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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 6"
Page 1
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J. Oh KS, et al. Hum Genet. 2022 Apr;141(3-4):889-901. doi: 10.1007/s00439-021-02368-y. Epub 2021 Sep 16. Hum Genet. 2022. PMID: 34529116 Free PMC article.
Consistent with this phenotypic difference, functional studies demonstrated distinct pathogenic mechanisms for COCH variants in a domain-dependent manner; specifically, a cytotoxic effect was observed for the p.Phe230Leu variant, which is located in the vWFA1 domain. No et …
Consistent with this phenotypic difference, functional studies demonstrated distinct pathogenic mechanisms for COCH variants in a domain-dep …
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 novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K. Xia J, et al. J Hum Genet. 2002;47(12):635-40. doi: 10.1007/s100380200098. J Hum Genet. 2002. PMID: 12522684
Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant nonsyndromic hearing loss have been identified. In a Chinese pedigree characterized by autosomal dominant inh …
Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant n …
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
Brown MR, Tomek MS, Van Laer L, Smith S, Kenyon JB, Van Camp G, Smith RJ. Brown MR, et al. Am J Hum Genet. 1997 Oct;61(4):924-7. doi: 10.1086/514892. Am J Hum Genet. 1997. PMID: 9382104 Free PMC article.
Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. ...To date, 39 NSHL genes have been localized. Twelve produce autosomal dominant hearing loss, most frequently postlingual in onset and progressive in …
Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. ...To date, 39 NSHL gene …
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. We found LOD scores >6 with markers on chromosome 11q. Analysis of key re …
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.
The family exhibited autosomal dominant, progressive, post-lingual, non-syndromic sensorineural hearing loss. ...The substitution of tyrosine with cysteine would affect the structure of the pore region, resulting in the loss of channel function. The KCNQ4 gene is on …
The family exhibited autosomal dominant, progressive, post-lingual, non-syndromic sensorineural hearing loss. ...The substitut …
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY. Kim BJ, et al. J Gene Med. 2018 Jun;20(6):e3019. doi: 10.1002/jgm.3019. Epub 2018 Apr 30. J Gene Med. 2018. PMID: 29607572
BACKGROUND: The MYO6 gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal dominant (AD) (DFNA22) or recessive form. ...A known heterozygous truncation variant, p.R205X, reported previously (SH21, SB60), was identif …
BACKGROUND: The MYO6 gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal domi …
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S. Naito T, et al. PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013. PLoS One. 2013. PMID: 23717403 Free PMC article.
In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) families identified 19 fa …
In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 proban …
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ. Kirschhofer K, et al. Cytogenet Cell Genet. 1998;82(1-2):126-30. doi: 10.1159/000015086. Cytogenet Cell Genet. 1998. PMID: 9763681
A four-generation family suffering from an autosomal-dominant, congenital, nonprogressive, nonsyndromic hearing loss was found in a rural region of Austria. ...Further sampling of the family, however, yielded data that reduced the maximal lod …
A four-generation family suffering from an autosomal-dominant, congenital, nonprogressive, nonsyndromic hearing …
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. Salam AA, et al. Am J Hum Genet. 2000 Jun;66(6):1984-8. doi: 10.1086/302931. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777717 Free PMC article.
DFNA23, a novel locus for autosomal dominant nonsyndromic hearing loss, was identified in a Swiss German kindred. ...The DFNA23 locus maps to 14q21-q22. Linkage analysis was carried out under a fully penetrant autosomal dominant mo …
DFNA23, a novel locus for autosomal dominant nonsyndromic hearing loss, was identified in a Swiss German …
16 results