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西尾 信哉  ニシオ シンヤ

教員組織電話番号
教育組織医学部 医学科 人工聴覚器学(寄附講座)FAX番号
職名特任講師メールアドレス
住所〒390-8621 長野県松本市旭3-1-1ホームページURL

プロフィール

研究分野
耳鼻咽喉科学
学歴
取得学位
博士(理学) , 信州大学

研究活動業績

研究業績(著書・
発表論文等)
論文
Phylogeny and biogeography of arctic-alpine butterflies of the genus Oeneis (Nymphalidae: Satyrinae)
ENTOMOLOGICAL SCIENCE,24(2):183-195 2021(Jun.)
Author:Usami, Shin-ichi; Isaka, Yuichi; Nishio, Shin-ya; Nakatani, Takatoshi; Itoh, Tateo;
Keywords:Davidina; evolution; Lepidoptera; Nearctic; Nymphalidae; Palearctic; Satyrina;


Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable)
ACTA OTO-LARYNGOLOGICA,141(3):267-272 2021
Author:Nishio, Shin-ya; Tono, Tetsuya; Iwaki, Takako; Moteki, Hideaki; Suzuki, Kumiko; Tsushima, Yui; Kashio, Akinori; Akamatsu, Yusuke; Sato, Hiroaki; Yaegashi, Keiko; Takeda, Hidehiko; Kumagai, Fumiai; Nakashima, Takahiro; Matsuda, Yusuke; Hato, Naohito; Dairoku, Teppei; Shiroma, Masae; Kawai, Ryosuke; Usami, Shin-ichi;
Keywords:Japanese monosyllable perception test; validation; iPad; hearing loss; cochlear implant; hearing aid;


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,25(1):79-83 2021
Author:Isaka, Yuichi; Nishio, Shin-ya; Hishinuma, Eiji; Hiratsuka, Masahiro; Usami, Shin-ichi;
Keywords:aminoglycoside antibiotics; hearing loss; mitochondria; rapid companion diagnostic;


Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
HUMAN GENETICS 2021
Author:Miyoshi, Takushi; Belyantseva, Inna A.; Kitajiri, Shin-Ichiro; Miyajima, Hiroki; Nishio, Shin-Ya; Usami, Shin-Ichi; Kim, Bong Jik; Choi, Byung Yoon; Omori, Koichi; Shroff, Hari; Friedman, Thomas B.;


A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
HUMAN GENETICS,139(10):1315-1323 2020(Oct.)
Author:Walls, W. Daniel; Moteki, Hideaki; Thomas, Taylor R.; Nishio, Shin-ya; Yoshimura, Hidekane; Iwasa, Yoichiro; Frees, Kathy L.; Nishimura, Carla J.; Azaiez, Hela; Booth, Kevin T.; Marini, Robert J.; Kolbe, Diana L.; Weaver, A. Monique; Schaefer, Amanda M.; Wang, Kai; Braun, Terry A.; Usami, Shin-ichi; Barr-Gillespie, Peter G.; Richardson, Guy P.; Smith, Richard J.; Casavant, Thomas L.;


A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4
MEDICINE,99(19) 2020(May)
Author:Fujioka, Masato; Akiyama, Takumi; Hosoya, Makoto; Kikuchi, Kayoko; Fujiki, Yuto; Saito, Yasuko; Yoshihama, Keisuke; Ozawa, Hiroyuki; Tsukada, Keita; Nishio, Shin-ya; Usami, Shin-ichi; Matsunaga, Tatsuo; Hasegawa, Tomonobu; Sato, Yasunori; Ogawa, Kaoru;


Cochlear Implantation From the Perspective of Genetic Background
ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY,303(3):563-593 2020(Mar.)
Author:Usami, Shin-ichi; Nishio, Shin-ya; Moteki, Hideaki; Miyagawa, Maiko; Yoshimura, Hidekane;


Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
GENES,11(3) 2020(Mar.)
Author:Shinagawa, Jun; Moteki, Hideaki; Nishio, Shin-ya; Noguchi, Yoshihiro; Usami, Shin-ichi;


Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss
GENES,11(3) 2020(Mar.)
Author:Oka, Shin-ichiro; Day, Timothy F.; Nishio, Shin-ya; Moteki, Hideaki; Miyagawa, Maiko; Morita, Shinya; Izumi, Shuji; Ikezono, Tetsuo; Abe, Satoko; Nakayama, Jun; Hyogo, Misako; Okamoto, Nobuhiko; Uehara, Natsumi; Oshikawa, Chie; Kitajiri, Shin-ichiro; Usami, Shin-ichi;


Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort
ACTA OTO-LARYNGOLOGICA,140(1):32-39 2020
Author:Kitoh, Ryosuke; Nishio, Shin-Ya; Usami, Shin-Ichi;


Genetic testing has the potential to impact hearing preservation following cochlear implantation
ACTA OTO-LARYNGOLOGICA,140(6):438-444 2020
Author:Yoshimura, Hidekane; Moteki, Hideaki; Nishio, Shin-ya; Miyajima, Hiroki; Miyagawa, Maiko; Usami, Shin-ichi;


Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss
SCIENTIFIC REPORTS,10(1) 2020
Author:Miyajima, Hiroki; Moteki, Hideaki; Day, Timothy; Nishio, Shin-ya; Murata, Takaaki; Ikezono, Tetsuo; Takeda, Hidehiko; Abe, Satoko; Iwasaki, Satoshi; Takahashi, Masahiro; Naito, Yasushi; Yamazaki, Hiroshi; Kanda, Yukihiko; Kitajiri, Shin-ichiro; Usami, Shin-ichi;


A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
HUMAN GENETICS 2020
Author:Walls, W. Daniel; Moteki, Hideaki; Thomas, Taylor R.; Nishio, Shin-ya; Yoshimura, Hidekane; Iwasa, Yoichiro; Frees, Kathy L.; Nishimura, Carla J.; Azaiez, Hela; Booth, Kevin T.; Marini, Robert J.; Kolbe, Diana L.; Weaver, A. Monique; Schaefer, Amanda M.; Wang, Kai; Braun, Terry A.; Usami, Shin-ichi; Barr-Gillespie, Peter G.; Richardson, Guy P.; Smith, Richard J.; Casavant, Thomas L.;


Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing
ACTA OTO-LARYNGOLOGICA,140(8):632-638 2020
Author:Yoshimura, Hidekane; Moteki, Hideaki; Nishio, Shin-ya; Usami, Shin-ichi;


Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort
GENES,10(10) 2019(Oct.)
Author:Maekawa, Karuna; Nishio, Shin-ya; Abe, Satoko; Goto, Shin-ichi; Honkura, Yohei; Iwasaki, Satoshi; Kanda, Yukihiko; Kobayashi, Yumiko; Oka, Shin-ichiro; Okami, Mayuri; Oshikawa, Chie; Sakuma, Naoko; Sano, Hajime; Shirakura, Masayuki; Uehara, Natsumi; Usami, Shin-ichi;


The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
GENES,10(10) 2019(Oct.)
Author:Yasukawa, Rika; Moteki, Hideaki; Nishio, Shin-ya; Ishikawa, Kotaro; Abe, Satoko; Honkura, Yohei; Hyogo, Misako; Mihashi, Ryota; Ikezono, Tetsuo; Shintani, Tomoko; Ogasawara, Noriko; Shirai, Kyoko; Yoshihashi, Hiroshi; Ishino, Takashi; Otsuki, Koshi; Ito, Tsukasa; Sugahara, Kazuma; Usami, Shin-ichi;


Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
GENES,10(9) 2019(Sep.)
Author:Sugiyama, Kenjiro; Moteki, Hideaki; Kitajiri, Shin-ichiro; Kitano, Tomohiro; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Abe, Satoko; Ozaki, Akiko; Motegi, Remi; Matsui, Hirooki; Teraoka, Masato; Kobayashi, Yumiko; Kosho, Tomoki; Usami, Shin-ichi;


Frequency and clinical features of hearing loss caused by STRC deletions
SCIENTIFIC REPORTS,9 2019
Author:Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;


OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
PLOS ONE,14(5) 2019
Author:Iwasa, Yoh-ichiro; Nishio, Shin-ya; Sugaya, Akiko; Kataoka, Yuko; Kanda, Yukihiko; Taniguchi, Mirei; Nagai, Kyoko; Naito, Yasushi; Ikezono, Tetsuo; Horie, Rie; Sakurai, Yuika; Matsuoka, Rina; Takeda, Hidehiko; Abe, Satoko; Kihara, Chiharu; Ishino, Takashi; Morita, Shin-ya; Iwasaki, Satoshi; Takahashi, Masahiro; Ito, Tsukasa; Arai, Yasuhiro; Usami, Shin-ichi;


Comprehensive analysis of syndromic hearing loss patients in Japan
SCIENTIFIC REPORTS,9 2019
Author: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;


Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,20(18) 2019
Author:Kitano, Tomohiro; Kitajiri, Shin-ichiro; Nishio, Shin-ya; Usami, Shin-ichi;


Frequency and clinical features of hearing loss caused by STRC deletions
SCIENTIFIC REPORTS,9 2019
Author:Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;


Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel
MOLECULAR GENETICS & GENOMIC MEDICINE,6(4):678-686 2018(Jul.)
Author:Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;


Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries.
ACTA OTO-LARYNGOLOGICA,138:320-331 2018
Author:Usami, Shin-ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;


WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
PLOS ONE,13(3) 2018
Author: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 rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening
ACTA OTO-LARYNGOLOGICA,138(8):708-712 2018
Author:Moteki, Hideaki; Isaka, Yuichi; Inaba, Yuji; Motobayashi, Mitsuo; Nishio, Shin-Ya; Ohira, Satoshi; Yano, Takuya; Iwasaki, Satoshi; Shiozawa, Tanri; Koike, Kenichi; Usami, Shin-lchi;


Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes
ACTA OTO-LARYNGOLOGICA,138(12):1080-1085 2018
Author:Moteki, Hideaki; Nishio, Shin-Ya; Miyagawa, Maiko; Tsukada, Keita; Noguchi, Yoshihiro; Usami, Shin-Ichi;


Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries (Reprinted from Acta oto-Laryngologica, vol 134, pg 717, 2014)
ACTA OTO-LARYNGOLOGICA,138(3):317-328 2018
Author:Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;


WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
PLOS ONE,13(3) 2018
Author: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;


Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.
Acta Otolaryngol,137(7):730-742 2017(Jul.)
Author:Nishio SY, Usami SI.


指定難病最前線(volume38) アッシャー症候群の特徴と診断基準
新薬と臨牀,66(5):690-695 2017(May)
Author:西尾 信哉, 宇佐美 真一


【難聴の遺伝子解析-臨床応用と病態解明】 先天性難聴の遺伝学的検査 次世代シークエンサーの臨床応用
Otology Japan,27(2):135-140 2017(May)
Author:茂木 英明, 西尾 信哉, 宇佐美 真一


Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Hear Res,348:87-97 2017(May)
Author:Nishio SY, Takumi Y, Usami SI.


Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.
Acta Otolaryngol,137(5):516-521 2017(May)
Author:Moteki H, Nishio SY, Miyagawa M, Tsukada K, Iwasaki S, Usami SI.


POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
PLoS One,12(5):e0177636 2017(May)
Author:Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI.


ゲノム医療時代の遺伝子関連検査の現状と展望(Vol.12) 難聴の遺伝学的検査の現状と展望 若年発症型両側性感音難聴および未診断疾患プロジェクトIRUD
医学のあゆみ,261(4):337-339 2017(Apr.)
Author:西尾 信哉, 宇佐美 真一


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(Mar.)
Author:Nishio SY, Usami SI.


POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss
PLOS ONE,12(5) 2017
Author:Kitano, Tomohiro; Miyagawa, Maiko; Nishio, Shin-ya; Moteki, Hideaki; Oda, Kiyoshi; Ohyama, Kenji; Miyazaki, Hiromitsu; Hidaka, Hiroshi; Nakamura, Ken-ichi; Murata, Takaaki; Matsuoka, Rina; Ohta, Yoko; Nishiyama, Nobuhiro; Kumakawa, Kozo; Furutate, Sakiko; Iwasaki, Satoshi; Yamada, Takechiyo; Ohta, Yumi; Uehara, Natsumi; Noguchi, Yoshihiro; Usami, Shin-ichi;


The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan.
Acta Otolaryngol,137(sup565):S44-S47 2017
Author:Morita S, Fujiwara K, Fukuda A, Fukuda S, Nishio SY, Kitoh R, Hato N, Ikezono T, Ishikawa K, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nishizaki K, Ogawa K, Sano H, Sato H, Sone M, Suzuki M, Takahashi H, Tono T, et al.


