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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: di stazio m. 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.
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.
Callea M, Nieminen P, Willoughby CE, Clarich G, Yavuz I, Vinciguerra A, Di Stazio M, Giglio S, Sani I, Maglione M, Pensiero S, Tadini G, Bellacchio E. Callea M, et al. Among authors: di stazio m. J Eur Acad Dermatol Venereol. 2016 Feb;30(2):341-3. doi: 10.1111/jdv.12747. Epub 2014 Sep 30. J Eur Acad Dermatol Venereol. 2016. PMID: 25266272 No abstract available.
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: di stazio m. 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.
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G. Morgan A, et al. Among authors: di stazio m. Eur J Hum Genet. 2019 Jan;27(1):70-79. doi: 10.1038/s41431-018-0229-9. Epub 2018 Sep 3. Eur J Hum Genet. 2019. PMID: 30177775 Free PMC article.
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. 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.
23 results