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GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 329, doi. 10.1007/s00439-002-0889-x
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- Publication type:
- Article
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 613, doi. 10.1038/jhg.2015.82
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- Publication type:
- Article
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 262, doi. 10.1038/jhg.2014.12
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- Publication type:
- Article
Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0206891
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- Publication type:
- Article
The diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakage.
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- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191498
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- Publication type:
- Article
Towards a Unified Testing Framework for Single-Sided Deafness Studies: A Consensus Paper.
- Published in:
- 2017
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- Publication type:
- journal article
Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations.
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- Audiology & Neurotology, 2015, v. 20, n. 3, p. 147, doi. 10.1159/000368292
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- Publication type:
- Article
Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.
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- 2006
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- Publication type:
- journal article
Molecular diagnosis of deafness: impact of gene identification.
- Published in:
- 2002
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- Publication type:
- journal article
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 587, doi. 10.1038/jhg.2012.73
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- Publication type:
- Article
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 484, doi. 10.1038/jhg.2011.45
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- Publication type:
- Article
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 510, doi. 10.1007/s10038-007-0144-3
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- Publication type:
- Article
Clinical features of patients withGJB2(connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 2, p. 76, doi. 10.1007/s10038-004-0223-7
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- Publication type:
- Article
Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss.
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- Journal of Human Genetics, 2003, v. 48, n. 11, p. 564, doi. 10.1007/s10038-003-0079-2
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- Publication type:
- Article
Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2907, doi. 10.3390/ijms25052907
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- Publication type:
- Article
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4579, doi. 10.3390/ijms20184579
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- Publication type:
- Article
A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
Endoscopic-assisted myringoplasty.
- Published in:
- 2001
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- Publication type:
- journal article
Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation.
- Published in:
- 2001
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- Publication type:
- journal article
Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation.
- Published in:
- 1998
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- Publication type:
- journal article
Calbindin-D28K Localization in the Primate Inner Ear.
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- ORL, 1995, v. 57, n. 2, p. 94, doi. 10.1159/000276718
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- Publication type:
- Article
Light- and electron-microscopic study of gamma-aminobutyric-acid-like immunoreactivity in the guinea pig organ of Corti.
- Published in:
- 1988
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- Publication type:
- journal article
Milestones toward cochlear gene therapy for patients with hereditary hearing loss.
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- Laryngoscope Investigative Otolaryngology, 2021, v. 6, n. 5, p. 958, doi. 10.1002/lio2.633
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- Publication type:
- Article
Congenital Membranous Stapes Footplate Producing Episodic Pressure-Induced Perilymphatic Fistula Symptoms.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.585747
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- Publication type:
- Article
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 571, doi. 10.3390/genes15050571
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- Publication type:
- Article
Detailed Clinical Features of PTPRQ -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
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- Genes, 2024, v. 15, n. 4, p. 489, doi. 10.3390/genes15040489
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- Publication type:
- Article
Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS- CHST14).
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- Genes, 2023, v. 14, n. 7, p. 1350, doi. 10.3390/genes14071350
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- Publication type:
- Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
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- Genes, 2021, v. 12, n. 10, p. 1623, doi. 10.3390/genes12101623
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- Publication type:
- Article
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss.
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- Genes, 2020, v. 11, n. 3, p. 273, doi. 10.3390/genes11030273
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- Publication type:
- Article
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
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- Genes, 2020, v. 11, n. 3, p. 250, doi. 10.3390/genes11030250
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- Publication type:
- Article
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 744, doi. 10.3390/genes10100744
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- Publication type:
- Article
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
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- Genes, 2019, v. 10, n. 10, p. 735, doi. 10.3390/genes10100735
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- Publication type:
- Article
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
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- Genes, 2019, v. 10, n. 9, p. 715, doi. 10.3390/genes10090715
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- Publication type:
- Article
Constitutive activation of DIA1 ( DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
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- EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1310, doi. 10.15252/emmm.201606609
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- Publication type:
- Article
Cochlear Implantation From the Perspective of Genetic Background.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 563, doi. 10.1002/ar.24360
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- Publication type:
- Article
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
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- 2004
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- Publication type:
- Correction notice
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 916, doi. 10.1038/sj.ejhg.5201073
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- Publication type:
- Article
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 744, doi. 10.1038/sj.ejhg.5201043
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- Publication type:
- Article
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 563, doi. 10.1038/sj.ejhg.5200239
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- Publication type:
- Article
Pre-Baha Operation Three Dimensional Computed Tomography With Markers for Determining Optimal Implant Site.
- Published in:
- Laryngoscope, 2008, v. 118, n. 10, p. 1824, doi. 10.1097/MLG.0b013e31817f4cf6
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- Publication type:
- Article
Three Types of Internal Jugular Vein Reconstruction in Bilateral Radical Neck Dissection.
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- Laryngoscope, 2000, v. 110, n. 9, p. 1578, doi. 10.1097/00005537-200009000-00034
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- Publication type:
- Article
The effects of breast density on the benefits of mammograms with adjunctive ultrasonography in breast screening.
- Published in:
- Breast Cancer (13406868), 2024, v. 31, n. 2, p. 228, doi. 10.1007/s12282-023-01525-7
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- Publication type:
- Article
A survey on the current status of clinical resources for diagnosis and treatment of breast cancer in rural hospitals of the Tohoku region in Japan.
- Published in:
- Breast Cancer (13406868), 2021, v. 28, n. 1, p. 161, doi. 10.1007/s12282-020-01144-6
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- Publication type:
- Article
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing–Based Analysis.
- Published in:
- 2015
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- Publication type:
- Journal Article
De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss.
- Published in:
- 2015
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- Publication type:
- Journal Article
Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 49S, doi. 10.1177/0003489415575059
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- Publication type:
- Article
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing–Based Analysis.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 158S, doi. 10.1177/0003489415575058
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- Publication type:
- Article
Germinal Mosaicism in a Family With BO Syndrome.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 118S, doi. 10.1177/0003489415575062
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- Publication type:
- Article
Novel Mutations in GRXCR1 at DFNB25 Lead to Progressive Hearing Loss and Dizziness.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 129S, doi. 10.1177/0003489415575061
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- Publication type:
- Article
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 61S, doi. 10.1177/0003489415575060
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- Publication type:
- Article