Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin P et al.
Genes, 2021
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
Lee B et al.
Human Mutation, 2019
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz FB et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
Lee HJ et al.
Clinical Genetics, 2014
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
Yao G et al.
International Journal of Pediatric Otorhinolaryngology, 2013
A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.
Sagong B et al.
Plos One, 2013
[SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology].
Mao J et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2012
Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic.
Shin JW et al.
Clinical and Experimental Otorhinolaryngology, 2012
Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss.
Choi SY et al.
International Journal of Molecular Medicine, 2010
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
Choi BY et al.
Genetic Testing and Molecular Biomarkers, 2009
Construction of a DNA chip for screening of genetic hearing loss.
Choi SY et al.
Clinical and Experimental Otorhinolaryngology, 2009
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
Dai P et al.
Journal of Translational Medicine, 2008
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.
Lee KY et al.
International Journal of Pediatric Otorhinolaryngology, 2008
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
Park HJ et al.
Clinical Genetics, 2005