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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 5"
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 …
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M. Tropitzsch A, et al. Ear Hear. 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. Ear Hear. 2022. PMID: 34753855 Free PMC article.
Regarding genetic diagnoses, autosomal-dominant genes accounted for 37%, autosomal-recessive genes for 60%, and X-linked genes for 3% of the solved cases. Syndromic/nonsyndromic hearing loss mimic genes were affected in 27% of the genetic …
Regarding genetic diagnoses, autosomal-dominant genes accounted for 37%, autosomal-recessive genes for 60%, and X-linke …
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 family) wi …
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (1 …
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 …
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 …