Department of Hearing Implant Sciences
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Sensorineural hearing loss and mild cardiac phenotype caused by an mutation.
Human genome variation , 2018 | Pubmed ID: 30155266
Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.
Clinical case reports Nov, 2018 | Pubmed ID: 30455902
Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes.
Acta oto-laryngologica Dec, 2018 | Pubmed ID: 30702034
Frequency and clinical features of hearing loss caused by STRC deletions.
Scientific reports Mar, 2019 | Pubmed ID: 30867468
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
PloS one , 2019 | Pubmed ID: 31095577
Comprehensive analysis of syndromic hearing loss patients in Japan.
Scientific reports Aug, 2019 | Pubmed ID: 31427586
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
International journal of molecular sciences Sep, 2019 | Pubmed ID: 31527509
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of -Associated Hearing Loss.
Genes Sep, 2019 | Pubmed ID: 31527525
Mutational Spectrum and Clinical Features of Patients with Variants Identified in an 8074 Hearing Loss Patient Cohort.
Genes Sep, 2019 | Pubmed ID: 31547530
The Prevalence and Clinical Characteristics of -Associated Autosomal Dominant Hearing Loss.
Genes Sep, 2019 | Pubmed ID: 31554319
Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort.
Acta oto-laryngologica Jan, 2020 | Pubmed ID: 31738639
Cochlear Implantation From the Perspective of Genetic Background.
Anatomical record (Hoboken, N.J. : 2007) Mar, 2020 | Pubmed ID: 32027099
Haplotype Analysis of Mutations: Founder Effect or Mutational Hot Spot?
Genes Feb, 2020 | Pubmed ID: 32120898
Genetic testing has the potential to impact hearing preservation following cochlear implantation.
Acta oto-laryngologica Jun, 2020 | Pubmed ID: 32134349
Clinical Characteristics and In Vitro Analysis of Variants Causing Late-Onset Progressive Hearing Loss.
Genes Mar, 2020 | Pubmed ID: 32143290
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Nature communications Mar, 2020 | Pubmed ID: 32165640
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss.
Scientific reports Apr, 2020 | Pubmed ID: 32341388
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Human genetics Oct, 2020 | Pubmed ID: 32382995
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Medicine May, 2020 | Pubmed ID: 32384426
Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing.
Acta oto-laryngologica Aug, 2020 | Pubmed ID: 32498646
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Auris, nasus, larynx Apr, 2022 | Pubmed ID: 32980210
Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.
Human genome variation , 2020 | Pubmed ID: 33014404
Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.
Human genome variation , 2020 | Pubmed ID: 33133630
Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable).
Acta oto-laryngologica Mar, 2021 | Pubmed ID: 33320029
Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip.
Genetic testing and molecular biomarkers Jan, 2021 | Pubmed ID: 33372830
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology Aug, 2021 | Pubmed ID: 33859130
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Human genetics Apr, 2022 | Pubmed ID: 34232383
A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan.
Acta oto-laryngologica Sep, 2021 | Pubmed ID: 34452594
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Human genetics Apr, 2022 | Pubmed ID: 34523024
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Human genetics Apr, 2022 | Pubmed ID: 34536124
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Human genetics Apr, 2022 | Pubmed ID: 34599366
Milestones toward cochlear gene therapy for patients with hereditary hearing loss.
Laryngoscope investigative otolaryngology Oct, 2021 | Pubmed ID: 34693000
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Human genetics Apr, 2022 | Pubmed ID: 34727261
Genetic background in late-onset sensorineural hearing loss patients.
Journal of human genetics Apr, 2022 | Pubmed ID: 34824372
Frequency and natural course of congenital cytomegalovirus-associated hearing loss in children.
Acta oto-laryngologica Dec, 2021 | Pubmed ID: 34825622
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Human genetics Apr, 2022 | Pubmed ID: 35020051
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Scientific reports Jan, 2022 | Pubmed ID: 35022556
Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases.
Acta oto-laryngologica , 2022 | Pubmed ID: 35481391
Speech perception in noise in patients with idiopathic sudden hearing loss.
Acta oto-laryngologica , 2022 | Pubmed ID: 35621147
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
American journal of medical genetics. Part A Jan, 2023 | Pubmed ID: 36189931
Estimated number and prevalence of patients with delayed endolymphatic hydrops in Japan: a nationwide survey.
Acta oto-laryngologica , 2022 | Pubmed ID: 36519274
Sound localization in patients with idiopathic sudden hearing loss.
Acta oto-laryngologica Jan, 2023 | Pubmed ID: 36661486
The relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation.
Acta oto-laryngologica May, 2023 | Pubmed ID: 37083037
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in (mcEDS-).
Genes Jun, 2023 | Pubmed ID: 37510254
Determining optimal cochlear implant electrode array with OTOPLAN.
Acta oto-laryngologica Sep, 2023 | Pubmed ID: 37737708
Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue.
International journal of molecular sciences Mar, 2024 | Pubmed ID: 38474154
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Scientific reports Apr, 2024 | Pubmed ID: 38594301
Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns.
International journal of epidemiology Apr, 2024 | Pubmed ID: 38609324
Detailed Clinical Features of -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
Genes Apr, 2024 | Pubmed ID: 38674423
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Scientific reports May, 2024 | Pubmed ID: 38720048
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
Genes Apr, 2024 | Pubmed ID: 38790200
Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23.
Stem cell research Sep, 2024 | Pubmed ID: 38878669
Clinical practice guidelines for the diagnosis and management of acute sensorineural hearing loss.
Auris, nasus, larynx Aug, 2024 | Pubmed ID: 38968877
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Scientific reports Feb, 2020 | Pubmed ID: 32107406
Prevalence and Clinical Characteristics of Hearing Loss Caused by Variants.
Genes Oct, 2021 | Pubmed ID: 34681017
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