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Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.
Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Athanasakis E, et al. Among authors: fabretto a. Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855652 Free PMC article.
Detection of epidermal thickening in GJB2 carriers with epidermal US.
Guastalla P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Zocconi E, Stefanidou D, D'Adamo P, Ronfani L, Montico M, Morgutti M, Gasparini P. Guastalla P, et al. Among authors: fabretto a. Radiology. 2009 Apr;251(1):280-6. doi: 10.1148/radiol.2511080912. Epub 2009 Feb 3. Radiology. 2009. PMID: 19190252
Molecular epidemiology of Usher syndrome in Italy.
Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P. Vozzi D, et al. Among authors: fabretto a. Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22. Mol Vis. 2011. PMID: 21738395 Free PMC article.
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Rocca MS, et al. Among authors: fabretto a. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Licastro D, et al. Among authors: fabretto a. PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012 Aug 29. PLoS One. 2012. PMID: 22952768 Free PMC article.
26 results