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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Among authors: avraham kb. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.
The genetics of hearing loss.
Ben-David O, Avraham KB. Ben-David O, et al. Among authors: avraham kb. J Basic Clin Physiol Pharmacol. 1999;10(3):163-71. doi: 10.1515/jbcpp.1999.10.3.163. J Basic Clin Physiol Pharmacol. 1999. PMID: 10529903 Review. No abstract available.
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: avraham kb. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP. Vreugde S, et al. Among authors: avraham kb. Nat Genet. 2002 Mar;30(3):257-8. doi: 10.1038/ng848. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850623
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: avraham kb. 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.
187 results