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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 12"
Page 1
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 …
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ. Makishima T, et al. Otol Neurotol. 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. Otol Neurotol. 2004. PMID: 15354000
OBJECTIVE: To characterize the auditory and vestibular phenotype of autosomal dominant nonsyndromic DFNA36 hearing loss. STUDY DESIGN: Clinical evaluation of individuals with DFNA36 hearing loss linked to the D572N mutation of transmembrane channel-like gene 1 (TMC1 …
OBJECTIVE: To characterize the auditory and vestibular phenotype of autosomal dominant nonsyndromic DFNA36 hearing loss. STUDY …
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 …
A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS. Yen TT, et al. Genes (Basel). 2021 Oct 27;12(11):1711. doi: 10.3390/genes12111711. Genes (Basel). 2021. PMID: 34828318 Free PMC article.
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of KCNQ4 gene is a common genetic factor of ADNSHL. ...Study subjects were selected from the participants of the Taiwan Precision Medicine …
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variant …
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L. Liu X, et al. Ann Otol Rhinol Laryngol. 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. Ann Otol Rhinol Laryngol. 1994. PMID: 8203808
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (12 families) with autosomal dominant (AD) loss, 50 (15 families) with autosomal recessive (AR) loss, and 3 (1 fam …
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 ( …
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of …
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing …
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 …