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The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H. Mora M, et al. Among authors: bricarelli fd. Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537360 Free PMC article.
The natural history of Cri du Chat Syndrome. A report from the Italian Register.
Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. Mainardi PC, et al. Among authors: bricarelli fd. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. doi: 10.1016/j.ejmg.2005.12.004. Epub 2006 Jan 13. Eur J Med Genet. 2006. PMID: 16473053
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
Taruscio D, Falbo V, Floridia G, Salvatore M, Pescucci C, Cantafora A, Marongiu C, Baroncini A, Calzolari E, Cao A, Castaldo G, Bricarelli FD, Guanti G, Nitsch L, Pignatti PF, Rosatelli C, Salvatore F, Zuffardi O. Taruscio D, et al. Among authors: bricarelli fd. Clin Chem Lab Med. 2004;42(8):915-21. doi: 10.1515/CCLM.2004.148. Clin Chem Lab Med. 2004. PMID: 15387442
A very fast and accurate method for calling aberrations in array-CGH data.
Benelli M, Marseglia G, Nannetti G, Paravidino R, Zara F, Bricarelli FD, Torricelli F, Magi A. Benelli M, et al. Among authors: bricarelli fd. Biostatistics. 2010 Jul;11(3):515-8. doi: 10.1093/biostatistics/kxq008. Epub 2010 Mar 5. Biostatistics. 2010. PMID: 20207682
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.
Filocamo M, Baldo C, Goldwurm S, Renieri A, Angelini C, Moggio M, Mora M, Merla G, Politano L, Garavaglia B, Casareto L, Bricarelli FD; Telethon Network of Genetic Biobanks Staff. Filocamo M, et al. Among authors: bricarelli fd. Orphanet J Rare Dis. 2013 Aug 30;8:129. doi: 10.1186/1750-1172-8-129. Orphanet J Rare Dis. 2013. PMID: 24004821 Free PMC article.
51 results