Associated Papers
The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
Yu K et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 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
The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients.
Wang Q et al.
Acta Oto-laryngologica, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 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
Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2021
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.
Zhang M et al.
Acta Oto-laryngologica, 2019
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
Luo J et al.
Annals of Human Genetics, 2017
The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.
Huang S et al.
International Journal of Pediatric Otorhinolaryngology, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss.
Han R et al.
Medicine, 2017
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D et al.
Human Genetics, 2016
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
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.
Du W et al.
Genomics, 2014
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.
Yazdanpanahi N et al.
Clinical and Experimental Otorhinolaryngology, 2013
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.
Wu CC et al.
Audiology & Neuro-otology, 2010
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.
Wu CC et al.
The Laryngoscope, 2009
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
Kahrizi K et al.
European Journal of Pediatrics, 2009
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008