相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
Yanfang Mi et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults
Shadi Ahmadmehrabi et al.
HUMAN GENETICS (2021)
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
In Seok Moon et al.
FRONTIERS IN GENETICS (2021)
Single gene variants causing deafness in Asian Indians
Inusha Panigrahi et al.
JOURNAL OF GENETICS (2021)
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
Yanfang Mi et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Prevalence and clinical features of hearing loss caused by EYA4 variants
Jun Shinagawa et al.
SCIENTIFIC REPORTS (2020)
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
Matias Morin et al.
SCIENTIFIC REPORTS (2020)
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees
Brittany T. Truong et al.
CLINICAL GENETICS (2019)
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Lukas Varga et al.
BMC MEDICAL GENETICS (2019)
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
Simone Gana et al.
FRONTIERS IN GENETICS (2019)
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families
Shushan Sang et al.
FRONTIERS IN GENETICS (2019)
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Kenjiro Sugiyama et al.
GENES (2019)
Hereditary hearing loss; about the known and the unknown
Hannie Kremer
HEARING RESEARCH (2019)
Identification of a novel missense eya4 mutation causing autosomal dominant non-syndromic hearing loss in a Chinese family
Shu-ying Xiao et al.
CELLULAR AND MOLECULAR BIOLOGY (2019)
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members
Federica Cesca et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2018)
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss
Tomohiro Kitano et al.
PLOS ONE (2017)
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients
Allison L. Cirino et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
Genomic copy number alterations in non-syndromic hearing loss
C. Rosenberg et al.
CLINICAL GENETICS (2016)
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
Hideaki Moteki et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2016)
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment
Eline van Beelen et al.
EAR AND HEARING (2016)
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
Siqi Chen et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2016)
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina M. Sloan-Heggen et al.
HUMAN GENETICS (2016)
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
Manou Sommen et al.
HUMAN MUTATION (2016)
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
Yoh-ichiro Iwasa et al.
PLOS ONE (2016)
Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics
Maiko Miyagawa et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2015)
Exome sequencing and whole genome sequencing for the detection of copy number variation
Jayne Y. Hehir-Kwa et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)
Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation
Carina Frykholm et al.
GENE (2015)
A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing
Yi Sun et al.
JOURNAL OF HUMAN GENETICS (2015)
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
Aiping Huang et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2015)
Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
Barbara Vona et al.
MOLECULAR AND CELLULAR PROBES (2015)
Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss
Ye-Ri Kim et al.
PLOS ONE (2015)
Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss
Fei Liu et al.
PLOS ONE (2015)
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
Barbara Vona et al.
GENETICS IN MEDICINE (2014)
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss
Minxing Tan et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)
Copy number variants are a common cause of non-syndromic hearing loss
A. Eliot Shearer et al.
GENOME MEDICINE (2014)
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Kornelia Neveling et al.
HUMAN MUTATION (2013)
Phenotypic impact of genomic structural variation: insights from and for human disease
Joachim Weischenfeldt et al.
NATURE REVIEWS GENETICS (2013)
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing
Tao Yang et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss
Byung Yoon Choi et al.
PLOS ONE (2013)
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families
Jeong-In Baek et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
Maiko Miyagawa et al.
PLOS ONE (2012)
De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation
Veronique Dutrannoy et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
EYA4, Deleted in a Case with Middle Interhemispheric Variant of Holoprosencephaly, Interacts with SIX3 both Physically and Functionally
Yuichi Abe et al.
HUMAN MUTATION (2009)
A novel splice site mutation in EYA4 causes DFNA10 hearing loss
Michael S. Hildebrand et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4:: Evidence for correlation of normal cardiac phenotype mutations of the with truncating Eya domain
Tomoko Makishima et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
A 4bp-insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10
M Pfister et al.
MOLECULAR MEDICINE (2002)
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
S Wayne et al.
HUMAN MOLECULAR GENETICS (2001)
Dilated cardiomyopathy and sensorineural hearing loss -: A heritable syndrome that maps to 6q23-24
J Schönberger et al.
CIRCULATION (2000)
分享论文
