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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 53"
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Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY. Lee SY, et al. Exp Mol Med. 2021 Jul;53(7):1192-1204. doi: 10.1038/s12276-021-00653-4. Epub 2021 Jul 28. Exp Mol Med. 2021. PMID: 34316018 Free PMC article.
Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective pharmacotherapeutics have been developed to reverse channel activity impairment. ...
Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hea …
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A. Van Heurck R, et al. Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277. Genes (Basel). 2021. PMID: 34440452 Free PMC article.
In adults, the two patients showed an autosomal dominant inheritance pattern. Among the 32 children, 17 (53.1%) had nonsyndromic hearing loss and 15 (46.7%) had syndromic hearing loss. One adult was diagnosed with syndromic hearing loss a …
In adults, the two patients showed an autosomal dominant inheritance pattern. Among the 32 children, 17 (53.1%) had …
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q. Zhao Y, et al. PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013. PLoS One. 2013. PMID: 23936043 Free PMC article.
In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a critical region spanning 28.54 Mb on chromosome 9q31.3-q34.3 by linkage analysis, which was a novel DFNA locus, assigned as DFNA56. ...Furt …
In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a …