The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan.
Acta Otolaryngol,137(sup565):S30-S33 2017
Author:Okada M, Hato N, Nishio SY, Kitoh R, Ogawa K, Kanzaki S, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.


Etiology of single-sided deafness and asymmetrical hearing loss.
Acta Otolaryngol,137(sup565):S2-S7 2017
Author:Usami SI, Kitoh R, Moteki H, Nishio SY, Kitano T, Kobayashi M, Shinagawa J, Yokota Y, Sugiyama K, Watanabe K.


Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss.
Acta Otolaryngol,137(sup565):S24-S29 2017
Author:Kitoh R, Nishio SY, Usami SI.


Epidemiological survey of acute low-tone sensorineural hearing loss.
Acta Otolaryngol,137(sup565):S34-S37 2017
Author:Sato H, Kuwashima S, Nishio SY, Kitoh R, Fukuda S, Hara A, Hato N, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Ogawa K, Sano H, Sone M, Shojaku H, et al.


Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients.
Acta Otolaryngol,137(sup565):S17-S23 2017
Author:Umesawa M, Kobashi G, Kitoh R, Nishio SY, Ogawa K, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.


Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan.
Acta Otolaryngol,137(sup565):S38-S43 2017
Author:Yoshida T, Sone M, Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.


A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases.
Acta Otolaryngol,137(sup565):S53-S59 2017
Author:Matsuda H, Sakamoto K, Matsumura T, Saito S, Shindo S, Fukushima K, Nishio SY, Kitoh R, Shibasaki O, Ito A, Araki R, Usami SI, Suzuki M, Ogawa K, Hasegawa T, Hagiwara Y, Kase Y, Ikezono T.


Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan.
Acta Otolaryngol,137(sup565):S8-S16 2017
Author:Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, et al.


Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis.
Acta Otolaryngol,137(sup565):S48-S52 2017
Author:Wada T, Sano H, Nishio SY, Kitoh R, Ikezono T, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Suzuki M, Takahashi H, Tono T, Yamashita H, Hara A, Usami SI.


Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
PLoS One,11(12):e0166781 2016(Dec.)
Author:Iwasa YI, Nishio SY, Usami SI.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Ann Otol Rhinol Laryngol,125(11):918-923 2016(Nov.)
Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.


Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
EMBO Mol Med,8(11):1310-1324 2016(Nov.)
Author:Ueyama T, Ninoyu Y, Nishio SY, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami SI, Saito N, Kitajiri SI.


Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
PLoS One,11(9):e0162230 2016(Sep.)
Author:Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.


Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
J Hum Genet,61(5):419-22 2016(May)
Author:Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S.


先天性サイトメガロウイルス感染症スクリーニングに関する多施設共同研究結果の検討(第1報)
小児耳鼻咽喉科,37(1):29-34 2016(Apr.)
Author:本林 光雄, 稲葉 雄二, 西岡 誠, 川崎 洋一郎, 井坂 友一, 西尾 信哉, 茂木 英明, 大平 哲史, 岩崎 聡, 中村 友彦, 宇佐美 真一


【新しい指定難病制度を理解する】 耳鼻咽喉科領域の指定難病 若年発症型両側性感音難聴
耳鼻咽喉科・頭頸部外科,88(3):224-232 2016(Mar.)
Author:西尾 信哉, 宇佐美 真一


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.)
Author:Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S.


Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection.
Pediatr Neurol,55:52-7 2016(Feb.)
Author:Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio SY, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.


A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.
Otol Neurotol,37(2):e126-34 2016(Feb.)
Author:Miyagawa M, Nishio SY, Usami S.


Advances in Molecular Genetics and the Molecular Biology of Deafness.
Biomed Res Int,2016:5629093 2016
Author:Nishio SY, Schrauwen I, Moteki H, Azaiez H.


SOD1 gene polymorphisms in sudden sensorineural hearing loss.
Acta Otolaryngol,136(5):465-9 2016
Author:Kitoh R, Nishio SY, Ogawa K, Okamoto M, Kitamura K, Gyo K, Sato H, Nakashima T, Fukuda S, Fukushima K, Hara A, Yamasoba T, Usami S.


Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:61S-76S 2015(May)
Author:Tsukada, Keita; Nishio, Shin-ya; Hattori, Mitsuru; Usami, Shin-ichi;


Mutational Spectrum and Clinical Features of Patients With ACTG1 Mutations Identified by Massively Parallel DNA Sequencing
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:84S-93S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Ichinose, Aya; Iwasaki, Satoshi; Murata, Takaaki; Kitajiri, Shin-ichiro; Usami, Shin-ichi;


Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:49S-60S 2015(May)
Author:Nishio, Shin-ya; Usami, Shin-ichi;


Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:77S-83S 2015(May)
Author:Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-ya; Usami, Shin-ichi;


Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:6S-48S 2015(May)
Author:Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Naito, Takehiko; Yoshimura, Hidekane; Iwasa, Yoh-ichiro; Mori, Kentaro; Shima, Yutaka; Sakuma, Naoko; Usami, Shin-ichi;


The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:193S-204S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Sakurai, Yuika; Hattori, Mitsuru; Tsukada, Keita; Moteki, Hideaki; Kojima, Hiromi; Usami, Shin-ichi;


Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:100S-110S 2015(May)
Author:Tsukada, Keita; Ichinose, Aya; Miyagawa, Maiko; Mori, Kentaro; Hattori, Mitsuru; Nishio, Shin-ya; Naito, Yasushi; Kitajiri, Shin-ichiro; Usami, Shin-ichi;


Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:111S-117S 2015(May)
Author:Iwasa, Yoh-ichiro; Moteki, Hideaki; Hattori, Mitsuru; Sato, Ririko; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;


Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:142S-147S 2015(May)
Author:Ichinose, Aya; Moteki, Hideaki; Hattori, Mitsuru; Nishio, Shin-ya; Usami, Shin-ichi;


Germinal Mosaicism in a Family With BO Syndrome
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:118S-122S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Takumi, Yutaka; Usami, Shin-ichi;


Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:148S-157S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;


