Bricarelli FD - Search Results

1

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.

2

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.

3

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

4

Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations.

Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K; Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). Borry P, et al. Eur J Hum Genet. 2009 Jun;17(6):711-9. doi: 10.1038/ejhg.2009.25. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277061 Free PMC article.

5

Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics.

European Society of Human Genetics. European Society of Human Genetics. Eur J Hum Genet. 2009 Jun;17(6):720-1. doi: 10.1038/ejhg.2009.26. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277059 Free PMC article. No abstract available.

6

The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey.

Falbo V, Floridia G, Tosto F, Censi F, Salvatore M, Ravani A, Ferlini A, Melis MA, Grasso M, Bricarelli FD, Taruscio D. Falbo V, et al. Among authors: bricarelli fd. Genet Test. 2008 Jun;12(2):279-88. doi: 10.1089/gte.2007.0099. Genet Test. 2008. PMID: 18452397

7

Multipotent mesenchymal stromal cells from amniotic fluid: solid perspectives for clinical application.

Sessarego N, Parodi A, Podestà M, Benvenuto F, Mogni M, Raviolo V, Lituania M, Kunkl A, Ferlazzo G, Bricarelli FD, Uccelli A, Frassoni F. Sessarego N, et al. Among authors: bricarelli fd. Haematologica. 2008 Mar;93(3):339-46. doi: 10.3324/haematol.11869. Epub 2008 Feb 11. Haematologica. 2008. PMID: 18268281 Free article.

8

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: bricarelli fd. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

9

Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations.

Hastings RJ, Cavani S, Bricarelli FD, Patsalis PC, Kristoffersson U; ECA PWG Co-ordinators. Hastings RJ, et al. Among authors: bricarelli fd. Eur J Hum Genet. 2007 May;15(5):525-7. doi: 10.1038/sj.ejhg.5201809. Epub 2007 Mar 14. Eur J Hum Genet. 2007. PMID: 17356549 No abstract available.

10

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

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