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Year Number of Results
1998 2
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Page 1
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 …
Genetics of Hearing Loss--Nonsyndromic.
Chang KW. Chang KW. Otolaryngol Clin North Am. 2015 Dec;48(6):1063-72. doi: 10.1016/j.otc.2015.06.005. Epub 2015 Aug 11. Otolaryngol Clin North Am. 2015. PMID: 26275501 Review.
Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. ...
Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are cau …
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
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. ...They range from lesions of single tissues or s …
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or rec …
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS, Oziębło D, Skarżyński H, Ołdak M. Gan NS, et al. Audiol Neurootol. 2023;28(5):327-337. doi: 10.1159/000529464. Epub 2023 Apr 28. Audiol Neurootol. 2023. PMID: 37121227 Free article. Review.
Around half of the diagnosed prelingual HL cases have a genetic cause and it is usually inherited in an autosomal recessive mode. Postlingual HL caused by genetic changes generally has an autosomal dominant pattern of inheritance and its incidence remains unk …
Around half of the diagnosed prelingual HL cases have a genetic cause and it is usually inherited in an autosomal recessive mode. Pos …
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ. Chen AH, et al. Arch Otolaryngol Head Neck Surg. 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9440775 Review.
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). ...CONCLUSIONS: By simple Mendelian genetics, the risk of inheriting a fully penetrant autosomal dominant NSHL gene from a single affect …
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). ...CONCLUS …
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB. Miyoshi T, et al. Hum Genet. 2022 Apr;141(3-4):363-382. doi: 10.1007/s00439-021-02304-0. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232383 Review.
Currently, at least 23 genes, associated with human syndromic and nonsyndromic hearing loss, encode proteins involved in the development and maintenance of stereocilia F-actin cores. ...Here, we review the functions of several molecular components of stereoci …
Currently, at least 23 genes, associated with human syndromic and nonsyndromic hearing loss, encode proteins involved i …
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 …
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 …
12 results