Mutations in LOXHDI Gene Cause Various Types and Severities of Hearing Loss
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:135S-141S 2015(May)
Author:Mori, Kentaro; Moteki, Hideaki; Kobayashi, Yumiko; Azaiez, Hela; Booth, Kevin T.; Nishio, Shin-ya; Sato, Hiroaki; Smith, Richard J. H.; Usami, Shin-ichi;


Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:184S-192S 2015(May)
Author:Sakuma, Naoko; Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Takahashi, Masahiro; Arai, Yasuhiro; Shearer, A. Eliot; Sloan, Christina M.; Nishio, Shin-ya; Kolbe, Diana L.; Iwasaki, Satoshi; Oridate, Nobuhiko; Smith, Richard J. H.; Usami, Shin-ichi;


Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:158S-168S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi;


Novel Mutations in GRXCRI at DFNB25 Lead to Progressive Hearing Loss and Dizziness
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:129S-134S 2015(May)
Author:Mori, Kentaro; Miyanohara, Ikuyo; Moteki, Hideaki; Nishio, Shin-ya; Kurono, Yuichi; Usami, Shin-ichi;


The advantages of sound localization and speech perception of bilateral electric acoustic stimulation
ACTA OTO-LARYNGOLOGICA,135(2):147-153 2015(Feb.)
Author:Moteki, Hideaki; Kitoh, Ryosuke; Tsukada, Keita; Iwasaki, Satoshi; Nishio, Shin-Ya; Usami, Shin-Ichi;


Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
GENETIC TESTING AND MOLECULAR BIOMARKERS,19(4):209-217 2015
Author:Nishio, Shin-Ya; Hayashi, Yoshiharu; Watanabe, Manabu; Usami, Shin-Ichi;


難聴における遺伝子医療の現状 : ゲノム医療のモデルとして (第1土曜特集 遺伝子医療の現状とゲノム医療の近未来) -- (遺伝子医療の現状)
医学のあゆみ,250(5):371-377 2014(Aug. 02)
Author:西尾 信哉; 宇佐美 真一;
Keywords:遺伝学的検査; 保険診療; 先天性難聴; 遺伝性難聴; 次世代シークエンサー;


High-Frequency Involved Hearing Loss Caused by Novel Mitochondrial DNA Mutation in 16S Ribosomal RNA Gene
OTOLOGY & NEUROTOLOGY,35(6):1087-1090 2014(Jul.)
Author:Abe, Satoko; Nagano, Makoto; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;


Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries
ACTA OTO-LARYNGOLOGICA,134(7):717-727 2014(Jul.)
Author:Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;


A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations
ACTA OTO-LARYNGOLOGICA,134(6):557-563 2014(Jun.)
Author:Ishikawa, Kotaro; Naito, Takehiko; Nishio, Shin-Ya; Iwasa, Yoh-Ichiro; Nakamura, Ken-Ichi; Usami, Shin-Ichi; Ichimura, Keiichi;


Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
JOURNAL OF HUMAN GENETICS,59(5):262-268 2014(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;


Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening
JOURNAL OF HUMAN GENETICS,59(2):100-106 2014(Feb.)
Author:Yano, Takuya; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;


Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,78(2):285-289 2014(Feb.)
Author:Moteki, Hideaki; Suzuki, Mika; Naito, Yasushi; Fujiwara, Keizo; Oguchi, Kazuhiro; Nishio, Shin-ya; Iwasaki, Satoshi; Usami, Shin-ichi;


人工内耳装用児の聴性行動および認知・発達の伸びに関する検討
AUDIOLOGY JAPAN,57(5):279-280 2014
Author:加藤 理子; 西尾 信哉; 宮川 麻衣子; 工 穣; 宇佐美 真一;


次世代シーケンサーを用いて見出された TMPRSS3 遺伝子変異症例:―臨床像と残存聴力活用型人工内耳術後成績の検討―
AUDIOLOGY JAPAN,57(5):323-324 2014
Author:宮川 麻衣子; 西尾 信哉; 塚田 景大; 茂木 英明; 宇佐美 真一;


携帯端末を活用したリハビリテーション機器の開発を目指して: 67S 語表を用いた語音弁別評価プログラム
AUDIOLOGY JAPAN,57(5):379-380 2014
Author:河合 良介; 岩崎 聡; 西尾 信哉; 塚田 景大; 宇佐美 真一;


日本人難聴遺伝子変異データベースの構築と臨床応用
AUDIOLOGY JAPAN,57(5):463-464 2014
Author:西尾 信哉; 宮川 麻衣子; 内藤 武彦; 岩佐 陽一郎; 市瀬 彩; 宇佐美 真一;


Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
PLOS ONE,9(3) 2014
Author:Yoshimura, Hidekane; Iwasaki, Satoshi; Nishio, Shin-ya; Kumakawa, Kozo; Tono, Tetsuya; Kobayashi, Yumiko; Sato, Hiroaki; Nagai, Kyoko; Ishikawa, Kotaro; Ikezono, Tetsuo; Naito, Yasushi; Fukushima, Kunihiro; Oshikawa, Chie; Kimitsuki, Takashi; Nakanishi, Hiroshi; Usami, Shin-ichi;


Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis
PLOS ONE,9(3) 2014
Author:Yoshimura, Hidekane; Takumi, Yutaka; Nishio, Shin-ya; Suzuki, Nobuyoshi; Iwasa, Yoh-ichiro; Usami, Shin-ichi;


Ubiquinol-10 Supplementation Activates Mitochondria Functions to Decelerate Senescence in Senescence-Accelerated Mice
ANTIOXIDANTS & REDOX SIGNALING,20(16):2606-2620 2014
Author:Tian, Geng; Sawashita, Jinko; Kubo, Hiroshi; Nishio, Shin-ya; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Yoshimura, Hidekane; Tsuruoka, Mineko; Wang, Yaoyong; Liu, Yingye; Luo, Hongming; Xu, Zhe; Mori, Masayuki; Kitano, Mitsuaki; Hosoe, Kazunori; Takeda, Toshio; Usami, Shin-ichi; Higuchi, Keiichi;


Gene Expression Pattern after Insertion of Dexamethasone-Eluting Electrode into the Guinea Pig Cochlea
PLOS ONE,9(10) 2014
Author:Takumi, Yutaka; Nishio, Shin-ya; Mugridge, Kenneth; Oguchi, Tomohiro; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Iwasaki, Satoshi; Jolly, Claude; Usami, Shin-ichi;


