GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype
DK Chan, KW Chang - The Laryngoscope, 2014 - Wiley Online Library
Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …
[HTML][HTML] Hearing impairment and language delay in infants: Diagnostics and genetics
R Lang-Roth - GMS current topics in otorhinolaryngology, head …, 2014 - ncbi.nlm.nih.gov
Hearing impairment and language delay in infants: Diagnostics and genetics - PMC Back to Top
Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main …
Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main …
Connexin genes variants associated with non-syndromic hearing impairment: a systematic review of the global burden
SM Adadey, E Wonkam-Tingang, E Twumasi Aboagye… - Life, 2020 - mdpi.com
Mutations in connexins are the most common causes of hearing impairment (HI) in many
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants
M Koohiyan, M Hashemzadeh-Chaleshtori… - International Journal of …, 2018 - Elsevier
Objective Hereditary hearing loss (HL) is a noticeable concern in medicine all over the
world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a …
world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a …
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication
JH Park, NKD Kim, AR Kim, J Rhee, SH Oh… - Orphanet journal of rare …, 2014 - Springer
Background Severe to profound sensorineural hearing loss (SNHL) requires cochlear
implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy …
implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy …
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
V Mikstiene, A Jakaitiene, J Byckova, E Gradauskiene… - BMC genetics, 2016 - Springer
Background Congenital hearing loss (CHL) is diagnosed in 1–2 newborns in 1000, genetic
factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the …
factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the …
Prevalence of various etiologies of hearing loss among cochlear implant recipients: Systematic review and meta-analysis
NK Petersen, AW Jørgensen… - International journal of …, 2015 - Taylor & Francis
Objective: To investigate the etiology of deafness in cochlear implanted children and to
address the question whether there is a need for more thorough diagnostics, especially …
address the question whether there is a need for more thorough diagnostics, especially …
[HTML][HTML] Genetics of hearing loss in north Iran population: an update of spectrum and frequency of GJB2 mutations
M Koohiyan, F Azadegan-Dehkordi… - Journal of Audiology …, 2019 - ncbi.nlm.nih.gov
Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes
responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It …
responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It …
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing …
Z Nouri, A Sarmadi, S Narrei, H Kianersi… - BMC Medical …, 2024 - Springer
Background Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies
(CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we …
(CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we …