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Page 1
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. Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22. Mol Vis. 2011. PMID: 21738395 Free PMC article.
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: d amico f, vozzi d, d eustacchio 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.
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Athanasakis E, et al. Among authors: d adamo ap, vozzi d. Am J Med Genet A. 2014 Jan;164A(1):170-6. doi: 10.1002/ajmg.a.36274. Epub 2013 Dec 4. Am J Med Genet A. 2014. PMID: 24307393
TBL1Y: a new gene involved in syndromic hearing loss.
Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P. Di Stazio M, et al. Among authors: d adamo pa, vozzi d. Eur J Hum Genet. 2019 Mar;27(3):466-474. doi: 10.1038/s41431-018-0282-4. Epub 2018 Oct 19. Eur J Hum Genet. 2019. PMID: 30341416 Free PMC article.
48 results