軽中等度難聴の遺伝形式・臨床像の検討
Audiology Japan,56(5):349-350 2013(Sep. 30)
Author:市瀬 彩; 西尾 信哉; 宇佐美 真一;


Usher症候群タイプ1における遺伝子検査と耳鼻咽喉科医の役割
Audiology Japan,56(5):369-370 2013(Sep. 30)
Author:吉村 豪兼; 岩崎 聡; 西尾 信哉; 宇佐美 真一; 熊川 孝三; 東野 哲也; 佐藤 宏昭; 長井 今日子; 石川 浩太郎; 池園 哲郎; 内藤 泰; 福島 邦博; 中西 啓;


Auditory neuropathy spectrum disorderに対する遺伝子診断の有用性および遺伝カウンセリング
Audiology Japan,56(5):371-382 2013(Sep. 30)
Author:岩佐 陽一郎; 吉村 豪兼; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;


保険収載後の難聴遺伝子診断の現況
Audiology Japan,56(5):373-374 2013(Sep. 30)
Author:宮川 麻衣子; 西尾 信哉; 宇佐美 真一; 長野 誠; 山口 敏和;


一側性難聴・人工内耳装用患者に関する音源定位検査の検討
Audiology Japan,56(5):441-442 2013(Sep. 30)
Author:鬼頭 良輔; 塚田 景大; 茂木 英明; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;


純音聴力検査をもとにした難聴のパターン解析
Audiology Japan,56(5):527-528 2013(Sep. 30)
Author:鈴木 伸嘉; 西尾 信哉; 宇佐美 真一;


一側難聴によるハンディキャップ-多重ロジスティック回帰分析による評価-
Audiology Japan,56(5):553-554 2013(Sep. 30)
Author:岩崎 聡; 佐野 肇; 西尾 信哉; 工 穣; 岡本 牧人; 宇佐美 真一; 小川 郁;


GJB2遺伝子変異及び蝸牛奇形・蝸牛神経低形成を伴う難聴の人工内耳MCレベルに関する検討
Audiology Japan,56(5):615-616 2013(Sep. 30)
Author:鈴木 美華; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;


残存聴力活用型人工内耳(EAS : electric acoustic stimulation)の聴取能について:低音部残存聴力との相関
Audiology Japan,56(5):641-642 2013(Sep. 30)
Author:塚田 景大; 岩崎 聡; 茂木 英明; 工 穣; 西尾 信哉; 熊川 孝三; 内藤 泰; 高橋 晴雄; 東野 哲也; 宇佐美 真一;


先天性サイトメガロウイルス感染に対するマススクリーニングシステムの確立
Audiology Japan,56(5):703-704 2013(Sep. 30)
Author:矢野 卓也; 岩崎 聡; 西尾 信哉; 工 穣; 茂木 英明; 宇佐美 真一;


長野県難聴児支援センターの取り組み -入園・入学に関する支援について-
Audiology Japan,56(5):707-708 2013(Sep. 30)
Author:前田 麻貴; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 工 穣; 宇佐美 真一;


難聴遺伝子変異が確認された人工内耳装用児における神経反応テレメトリの検討
Audiology Japan,56(3):243-248 2013(Jun. 30)
Author:鈴木 美華; 岩崎 聡; 西尾 信哉; 鬼頭 良輔; 茂木 英明; 工 穣; 宇佐美 真一;
Keywords:難聴遺伝子; 人工内耳; 神経反応テレメトリ; 聴神経複合活動電位;


難聴の遺伝子診断と次世代シークエンス解析 : 保険収載された遺伝子診断からターゲットリシークエンシングとエクソーム解析 (第1土曜特集 エクソーム解析 : 成果と将来) -- (生殖細胞系列変異)
医学のあゆみ,245(5):393-400 2013(May 04)
Author:西尾 信哉; 宇佐美 真一;
Keywords:遺伝学的検査; 保険診療; 先天性難聴; 次世代シークエンサー; Usher症候群;


An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,77(2):298-302 2013(Feb.)
Author:Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;


Auditory neuropathy spectrum disorderに対する遺伝子診断の有用性および遺伝カウンセリング
AUDIOLOGY JAPAN,56(5):371-372 2013
Author:岩佐 陽一郎; 吉村 豪兼; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;


一側性難聴児における先天性サイトメガロウイルス感染症の関与
Otology Japan,23(5):848-853 2013
Author:岩崎 聡; 古館 佐起子; 西尾 信哉; 矢野 卓也; 茂木 英明; 工 穣; 宇佐美 真一;
Keywords:先天性サイトメガロウイルス感染症; 一側性感音難聴; 保存臍帯; 遺伝性難聴;


Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
PLOS ONE,8(5) 2013
Author:Naito, Takehiko; Nishio, Shin-ya; Iwasa, Yoh-ichiro; Yano, Takuya; Kumakawa, Kozo; Abe, Satoko; Ishikawa, Kotaro; Kojima, Hiromi; Namba, Atsushi; Oshikawa, Chie; Usami, Shin-ichi;


Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients
PLOS ONE,8(8) 2013
Author:Miyagawa, Maiko; Naito, Takehiko; Nishio, Shin-ya; Kamatani, Naoyuki; Usami, Shin-ichi;


OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
BMC MEDICAL GENETICS,14 2013
Author:Iwasa, Yoh-ichiro; Nishio, Shin-ya; Yoshimura, Hidekane; Kanda, Yukihiko; Kumakawa, Kozo; Abe, Satoko; Naito, Yasushi; Nagai, Kyoko; Usami, Shin-ichi;


Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS
PLOS ONE,8(10) 2013
Author:Miyagawa, Maiko; Nishio, Shin-ya; Ikeda, Takuo; Fukushima, Kunihiro; Usami, Shin-ichi;


Usher 症候群の臨床的タイプ分類の問題点
日本耳鼻咽喉科學會會報,115(10):894-901 2012(Oct. 20)
Author:岩崎 聡; 吉村 豪兼; 武市 紀人; 佐藤 宏昭; 石川 浩太郎; 加我 君孝; 熊川 孝三; 長井 今日子; 古屋 信彦; 池園 哲郎; 中西 啓; 内藤 泰; 福島 邦博; 東野 哲也; 君付 隆; 西尾 信哉; 工 穣; 宇佐美 真一;
Keywords:アッシャー症候群; 網膜色素変性症; 感音難聴; タイプ分類;


