Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.
Tian Y et al.
Molecular Genetics & Genomic Medicine, 2021
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang H et al.
Bmc Medical Genomics, 2021
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
Pourahmadiyan A et al.
International Journal of Audiology, 2019
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Genotyping and audiological characteristics of infants with a single-allele SLC26A4 mutation.
Zhao X et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
Zhang F et al.
Biomed Research International, 2016
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
Gao Z et al.
Plos One, 2016
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.
Liu Y et al.
Plos One, 2016
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
Yao G et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
Lai R et al.
The Journal of Laryngology and Otology, 2012
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
Yuan Y et al.
Plos One, 2012
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
Huang S et al.
Journal of Translational Medicine, 2011
[Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].
Wang G et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2011
[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].
Li Q et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
Reyes S et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2009
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Yuan Y et al.
Journal of Translational Medicine, 2009
[Real-time Taqman probe technique system for detecting the MtDNA 1555 A > G mutation.].
Yuan YY et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 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
[GJB6 gene mutation analysis in Chinese nonsyndromic deaf population].
Yuan Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2007
[Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening].
Dai P et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2006
Hearing loss trajectory and prediction model for children with enlarged vestibular aqueduct.
Deng L et al.
American Journal of Otolaryngology, 0