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 …
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss
MM Florentine, SL Rouse, J Stephans, D Conrad… - Human Genetics, 2022 - Springer
Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for
health equity. We sought to understand the extent and cause of racial and ethnic disparities …
health equity. We sought to understand the extent and cause of racial and ethnic disparities …
Dispersed DNA variants underlie hearing loss in South Florida's minority population
LS Peart, J Gonzalez, D Morel Swols, D Duman… - Human Genomics, 2023 - Springer
Background We analyzed the genetic causes of sensorineural hearing loss in racial and
ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data …
ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data …
GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
SM Adadey, N Manyisa, K Mnika, C De Kock… - Frontiers in …, 2019 - frontiersin.org
Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations
associated with non-syndromic childhood hearing impairment (HI) as well as the …
associated with non-syndromic childhood hearing impairment (HI) as well as the …
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment
RLP Santos, M Wajid, TL Pham, J Hussan… - Clinical …, 2005 - Wiley Online Library
The Pakistani population has become an important resource for research on autosomal
recessive non‐syndromic hearing impairment (ARNSHI) due to the availability of large …
recessive non‐syndromic hearing impairment (ARNSHI) due to the availability of large …
Hearing impairment overview in Africa: the case of Cameroon
E Wonkam Tingang, JJ Noubiap, JV F. Fokouo… - Genes, 2020 - mdpi.com
The incidence of hearing impairment (HI) is higher in low-and middle-income countries
when compared to high-income countries. There is therefore a necessity to estimate the …
when compared to high-income countries. There is therefore a necessity to estimate the …
Navigating genetic diagnostics in patients with hearing loss
CM Sloan-Heggen, RJH Smith - Current opinion in pediatrics, 2016 - journals.lww.com
Navigating genetic diagnostics in patients with hearing loss : Current Opinion in Pediatrics
Navigating genetic diagnostics in patients with hearing loss : Current Opinion in Pediatrics …
Navigating genetic diagnostics in patients with hearing loss : Current Opinion in Pediatrics …
GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal
Y Dia, SM Adadey, JPD Diop, ET Aboagye, SA Ba… - Biology, 2022 - mdpi.com
Simple Summary The prevalence of GJB2-related (MIM: 121011) congenital non-syndromic
hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European …
hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European …