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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB. Brownstein Z, et al. Among authors: abeliovich d. Pediatr Res. 2004 Jun;55(6):995-1000. doi: 10.1203/01.PDR.0000125258.58267.56. Epub 2004 Mar 17. Pediatr Res. 2004. PMID: 15028842
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: abeliovich d. 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.
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: abeliovich d. Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013. Am J Hum Genet. 2008. PMID: 18940313 Free PMC article.
130 results