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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 6"
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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.
Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. ...A putative WFS1-NC …
Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by …
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ. Verhoeven K, et al. Am J Hum Genet. 1997 May;60(5):1168-73. Am J Hum Genet. 1997. PMID: 9150164 Free PMC article.
We performed linkage analysis in a Belgian family with autosomal dominant midfrequency hearing loss, which has a prelingual onset and a nonprogressive course in most patients. ...The critical regions for the recessive deafness locus DFNB2 and the dominant …
We performed linkage analysis in a Belgian family with autosomal dominant midfrequency hearing loss, which has a prelingual on …
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D. Li Q, et al. Mol Med Rep. 2021 Jun;23(6):420. doi: 10.3892/mmr.2021.12059. Epub 2021 Apr 13. Mol Med Rep. 2021. PMID: 33846771 Free PMC article.
Variants in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of progressive hearing loss, deafness non-syndromic autosomal dominant 2A (DFNA2A). In the present study, whole-exome sequencing (WES) was performed on three …
Variants in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of progressive hearing loss, dea …
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L. Sanggaard KM, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. Am J Med Genet A. 2008. PMID: 18348273
Autosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently 54 distinct loci (DFNA1-54), and >20 different genes identified. Seven different unconventional myosin genes are involved in ten differen …
Autosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently …
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS. Lee CG, et al. Mol Med Rep. 2018 Jun;17(6):7611-7617. doi: 10.3892/mmr.2018.8837. Epub 2018 Mar 29. Mol Med Rep. 2018. PMID: 29620237 Free PMC article.
The ACTG1 gene encodes the cytoskeletal protein gamma-actin, which functions in non-muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically cha …
The ACTG1 gene encodes the cytoskeletal protein gamma-actin, which functions in non-muscle cells and is abundant in the auditory hair cells …