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Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
Vuckovic D, Dawson S, Scheffer DI, Rantanen T, Morgan A, Di Stazio M, Vozzi D, Nutile T, Concas MP, Biino G, Nolan L, Bahl A, Loukola A, Viljanen A, Davis A, Ciullo M, Corey DP, Pirastu M, Gasparini P, Girotto G. Vuckovic D, et al. Among authors: gasparini p. Hum Mol Genet. 2015 Oct 1;24(19):5655-64. doi: 10.1093/hmg/ddv279. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188009 Free PMC article.
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Donaudy F, et al. Among authors: gasparini p. Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015131 Free PMC article.
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.
Traglia M, Sala C, Masciullo C, Cverhova V, Lori F, Pistis G, Bione S, Gasparini P, Ulivi S, Ciullo M, Nutile T, Bosi E, Sirtori M, Mignogna G, Rubinacci A, Buetti I, Camaschella C, Petretto E, Toniolo D. Traglia M, et al. Among authors: gasparini p. PLoS One. 2009 Oct 22;4(10):e7554. doi: 10.1371/journal.pone.0007554. PLoS One. 2009. PMID: 19847309 Free PMC article.
Age-related hearing loss in four Italian genetic isolates: an epidemiological study.
Bedin E, Franzè A, Zadro C, Persico MG, Ciullo M, Hladnik U, Dolcetta D, Grasso DL, Riccardi P, Nutile T, Andrighetto G, D'Adamo P, Gasparini P, Marciano E. Bedin E, et al. Among authors: gasparini p. Int J Audiol. 2009;48(7):465-72. doi: 10.1080/14992020902822039. Int J Audiol. 2009. PMID: 19925333
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.
Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d'Adamo AP, Hastie ND, Nutile T, Polasek O, Portas L, Rudan I, Ulivi S, Zemunik T, Wright AF, Ciullo M, Hayward C, Pirastu M, Gasparini P. Girotto G, et al. Among authors: gasparini p. J Med Genet. 2011 Jun;48(6):369-74. doi: 10.1136/jmg.2010.088310. Epub 2011 Apr 14. J Med Genet. 2011. PMID: 21493956
606 results