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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 9"
Page 1
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 …
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 …
Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with a …
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY. Kim SY, et al. PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015. PLoS One. 2015. PMID: 26061264 Free PMC article.
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiograms were evaluated in the GJB2 mutants. ...The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound …
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiogra …
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.
We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. ...Interestingly, the delete …
We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive …
Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.
Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR. Longo-Guess CM, et al. Mamm Genome. 2007 Sep;18(9):646-56. doi: 10.1007/s00335-007-9049-x. Epub 2007 Sep 18. Mamm Genome. 2007. PMID: 17876667 Free PMC article.
Subsequently, mutations in the human TMHS gene were shown to be responsible for DFNB67, an autosomal recessive nonsyndromic deafness locus. Here we describe a genetically engineered null mutation of the mouse Tmhs gene (Tmhs ( tm1Kjn )) and show that i …
Subsequently, mutations in the human TMHS gene were shown to be responsible for DFNB67, an autosomal recessive nonsyndromic …