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 …

Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review

K Tsukada, S Nishio, M Hattori… - Annals of Otology …, 2015 - journals.sagepub.com
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 …

Genetic etiology of non-syndromic hearing loss in Europe

I Del Castillo, M Morín, M Domínguez-Ruiz… - Human Genetics, 2022 - Springer
Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

N Mahdieh, B Rabbani, S Wiley, MT Akbari… - Journal of human …, 2010 - nature.com
Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …

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 …

Органосохраняющая и миниинвазивная хирургия селезенки при ее повреждениях

МВ Тимербулатов, АГ Хасанов… - Медицинский вестник …, 2007 - cyberleninka.ru
Обоснована необходимость органосохраняющих и органозамещающих операций при
травматических повреждениях селезенки, изучено состояние пациентов в различные …

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

P Buonfiglio, CD Bruque, L Luce, F Giliberto… - Genes, 2020 - mdpi.com
Genetic variants in GJB 2 and GJB 6 genes are the most frequent causes of hereditary
hearing loss among several deaf populations worldwide. Molecular diagnosis enables …

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the …

NA Barashkov, VG Pshennikova, OL Posukh… - PLoS …, 2016 - journals.plos.org
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major
cause of hearing impairment (HI). More than 300 allelic variants have been identified in the …

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

J Vallian Broojeni, A Kazemi, H Rezaei, S Vallian - PLoS One, 2023 - journals.plos.org
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in
the Iranian population, with an incidence of 1 in 166 live births. In the present study, the …

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 …