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Quoted phrase not found in phrase index: "Autosomal dominant 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 dom …
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsib …
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 …
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 …
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 …