長野県における新生児聴覚スクリーニングの現況
Audiology Japan,55(5):339-340 2012(Sep. 30)
Author:前田 麻貴; 工 穣; 茂木 英明; 宮川 麻衣子; 西尾 信哉; 宇佐美 真一;


片側難聴と両側難聴のハンディーキャップについて-HHIA&VASによる評価
Audiology Japan,55(5):385-386 2012(Sep. 30)
Author:岩崎 聡; 佐野 肇; 西尾 信哉; 工 穣; 岡本 牧人; 宇佐美 真一; 小川 郁;


保険収載となった「先天性難聴の遺伝子診断」の現状について
Audiology Japan,55(5):459-460 2012(Sep. 30)
Author:工 穣; 岩佐 陽一郎; 吉村 豪兼; 矢野 卓也; 内藤 武彦; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 宇佐美 真一;


当科における軽度・中等度難聴児の言語発達の検討
Audiology Japan,55(5):473-474 2012(Sep. 30)
Author:鈴木 美華; 茂木 英明; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;


高度・重度感音難聴患者におけるOTOF遺伝子変異解析
Audiology Japan,55(5):589-590 2012(Sep. 30)
Author:岩佐 陽一郎; 西尾 信哉; 吉村 豪兼; 宇佐美 真一; 神田 幸彦; 阿部 聡子; 熊川 孝三; 内藤 泰;


高音急墜型難聴の語音弁別能の検討
Audiology Japan,55(5):595-596 2012(Sep. 30)
Author:渡邊 舞; 西尾 信哉; 茂木 英明; 工 穣; 岩崎 聡; 宇佐美 真一;


難治性内耳疾患の遺伝子バンク構築-突発性難聴の候補遺伝子関連解析
Audiology Japan,55(5):611-612 2012(Sep. 30)
Author:鬼頭 良輔; 西尾 信哉; 宇佐美 真一;


TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
JOURNAL OF HUMAN GENETICS,57(9):587-592 2012(Sep.)
Author:Moteki, Hideaki; Nishio, Shin-ya; Hashimoto, Shigenari; Takumi, Yutaka; Iwasaki, Satoshi; Takeichi, Norihito; Fukuda, Satoshi; Usami, Shin-ichi;


人工内耳と補聴器の装用開始年齢による言語発達検査結果の検討
Audiology Japan,55(3):175-181 2012(Jun. 30)
Author:山田 奈保子; 西尾 信哉; 岩崎 聡; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
Keywords:人工内耳; 手術年齢; 言語発達; 感覚器障害戦略研究(聴覚分野);


難聴児における低出生時体重児の占める割合およびその言語発達に関する検討
Audiology Japan,55(2):146-151 2012(Apr. 28)
Author:西尾 信哉; 岩崎 聡; 宇佐美 真一; 笠井 紀夫; 福島 邦博;
Keywords:難聴; 低出生体重; 言語発達; 発達障害;


Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
ACTA OTO-LARYNGOLOGICA,132(4):377-384 2012(Apr.)
Author:Usami, Shin-ichi; Miyagawa, Maiko; Nishio, Shin-Ya; Moteki, Hideaki; Takumi, Yutaka; Suzuki, Mika; Kitano, Yoko; Iwasaki, Satoshi;


Usher 症候群の全国アンケート調査結果の検討
Otology Japan,22(1):40-46 2012(Feb. 29)
Author:吉村 豪兼; 岩崎 聡; 中西 啓; 西尾 信哉; 岩佐 陽一郎; 工 穣; 宇佐美 真一;
Keywords:難聴; 網膜色素変性症; 疫学調査;


人工内耳装用時期と言語発達の検討 : 全国多施設調査研究結果
Audiology Japan,55(1):56-60 2012(Feb. 28)
Author:岩崎 聡; 西尾 信哉; 茂木 英明; 工 穣; 笠井 紀夫; 福島 邦博; 宇佐美 真一;
Keywords:人工内耳; 言語発達; 語音明瞭度; コミュニケーション;


人工内耳装用時期と言語発達の検討—全国多施設調査研究結果—
AUDIOLOGY JAPAN,55(1):56-60 2012
Author:岩崎 聡; 西尾 信哉; 茂木 英明; 工 穣; 笠井 紀夫; 福島 邦博; 宇佐美 真一;
Keywords:人工内耳; 言語発達; 語音明瞭度; コミュニケーション;


難聴児における低出生時体重児の占める割合およびその言語発達に関する検討
AUDIOLOGY JAPAN,55(2):146-151 2012
Author:西尾 信哉; 岩崎 聡; 宇佐美 真一; 笠井 紀夫; 福島 邦博;
Keywords:難聴; 低出生体重; 言語発達; 発達障害;


人工内耳と補聴器の装用開始年齢による言語発達検査結果の検討
AUDIOLOGY JAPAN,55(3):175-181 2012
Author:山田 奈保子; 西尾 信哉; 岩崎 聡; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
Keywords:人工内耳; 手術年齢; 言語発達; 感覚器障害戦略研究 (聴覚分野);


Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study
PLOS ONE,7(2) 2012
Author:Usami, Shin-ichi; Nishio, Shin-ya; Nagano, Makoto; Abe, Satoko; Yamaguchi, Toshikazu; Deafness Gene Study Consortium;


Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
PLOS ONE,7(8) 2012
Author:Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi;


残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) の長期装用者3症例における術後成績
Audiology Japan,54(6):678-685 2011(Dec. 28)
Author:茂木 英明; 西尾 信哉; 宮川 麻衣子; 工 穣; 岩崎 聡; 宇佐美 真一;
Keywords:残存聴力; 人工内耳; 補聴器; 聴取成績;


残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) : 手術法と聴力保存成績について
Otology Japan,21(5):763-770 2011(Dec. 26)
Author:宇佐美 真一; 茂木 英明; 宮川 麻衣子; 内藤 武彦; 西尾 信哉; 工 穣; 岩崎 聡;
Keywords:残存聴力型人工内耳; EAS; 聴力温存; 正円窓アプローチ;


残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) : 術後聴取能における検討
Otology Japan,21(5):771-776 2011(Dec. 26)
Author:茂木 英明; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;
Keywords:残存聴力; 人工内耳; 補聴器;


Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations
ACTA OTO-LARYNGOLOGICA,131(11):1232-1236 2011(Nov.)
Author:Moteki, Hideaki; Naito, Yasushi; Fujiwara, Keizo; Kitoh, Ryosuke; Nishio, Shin-ya; Oguchi, Kazuhiro; Takumi, Yutaka; Usami, Shin-ichi;


