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
1996 2
1998 2
1999 1
2003 2
2004 1
2005 1
2006 2
2007 3
2008 2
2009 1
2010 2
2013 1
2014 5
2015 3
2016 2
2017 1
2018 2
2019 3
2020 3
2022 3
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 2"
Page 1
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW. Choi HJ, et al. Genes Genomics. 2023 Feb;45(2):145-156. doi: 10.1007/s13258-022-01349-3. Epub 2022 Dec 6. Genes Genomics. 2023. PMID: 36472766
BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. ...The compound heterozygous mutations in LOXHD1 ([p.D278Y] + [p.D1219E]) and GJB2 [p.M1?] + [p.G12V …
BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wi …
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA, Rankin WA, Kurmis AP. Apps SA, et al. Int J Audiol. 2007 Feb;46(2):75-81. doi: 10.1080/14992020600582190. Int J Audiol. 2007. PMID: 17365058 Review.
This review explores the association between GJB2 gene mutations, encoding connexin 26 (Cx26), and nonsyndromic hearing loss. Connexins are proteins that form intracellular membrane channels and regulate ion movement between contiguous fluid spaces. ...We aim …
This review explores the association between GJB2 gene mutations, encoding connexin 26 (Cx26), and nonsyndromic hearing los …
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M. Bademci G, et al. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2204084119. doi: 10.1073/pnas.2204084119. Epub 2022 Jun 21. Proc Natl Acad Sci U S A. 2022. PMID: 35727972 Free PMC article.
Here we report on DNA variants in MINAR2, encoding membrane integral NOTCH2-associated receptor 2, in four families underlying autosomal recessive nonsyndromic deafness. ...We conclude that MINAR2 is essential for hearing in humans and mice and …
Here we report on DNA variants in MINAR2, encoding membrane integral NOTCH2-associated receptor 2, in four families underlying aut …
Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS, Liu XZ. Kabahuma RI, et al. Mol Genet Genomic Med. 2022 Oct;10(10):e2015. doi: 10.1002/mgg3.2015. Epub 2022 Aug 27. Mol Genet Genomic Med. 2022. PMID: 36029164 Free PMC article.
BACKGROUND: DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM #609761) on chromosome 22q13. ...METHODS: Target sequencing, using a custom capture panel of 180 known and candidate genes associated with se …
BACKGROUND: DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM # …
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW. Park HR, et al. Mol Biol Rep. 2020 Dec;47(12):9979-9985. doi: 10.1007/s11033-020-06037-7. Epub 2020 Dec 2. Mol Biol Rep. 2020. PMID: 33269433
Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought to be mainly due to relatively frequent consanguinity. ...The ESRRB and TMIE mutations were novel, and the TMIE mutation was observed …
Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought …
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S. Zheng K, et al. BMC Med Genomics. 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. BMC Med Genomics. 2024. PMID: 38167320 Free PMC article.
This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL). ...The splicing of the MYO15A gene was assessed by in silico bioinformatics prediction and minigene assays. RESULTS: …
This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearin …
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. ...Although we demonstrate that CLIC5 is expressed in man …
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous r …
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY. Kim SY, et al. PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015. PLoS One. 2015. PMID: 26061264 Free PMC article.
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiograms were evaluated in the GJB2 mutants. ...The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound …
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiogra …
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.
Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC. Scott DA, et al. Am J Hum Genet. 1996 Aug;59(2):385-91. Am J Hum Genet. 1996. PMID: 8755925 Free PMC article.
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of severe inherited childhood deafness. ...Genotyping of individuals from both kindreds confirmed linkage to chromosome 9q and a maximum combined LOD score of …
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of severe inherited childh …
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. J Hum Genet. 2020 Jan;65(2):187-192. doi: 10.1038/s10038-019-0691-4. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656313 Free PMC article.
Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified. ...Compound heterozygous variants c.382G>T: p.(Ala128Ser) and c.2204C>T: p.(Pro735Leu) in TMEM132E were observed …
Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 g …
38 results