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
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.
Wu T et al.
Bmc Medical Genomics, 2022
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
Indispensable Role of Ion Channels and Transporters in the Auditory System.
Mittal R et al.
Journal of Cellular Physiology, 2017
[Analysis of deafness-related gene mutations in 23 nonsyndromic hearing impairment families in Guangxi Zhuang Autonomous Region].
Shi M et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2017
[Analysis of the SLC26A4 mutation from 230 deafness patients in Guangxi region].
Liu M et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2016
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
[Analysis common gene mutation spots of 127 non-syndromic deafness natients in Guangxi Drovince].
Liu S et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015
Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families.
Yin A et al.
International Journal of Pediatric Otorhinolaryngology, 2014
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
Xin F et al.
Journal of Translational Medicine, 2013
[Gene diagnosis and genetic counseling in hereditary hearing loss].
Liu YH et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2013
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
Chai Y et al.
American Journal of Medical Genetics. Part A, 2013
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.
Yin A et al.
Bmc Medical Genetics, 2013
Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.
Chen J et al.
International Journal of Audiology, 2013
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
Li Q et al.
Journal of Translational Medicine, 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
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct.
Lim L et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011
[Prenatal genetic counseling and instruction for deaf families by genetic test].
Han MY et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2011
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
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 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
[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
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
Two common and three novel PDS mutations in Thai patients with Pendred syndrome.
Snabboon T et al.
Journal of Endocrinological Investigation, 2007
[Genetic counseling and instruction for deaf couples directed by genetic testing].
Han B et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007
[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
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
Park HJ et al.
Journal of Medical Genetics, 2003