補聴手段(人工内耳装用の有無)による言語発達の相違について
Audiology Japan,54(5):379-380 2011(Sep. 30)
Author:川端 右子; 西尾 信哉; 岩崎 聡; 茂木 英明; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;


人工内耳手術年齢による言語発達検査の検討 : 感覚器障害戦略研究・症例対象研究結果から
Audiology Japan,54(5):381-382 2011(Sep. 30)
Author:山田 奈保子; 西尾 信哉; 岩崎 聡; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;


人工内耳装用児の神経反応テレメトリに関する検討
Audiology Japan,54(5):389-390 2011(Sep. 30)
Author:鈴木 美華; 西尾 信哉; 茂木 英明; 工 穣; 宇佐美 真一;


残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) の長期装用者3症例における術後成績
Audiology Japan,54(5):391-392 2011(Sep. 30)
Author:茂木 英明; 宮川 麻衣子; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;


難聴児の言語発達に影響を及ぼす要因に関する研究 : 感覚器障害(聴覚)戦略研究・症例対象研究より
Audiology Japan,54(5):523-524 2011(Sep. 30)
Author:西尾 信哉; 岩崎 聡; 宇佐美 真一; 福島 邦博; 笠井 紀夫;


先進医療「先天性難聴の遺伝子診断」の現状
Audiology Japan,54(5):595-596 2011(Sep. 30)
Author:工 穣; 岩佐 陽一郎; 吉村 豪兼; 矢野 卓也; 内藤 武彦; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 宇佐美 真一;


Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord
ACTA OTO-LARYNGOLOGICA,131(9):976-982 2011(Sep.)
Author:Furutate, Sakiko; Iwasaki, Satoshi; Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;


Achievement of hearing preservation in the presence of an electrode covering the residual hearing region
ACTA OTO-LARYNGOLOGICA,131(4):405-412 2011(Apr.)
Author:Usami, Shin-Ichi; Moteki, Hideaki; Suzuki, Nobuyoshi; Fukuoka, Hisakuni; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Jolly, Claude;


残存聴力活用型人工内耳 (EAS: electric acoustic stimulation) の長期装用者3症例における術後成績
AUDIOLOGY JAPAN,54(6):678-685 2011
Author:茂木 英明; 西尾 信哉; 宮川 麻衣子; 工 穣; 岩崎 聡; 宇佐美 真一;
Keywords:残存聴力; 人工内耳; 補聴器; 聴取成績;


補聴手段(人工内耳/補聴器)による言語発達検査と背景の検討 : 感覚器障害戦略研究・症例対照研究結果から : 第1報
Audiology Japan,53(5):573-574 2010(Oct. 15)
Author:岩崎 聡; 西尾 信哉; 川端 右子; 鈴木 宏明; 茂木 英明; 工 穣; 宇佐美 真一; 笠井 紀夫; 福島 邦博;


無症候性先天性サイトメガロウイルス難聴児の脳機能評価
Audiology Japan,53(5):651-652 2010(Oct. 15)
Author:鈴木 美華; 茂木 英明; 鬼頭 良輔; 西尾 信哉; 工 穣; 宇佐美 真一; 岩崎 聡; 藤原 敬三; 内藤 泰; 北野 庸子;


残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) を使用した一症例 : 人工内耳手術における残存聴力保存の試み
Otology Japan,20(3):151-155 2010(Jul. 25)
Author:宇佐美 真一; 工 穣; 鈴木 伸嘉; 茂木 英明; 宮川 麻衣子; 西尾 信哉;
Keywords:残存聴力; 人工内耳; 補聴器; 低侵襲手術;


Replication initiator protein mRNA of ColE2 plasmid and its antisense regulator RNA are under the control of different degradation pathways (vol 59, pg 102, 2008)
PLASMID,62(3):206-206 2009(Nov.)
Author:Nishio, Shin-ya; Itoh, Tateo;


Arginine-rich RNA binding domain and protein scaffold domain of RNase E are important for degradation of RNAI but not for that of the Rep mRNA of the ColE2 plasmid
PLASMID,62(2):83-87 2009(Sep.)
Author:Nishio, Shin-ya; Itoh, Tateo;


The effects of RNA degradation enzymes on antisense RNAI controlling ColE2 plasmid copy number
PLASMID,60(3):174-180 2008(Nov.)
Author:Nishio, Shin-ya; Itoh, Tateo;


難聴の遺伝子検査と遺伝カウンセリングの全国共同研究 : 変異の検出頻度と患者アンケート調査について
Audiology Japan,51(5):565-566 2008(Sep. 05)
Author:宇佐美 真一; 工 穣; 茂木 英明; 鬼頭 良輔; 菊池 景子; 西尾 信哉;


Importance of the leader region of mRNA for translation initiation of ColE2 Rep protein
PLASMID,58(3):249-260 2007(Nov.)
Author:Nagase, Tomomi; Nishio, Shin-Ya; Itoh, Tateo;


ColE2プラスミド複製開始タンパクの翻訳調節機構
日本分子生物学会年会プログラム・講演要旨集,21 1998(Dec. 01)
Author:西尾 信哉; 伊藤 建夫;


ColE2プラスミド複製開始部位の構造と機能の解析
日本分子生物学会年会プログラム・講演要旨集,21 1998(Dec. 01)
Author:黒住 英樹; 汪 富成; 伊藤 淳一; 谷垣 岳人; 西尾 信哉; 矢倉 勝; 伊藤 建夫;


講演・口頭発表等
日本人難聴患者におけるPOU3F4遺伝子変異の検討
耳鼻咽喉科臨床 補冊 150 105 2017(Jul.)
Presenter:杉山 健二郎, 茂木 英明, 西尾 信哉, 宇佐美 真一


次世代シーケンサーを用いた日本人難聴患者におけるEYA4遺伝子変異の検討
耳鼻咽喉科臨床 補冊 150 106 2017(Jul.)
Presenter:品川 潤, 茂木 英明, 西尾 信哉, 宇佐美 真一


WFS1遺伝子変異が同定された優性遺伝形式遺伝性難聴の1家系
日本耳鼻咽喉科学会会報 120 4 548 2017(Apr.)
Presenter:石川 浩太郎, 西尾 信哉, 宇佐美 真一


