Search Results - "Nagai, Kyoko"
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Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
Published in Human genetics (01-04-2022)“…Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is…”
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2
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
Published in PloS one (16-05-2019)“…The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also…”
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Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
Published in Human genetics (01-04-2022)Get full text
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4
Magnetic resonance imaging-based radiomics analysis of the differential diagnosis of ovarian clear cell carcinoma and endometrioid carcinoma: a retrospective study
Published in Japanese journal of radiology (01-07-2024)“…Purpose To retrospectively evaluate the diagnostic potential of magnetic resonance imaging (MRI)-based features and radiomics analysis (RA)-based features for…”
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5
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1
Published in PloS one (11-03-2014)“…Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical…”
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6
Panhypopituitarism diagnosed in adulthood: Imaging findings of bone and other organs
Published in Radiology case reports (01-10-2023)“…A 38-year-old man who was delivered in a breech position presented with delayed development of secondary sexual characteristics and malaise. He was diagnosed…”
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7
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
Published in BMC genetics (22-09-2013)“…Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR),…”
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Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns
Published in Journal of human genetics (01-02-2005)“…Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations. Genetic testing offers opportunities…”
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Congenital Arhinia: A Case Report and Functional Evaluation
Published in The Laryngoscope (01-06-2005)“…Objectives: Congenital arhinia is rare clinical entity. An unusual case of congenital arhinia with no surgical treatment is presented. Study Design: Case…”
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10
Problem and assignment for distinguishing the Usher syndrome type
Published in Nippon Jibi Inkoka Gakkai Kaiho (01-10-2012)“…Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular…”
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11
当院補聴器外来における老人性難聴に対する補聴器適合の現況
Published in AUDIOLOGY JAPAN (28-04-2016)“…要旨: 当院は, 耳鼻咽喉科一般診療に加え, 聞こえや言葉の遅れに対する専門外来を併設したクリニックとして, 平成26年6月に開院した。本報告では, 平成26年6月から平成27年6月までの期間に, 補聴器相談目的で受診した高齢者94例の補聴器適合の現況と, 購入後の経過について報告する。対象者の平均年齢は,…”
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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Published in Scientific reports (09-04-2024)“…The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal…”
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Comprehensive analysis of syndromic hearing loss patients in Japan
Published in Scientific reports (19-08-2019)“…More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this…”
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Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
Published in Journal of human genetics (01-05-2014)“…Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular…”
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15
Collateral pulmonary vein after catheter ablation therapy for atrial fibrillation
Published in BJR case reports (16-07-2021)“…A patient with previous catheter ablation therapy for atrial fibrillation was examined for an abnormal shadow on a chest radiograph. ECG-gated multidetector CT…”
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Hearing aid fitting for elderly hearing impaired at our clinic
Published in AUDIOLOGY JAPAN (28-04-2016)“…Our facility was inaugurated in June 2014 as a clinic that provides specialized outpatient treatment for patients with hearing impairment and delayed language…”
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17
Partially implantable piezoelectric middle ear hearing device. Long-term results
Published in Otolaryngologic clinics of North America (01-02-1995)“…In accordance with the 1992-1993 Japanese government approval of production and implementation in the health insurance system of the partially implantable…”
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Long-term clinical results of the partially implantable piezoelectric middle ear implant
Published in Ear, nose, & throat journal (01-02-1994)Get more information
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Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening
Published in Journal of human genetics (01-02-2014)“…Mutations in mitochondrial DNA (mtDNA) are reported to be responsible for the pathogenesis of maternally inherited hearing loss. Complete mtDNA sequencing may…”
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Hearing aid fitting for elderly hearing impaired at our clinic
Published in Audiology Japan (2016)Get full text
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