Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China

Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations

(2015) Keita Tsukada et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort

(2015) Shin-ya Nishio et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

The homozygous p.V37I variant ofGJB2is associated with diverse hearing phenotypes

(2014) Y. Chai et al.   CLINICAL GENETICS

Homozygosity for the V37I GJB 2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

(2013) Emily Gallant et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations

(2013) Wan Du et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China

(2013) Feng Xin et al.   Journal of Translational Medicine

Subgroups of enlarged vestibular aqueduct in relation toSLC26A4mutations and hearing loss

(2013) Yasuhide Okamoto et al.   LARYNGOSCOPE

Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss

(2012) Siti Aishah Zainal et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

(2012) Shin-ichi Usami et al.   PLoS One

The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment

(2012) Lei Li et al.   PLoS One

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

(2012) Yongyi Yuan et al.   PLoS One

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

(2011) Shasha Huang et al.   Journal of Translational Medicine

Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies

(2009) Shuhua Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation

(2009) Jieming Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficient Molecular Genetic Diagnosis of Enlarged Vestibular Aqueducts in East Asians

(2009) Byung Yoon Choi et al.   Genetic Testing and Molecular Biomarkers

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

(2009) Pu Dai et al.   Journal of Translational Medicine

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

(2009) Yongyi Yuan et al.   Journal of Translational Medicine

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

(2009) Pu Dai et al.   Journal of Translational Medicine

GJB2,SLC26A4and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

(2008) Yu-Fen Guo et al.   ACTA OTO-LARYNGOLOGICA

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

(2008) Pu Dai et al.   GENETICS IN MEDICINE

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

(2008) K.Y. Lee et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population

(2008) Sung-Hee Han et al.   JOURNAL OF HUMAN GENETICS