外耳、中耳奇形例に対するHOXA2遺伝子解析
日本耳鼻咽喉科学会会報 120 4 548 2017(Apr.)
Presenter:野口 佳裕, 西尾 信哉, 和佐野 浩一郎, 宇佐美 真一


次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例
日本耳鼻咽喉科学会会報 120 4 548 2017(Apr.)
Presenter:北野 友裕, 宮川 麻衣子, 西尾 信哉, 茂木 英明, 野口 佳裕, 宇佐美 真一


次世代シーケンサにより見出されたWFS1遺伝変異の聴力像の検討
日本耳鼻咽喉科学会会報 120 4 549 2017(Apr.)
Presenter:小林 正史, 宮川 麻衣子, 西尾 信哉, 茂木 英明, 野口 佳裕, 宇佐美 真一


先天性サイトメガロウイルス感染による難聴 長野県新生児9,000名に対するスクリーニングプロジェクト
日本耳鼻咽喉科学会会報 120 4 588 2017(Apr.)
Presenter:茂木 英明, 西尾 信哉, 宮川 麻衣子, 矢野 卓也, 岩崎 聡, 宇佐美 真一


先天性サイトメガロウイルス感染児の聴力・神経学的予後に関する前方視的臨床研究(第2報)
日本小児科学会雑誌 121 3 642 2017(Mar.)
Presenter:高附 充帆, 本林 光雄, 山本 哲也, 西尾 信哉, 茂木 英明, 大平 哲史, 塩沢 丹里, 岩崎 聡, 宇佐美 真一, 稲葉 雄二


HOXA2変異によるアブミ骨奇形を呈する常染色体優性遺伝性混合性難聴
Otology Japan 26 4 244 2016(Sep.)
Presenter:野口 佳裕, 西尾 信哉, 宇佐美 真一


先天性難聴の遺伝学的検査 次世代シーケンサーの臨床応用
Otology Japan 26 4 256 2016(Sep.)
Presenter:茂木 英明, 西尾 信哉, 宇佐美 真一


難聴に対する遺伝学的診断の検討
Otology Japan 26 4 257 2016(Sep.)
Presenter:佐久間 直子, 茂木 英明, 高橋 優宏, 荒井 康裕, 西尾 信哉, 折舘 伸彦, 宇佐美 真一


当科データベースにおける次世代シーケンサーを用いたOTOF遺伝子の変異解析
Otology Japan 26 4 259 2016(Sep.)
Presenter:岩佐 陽一郎, 西尾 信哉, 宇佐美 真一


遺伝子の発現変化や調節機構から中耳真珠腫の成因を考える mRNAスプライシング・バリアントとDNAメチル化の検討
Otology Japan 26 4 261 2016(Sep.)
Presenter:工 穣, 西尾 信哉, 鈴木 宏明, 宇佐美 真一


残存聴力活用型人工内耳(EAS:Electric Acoustic Stimulation)における残存聴力と聴取成績
Otology Japan 26 4 272 2016(Sep.)
Presenter:茂木 英明, 宮川 麻衣子, 西尾 信哉, 塚田 景大, 工 穣, 岩崎 聡, 宇佐美 真一


突発性難聴の治療効果と関連する遺伝子多型の検討 難治性内耳疾患の遺伝子バンクプロジェクト
Otology Japan 26 4 276 2016(Sep.)
Presenter:鬼頭 良輔, 西尾 信哉, 宇佐美 真一


人工内耳装用患者の遺伝学的背景とその装用成績
Otology Japan 26 4 358 2016(Sep.)
Presenter:宮川 麻衣子, 西尾 信哉, 宇佐美 真一


常染色体劣性遺伝形式をとるGJB2遺伝子変異の日本人における保因者頻度
Otology Japan 26 4 622 2016(Sep.)
Presenter:北尻 真一郎, 谷口 美玲, 西尾 信哉, 宇佐美 真一, 大森 孝一


次世代シーケンサーをベースにした19遺伝子154変異の難聴遺伝学的検査
Otology Japan 26 4 623 2016(Sep.)
Presenter:森 健太郎, 西尾 信哉, 宇佐美 真一


当科における難聴遺伝子解析の検討
Otology Japan 26 4 624 2016(Sep.)
Presenter:上原 奈津美, 山下 大介, 堀地 祐人, 勝沼 紗矢香, 柿木 章伸, 丹生 健一, 西尾 信哉, 宇佐美 真一


次世代シーケンサーにより見出されたPOU4F3遺伝子変化症例の臨床像
Otology Japan 26 4 625 2016(Sep.)
Presenter:北野 友裕, 宮川 麻衣子, 西尾 信哉, 茂木 英明, 野口 佳裕, 宇佐美 真一


次世代シーケンサーを用いた日本人症候群性難聴の遺伝子解析
Otology Japan 26 4 628 2016(Sep.)
Presenter:出浦 美智恵, 西尾 信哉, 宇佐美 真一


聴覚障害の画像診断と聴覚機能検査 近赤外分光分析法(fNIRS:functional near-infrared spectroscopy)による聴覚脳機能イメージングの試み 「不快状態」を可視化できるか
Audiology Japan 59 5 307-308 2016(Sep.)
Presenter:茂木 英明, 西尾 信哉, 宇佐美 真一


人工内耳埋め込み術を行ったCDH23複合ヘテロ接合体変異を有する同胞2例
Audiology Japan 59 5 357-358 2016(Sep.)
Presenter:山口 智也, 岡野 高之, 山本 典生, 山崎 博司, 西尾 信哉, 宇佐美 真一, 山口 忍, 近藤 香菜子, 石田 愛, 大森 孝一


臨床情報調査票を用いた突発性難聴の疫学調査 治療内容についての検討
Audiology Japan 59 5 521-522 2016(Sep.)
Presenter:鬼頭 良輔, 西尾 信哉, 宇佐美 真一


耳鼻咽喉科医療最前線 難聴の遺伝子診断の臨床応用
耳鼻咽喉科臨床 補冊 146 49 2016(Jun.)
Presenter:西尾 信哉


保存臍帯で診断し人工内耳埋込術を行った先天性CMV感染による小児難聴の1例
耳鼻咽喉科臨床 補冊 146 92 2016(Jun.)
Presenter:石川 浩太郎, 西尾 信哉, 岩崎 聡, 宇佐美 真一