Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2007 1
2008 1
2009 2
2014 2
2015 1
2019 1
2020 2
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 23"
Page 1
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 …
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is re …
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X. Xiang Y, et al. J Clin Lab Anal. 2022 Nov;36(11):e24708. doi: 10.1002/jcla.24708. Epub 2022 Sep 26. J Clin Lab Anal. 2022. PMID: 36164746 Free PMC article.
However, such mutations are less commonly detected among patients suffering from nonsyndromic hearing loss (NSHL), including autosomal recessive deafness (DFNB2) and autosomal dominant deafness (DFNA11). ...RESULTS: Two heteroallelic muta …
However, such mutations are less commonly detected among patients suffering from nonsyndromic hearing loss (NSHL), incl …
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M. Seco CZ, et al. Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781754 Free PMC article.
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. ...
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous r …
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M. Tropitzsch A, et al. Ear Hear. 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. Ear Hear. 2022. PMID: 34753855 Free PMC article.
Regarding genetic diagnoses, autosomal-dominant genes accounted for 37%, autosomal-recessive genes for 60%, and X-linked genes for 3% of the solved cases. Syndromic/nonsyndromic hearing loss mimic genes were affected in 27% of the genetic …
Regarding genetic diagnoses, autosomal-dominant genes accounted for 37%, autosomal-recessive genes for 60%, and X-linke …
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F. Ramzan K, et al. Genes (Basel). 2020 Dec 9;11(12):1474. doi: 10.3390/genes11121474. Genes (Basel). 2020. PMID: 33316915 Free PMC article.
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The enco …
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, ar …
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Noori-Daloii MR, Tabatabaiefar MA. Koohiyan M, et al. Audiol Neurootol. 2020;25(5):258-262. doi: 10.1159/000506500. Epub 2020 Jun 2. Audiol Neurootol. 2020. PMID: 32485727
Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplished. Next-generation sequencing (NGS) was utilized to reveal the possible genetic etiology of the disease. ...
Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplis …
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Batissoco AC, et al. Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. Ear Hear. 2009. PMID: 19125024
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are r …
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point …
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr. Lim LH, et al. Arch Otolaryngol Head Neck Surg. 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12925341
OBJECTIVE: To determine the genotypic and phenotypic correlations of hearing impairment (HI) in a midwestern US population related to autosomal recessive nonsyndromic hearing loss locus 1 (DFNB1). DESIGN: A retrospective review. ...The allelic p …
OBJECTIVE: To determine the genotypic and phenotypic correlations of hearing impairment (HI) in a midwestern US population related to aut …
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY. Chung J, et al. J Mol Med (Berl). 2014 Jun;92(6):651-63. doi: 10.1007/s00109-014-1128-3. Epub 2014 Feb 15. J Mol Med (Berl). 2014. PMID: 24526180
Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosomal recessive nonsyndromic hearing loss (arNSHL) phenotypes, DFNB8 and DFNB10, in terms of residual hearing that may mandate di …
Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosomal recessiv …
Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss.
Mahfood M, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Tlili A. Mahfood M, et al. Genet Test Mol Biomarkers. 2019 Mar;23(3):204-208. doi: 10.1089/gtmb.2018.0264. Epub 2019 Feb 13. Genet Test Mol Biomarkers. 2019. PMID: 30758234
AIMS: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary deafness. ...It also reinforces the power of next-generation sequencing in the diagnosis of heterogenous disorders such as nonsyndromic …
AIMS: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary deafne …
11 results