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1.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Hum Genet
; 143(5): 721-734, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38691166
2.
Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue.
Int J Mol Sci
; 25(5)2024 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38474154
3.
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Hum Genet
; 141(3-4): 665-681, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34599366
4.
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Hum Genet
; 141(3-4): 929-937, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34523024
5.
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.
Hum Genet
; 141(3-4): 903-914, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35020051
6.
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Hum Genet
; 141(3-4): 363-382, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34232383
7.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet
; 141(3-4): 865-875, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34536124
8.
Genetic background in late-onset sensorineural hearing loss patients.
J Hum Genet
; 67(4): 223-230, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34824372
9.
A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.
BMC Neurol
; 21(1): 243, 2021 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34171997
10.
Two-phase survey on the frequency of use and safety of MRI for hearing implant recipients.
Eur Arch Otorhinolaryngol
; 278(11): 4225-4233, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33788034
11.
Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?
ORL J Otorhinolaryngol Relat Spec
; 83(3): 196-202, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33588412
12.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Hum Genet
; 139(10): 1315-1323, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32382995
13.
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
Int J Mol Sci
; 20(18)2019 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-31527509
14.
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Hum Mutat
; 38(3): 252-259, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28008688
15.
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet
; 141(3-4): 993-995, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34727261
16.
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Am J Hum Genet
; 95(4): 445-53, 2014 Oct 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-25262649
17.
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
J Hum Genet
; 61(5): 419-22, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26791358
18.
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
J Hum Genet
; 61(3): 253-61, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26763877
19.
Towards a Unified Testing Framework for Single-Sided Deafness Studies: A Consensus Paper.
Audiol Neurootol
; 21(6): 391-398, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28319951
20.
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
J Hum Genet
; 60(10): 613-7, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26178431