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Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Del Castillo I, et al. Among authors: estivill x. Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14571368 Free PMC article.
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE. Wattenhofer M, et al. Among authors: estivill x. J Mol Med (Berl). 2002 Feb;80(2):124-31. doi: 10.1007/s00109-001-0310-6. Epub 2001 Dec 18. J Mol Med (Berl). 2002. PMID: 11907649
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: estivill x. 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.
Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin.
Ballana E, Morales E, Estivill X. Ballana E, et al. Among authors: estivill x. Biochem Biophys Res Commun. 2006 Aug 4;346(3):619-20. doi: 10.1016/j.bbrc.2006.05.098. Epub 2006 May 30. Biochem Biophys Res Commun. 2006. PMID: 16777068 No abstract available.
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Among authors: estivill x. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.
711 results