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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 10"
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Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium. Hiramatsu K, et al. Genes (Basel). 2021 Oct 15;12(10):1623. doi: 10.3390/genes12101623. Genes (Basel). 2021. PMID: 34681017 Free PMC article.
Variants in MYH14 are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants reported to cause hearing loss in various ethnic groups. ...The patients typically showed late-onset hearing loss arising later than 20 years o …
Variants in MYH14 are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants rep …
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T. Kasakura-Kimura N, et al. Laryngoscope. 2017 Sep;127(9):E324-E329. doi: 10.1002/lary.26528. Epub 2017 Mar 8. Laryngoscope. 2017. PMID: 28271504
OBJECTIVE: Evaluating the prevalence of specific gene mutations associated with a certain audiometric configuration facilitates clinical assessment of patients with sensorineural hearing loss (SNHL). WFS1 is responsible for autosomal dominant nonsyndromic …
OBJECTIVE: Evaluating the prevalence of specific gene mutations associated with a certain audiometric configuration facilitates clinical ass …
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A. Volo T, et al. Int J Pediatr Otorhinolaryngol. 2013 Aug;77(8):1280-5. doi: 10.1016/j.ijporl.2013.05.010. Epub 2013 Jun 14. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23751281
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural h …
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of alm …
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH. Xiao ZA, et al. Chin Med J (Engl). 2004 Dec;117(12):1797-801. Chin Med J (Engl). 2004. PMID: 15603707
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases of the autosomal dominant form. ...METHODS: Using PCR amplifying the entire coding region of GJB2 gene and direct DNA sequenci …
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases …