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Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until implementation of massively parallel DNA sequencing. In Europe, the most common form of autosomal recessive NSHI is DFNB1, which acc …
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until …
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC. Skvorak Giersch AB, et al. Curr Opin Pediatr. 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. Curr Opin Pediatr. 1999. PMID: 10590915 Review.
Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. Deafness can be inherited in an autosomal recessive, autosomal dominant, X-linked, or mitochondrial manner. Mutations in one gene, connexin 26 (enc …
Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. Deafness can be inherited in …
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H. Bazazzadegan N, et al. Am J Med Genet A. 2011 May;155A(5):1202-11. doi: 10.1002/ajmg.a.33209. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484990 Free PMC article. Review.
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL …
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. None of the genes associated with autosomal dom
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsib …
Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review.
Bindu LH, Reddy PP. Bindu LH, et al. Int J Audiol. 2008 Nov;47(11):702-7. doi: 10.1080/14992020802215862. Int J Audiol. 2008. PMID: 19031229 Review.
The current review mainly focuses on the 12S rRNA mitochondrial gene mutations associated with non-syndromic deafness without or after aminoglycosides exposure. Aminoglycoside-induced and nonsyndromic deafness has been shown to have a genetic susceptibility and the …
The current review mainly focuses on the 12S rRNA mitochondrial gene mutations associated with non-syndromic deafness without or after amino …