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Quoted phrase not found in phrase index: "Nonsyndromic Hearing Loss, Recessive"
Page 1
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S. Booth KT, et al. Hum Genet. 2020 Dec;139(12):1565-1574. doi: 10.1007/s00439-020-02197-5. Epub 2020 Jun 19. Hum Genet. 2020. PMID: 32562050 Free PMC article.
Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-of-function/dominant-negative mechanism, and more recently autosomal rec …
Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing los …
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 four missense or start-loss mutations were located at well conserved residues, and most in silico an …
BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spec …
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A. Asaad M, et al. Hum Genomics. 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. Hum Genomics. 2023. PMID: 37189200 Free PMC article.
BACKGROUND: Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide. ...Sanger sequencing and PCR-RFLP of DNA samples from 130 deaf an …
BACKGROUND: Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non …
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. Azaiez H, et al. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24729539 Free PMC article.
Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal-dominant nonsyndromic hearing loss (NSHL), we used OtoSCOPE to ex …
Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accel …
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. Redfield SE, et al. Hum Genet. 2024 Mar;143(3):311-329. doi: 10.1007/s00439-024-02649-2. Epub 2024 Mar 9. Hum Genet. 2024. PMID: 38459354 Free PMC article.
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. ...(Arg3381Ter) variants were identified in PKHD1L …
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of …
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 two missense mutations were located at well conserved sites and in silico analysis …
Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought to be …
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M. Sineni CJ, et al. Hum Genet. 2019 Oct;138(10):1071-1075. doi: 10.1007/s00439-019-02037-1. Epub 2019 Jun 7. Hum Genet. 2019. PMID: 31175426 Free PMC article.
Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss. Three affected members of the family had sensorineural hearing loss ( …
Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with auto …
Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A. Dianatpour M, et al. Gene. 2021 Apr 30;778:145464. doi: 10.1016/j.gene.2021.145464. Epub 2021 Jan 29. Gene. 2021. PMID: 33524517 Free PMC article.
The disease has major genetic components, and can be inherited as a single gene disorder either in autosomal dominant or recessive fashions. Due to the high rate of consanguineous unions, Iran has one of the highest prevalence of autosomal recessive nonsyndromic …
The disease has major genetic components, and can be inherited as a single gene disorder either in autosomal dominant or recessive fa …
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY. Lim HD, et al. BMC Med Genomics. 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. BMC Med Genomics. 2023. PMID: 37041640 Free PMC article.
BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants …
BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biol …
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. ...The p.(Ile124du …
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two fam …
59 results