 29214177 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: carta c. 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.
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET.
Bandeira M, Di Cianni F, Marinello D, Arnaud L, Cannizzo S, Carta C, Cornet A, Barril SM, Bulina I, Ferraris A, Fonseca J, Gaglioti A, Limper M, Lorenzoni V, Majnik J, Matucci-Cerinic M, Palla I, Rednic S, Schneider M, Smith V, Sulli A, Søndergaard K, Ticciati S, Tincani A, Turchetti G, Talarico R, Cutolo M, Mosca M, Taruscio D. Bandeira M, et al. Among authors: carta c. Front Med (Lausanne). 2022 Sep 26;9:889997. doi: 10.3389/fmed.2022.889997. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36226147 Free PMC article. Review.
The Italian pilot external quality assessment program for cystic fibrosis sweat test.
Salvatore M, Floridia G, Amato A, Censi F, Carta C, de Stefano MC, Ferrari G, Tosto F, Capoluongo E, Caruso U, Castaldo G, Cirilli N, Corbetta C, Padoan R, Raia V, Taruscio D. Salvatore M, et al. Among authors: carta c. Clin Biochem. 2016 May;49(7-8):601-5. doi: 10.1016/j.clinbiochem.2015.12.014. Epub 2016 Feb 3. Clin Biochem. 2016. PMID: 26851350
Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.
Vignatelli L, Antelmi E, Ceretelli I, Bellini M, Carta C, Cortelli P, Ferini-Strambi L, Ferri R, Guerrini R, Ingravallo F, Marchiani V, Mari F, Pieroni G, Pizza F, Verga MC, Verrillo E, Taruscio D, Plazzi G. Vignatelli L, et al. Among authors: carta c. Neurol Sci. 2019 Mar;40(3):447-456. doi: 10.1007/s10072-018-3666-x. Epub 2018 Dec 12. Neurol Sci. 2019. PMID: 30539345 Free PMC article. Review.
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M. Caputo V, et al. Among authors: carta c. Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011. Am J Hum Genet. 2012. PMID: 22243968 Free PMC article.
61 results