Search Results - "Miyanohara, Ikuyo"

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis by Kobayashi, Masafumi, Miyagawa, Maiko, Nishio, Shin-Ya, Moteki, Hideaki, Fujikawa, Taro, Ohyama, Kenji, Sakaguchi, Hirofumi, Miyanohara, Ikuyo, Sugaya, Akiko, Naito, Yasushi, Morita, Shin-Ya, Kanda, Yukihiko, Takahashi, Masahiro, Ishikawa, Kotaro, Nagano, Yuki, Tono, Tetsuya, Oshikawa, Chie, Kihara, Chiharu, Takahashi, Haruo, Noguchi, Yoshihiro, Usami, Shin-Ichi

“…A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like…”
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Comprehensive analysis of syndromic hearing loss patients in Japan by Ideura, Michie, Nishio, Shin-ya, Moteki, Hideaki, Takumi, Yutaka, Miyagawa, Maiko, Sato, Teruyuki, Kobayashi, Yumiko, Ohyama, Kenji, Oda, Kiyoshi, Matsui, Takamichi, Ito, Tsukasa, Suzumura, Hiroshi, Nagai, Kyoko, Izumi, Shuji, Nishiyama, Nobuhiro, Komori, Manabu, Kumakawa, Kozo, Takeda, Hidehiko, Kishimoto, Yoko, Iwasaki, Satoshi, Furutate, Sakiko, Ishikawa, Kotaro, Fujioka, Masato, Nakanishi, Hiroshi, Nakayama, Jun, Horie, Rie, Ohta, Yumi, Naito, Yasushi, Kakudo, Mariko, Sakaguchi, Hirofumi, Kataoka, Yuko, Sugahara, Kazuma, Hato, Naohito, Nakagawa, Takashi, Tsuchihashi, Nana, Kanda, Yukihiko, Kihara, Chiharu, Tono, Tetsuya, Miyanohara, Ikuyo, Ganaha, Akira, Usami, Shin-ichi

“…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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Novel Mutations in GRXCR1 at DFNB25 Lead to Progressive Hearing Loss and Dizziness by Mori, Kentaro, Miyanohara, Ikuyo, Moteki, Hideaki, Nishio, Shin-ya, Kurono, Yuichi, Usami, Shin-ichi

“…Objective: We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss. Methods: One thousand one hundred…”
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A case of cochlear nerve deficiency without profound sensorineural hearing loss by Miyanohara, Ikuyo, Miyashita, Keiichi, Takumi, Koji, Nakajo, Masayuki, Kurono, Yuichi

“…To describe a case of cochlear nerve deficiency (CND) with unique otologic findings. A 6-year-old girl. Magnetic resonance imaging, pure tone audiometry,…”
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Guiding principles of sublingual immunotherapy for allergic rhinitis in Japanese patients by Masuyama, Keisuke, Goto, Minoru, Takeno, Sachio, Ohta, Nobuo, Okano, Mitsuhiro, Kamijo, Atsushi, Suzuki, Motohiko, Terada, Tetsuya, Sakurai, Daiju, Horiguchi, Shigetoshi, Honda, Kohei, Matsune, Shoji, Yamada, Takechiyo, Sakashita, Masafumi, Yuta, Atsushi, Fuchiwaki, Takashi, Miyanohara, Ikuyo, Nakayama, Takeo, Okamoto, Yoshitaka, Fujieda, Shigeharu

“…Abstract Objective Sublingual immunotherapy (SLIT) appears to offer practical advantages for the treatment of allergic rhinitis (AR). Based on a review of the…”
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Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss by Miyanohara, Ikuyo, Ohori, Junichiro, Tabuchi, Minako, Nishio, Shin-Ya, Yamashita, Masaru, Usami, Shin-Ichi

“…Hearing loss (HL) is a common and multi-complex etiological deficit that can occur at any age and can be caused by genetic variants, aging, toxic drugs, noise,…”
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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 by Miyagawa, Maiko, Nishio, Shin-Ya, Usami, Shin-Ichi

“…Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular…”
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A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan by Yoshimura, Hidekane, Nishio, Shin-ya, Isaka, Yuichi, Kurokawa, Toru, Usami, Shin-ichi

“…Usher syndrome (USH) typically leads to deaf-blindness, requiring the provision of extensive education and rehabilitation services. Therefore, investigating…”
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Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness by Mori, Kentaro, Miyanohara, Ikuyo, Moteki, Hideaki, Nishio, Shin-Ya, Kurono, Yuichi, Usami, Shin-Ichi

“…We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss. One thousand one hundred twenty Japanese hearing…”
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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 by Yano, Takuya, Nishio, Shin-ya, Usami, Shin-ichi

“…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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Application of YAMIK sinus catheter for patients with paranasal sinusitis with and without nasal allergy by Matsune, Shoji, Miyanohara, Ikuyo, Ohyama, Masaru, Kurono, Yuichi

“…Purpose: YAMIK sinus catheter (YAMIK) has already been reported to be a useful therapeutic device for sinusitis cases. The purpose of this study was to compare…”
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Clinical aspects of inferior pole peritonsillar abscess by Hayamizu, Yoshiko, Miyanohara, Ikuyo, Fukuyama, Satoshi, Deguchi, Koji, Kurono, Yuichi

“…In most peritonsillar abscess, the lesion is usually found in the superior pole of the palatine tonsil and typical symptoms such as trismus and resting of…”
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A case of pediatric recurrent acute mastoiditis caused by penicillin-resistant Streptococcus pneumonia complicated by primary immunodeficiency by Fukuiwa, T, Ushikai, M, Miyanohara, I, Matsune, S, Kurono, Y

“…Penicillin-resistant Streptococcus pneumoniae (PRSP) is a frequently detected pathogen of intractable acute otitis media and is associated with prolonged or…”
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