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Nishio Shinya  西尾 信哉

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… Alternative Names

NISHIO Shin-ya  西尾 信哉

NISHIO Shinya  西尾 信哉

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Researcher Number 70467166
Other IDs
Affiliation (Current) 2025: 信州大学, 医学部, 特任講師
Affiliation (based on the past Project Information) *help 2017 – 2024: 信州大学, 医学部, 特任講師
2015 – 2017: 信州大学, 学術研究院医学系, 助教
2015: 信州大学, 医学部, 助教
2013: 信州大学, 医学部, 助教
2012: 信州大学, 医学部, 助教(特定雇用) … More
2011: 信州大学, 医学部, 助教
2010: Shinshu University, 医学部, 研究員
2009: Shinshu University, 医学部附属病院, 研究員
2008: Shinshu University, 医学部・附属病院, 研究員 Less
Review Section/Research Field
Principal Investigator
Otorhinolaryngology / Basic Section 56050:Otorhinolaryngology-related
Except Principal Investigator
Otorhinolaryngology / Basic Section 56050:Otorhinolaryngology-related / Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields / Surgery related to the biological and sensory functions and related fields / 宇宙生命学
Keywords
Principal Investigator
内耳 / 遺伝子発現 / 聴覚 / 難聴 / 遺伝子 / RNA-Seq / マイクロRNA / 空間トランスクリプトーム / 遺伝性難聴 / 次世代シークエンサー … More / ゲノム / マウス / alternative splicing / 聴覚医学 / KCNQ4 / DNAマイクロアレイ / 老人性難聴 / 遺伝子発現調節 / 耳科学 / 遺伝子発現パターン … More
Except Principal Investigator
遺伝子 / 難聴 / 内耳 / 耳科学 / 遺伝性難聴 / 遺伝子発現 / 次世代シークエンサー / 聴覚 / ゲノム / 感音難聴 / レーザーマイクロダイセクション / 遺伝子発現パターン / 老人性難聴 / ANSD / 人工内耳 / 聴覚医学 / OTOF / SNPs / 突発性難聴 / マイクロアレイ / 遺伝学 / 前庭 / 微小重力 / ミトコンドリア / 病態解明 / アーカイブ / 側頭骨標本 / アーカイブ標本 / 次世代シークエンス / 標本 / 疫学調査 / 細分化アプローチ / GWAS / バイオバンク横断検索システム / ゲノムワイド関連解析 / 治療アルゴリズム / cochlear implant / hereditary hearing loss / auditory neuropathy / 内耳奇形 / 細胞生物学 / MYPT / 機能解析 / 新規変異 / リポジトリ / TRIOBP / 内耳機能 / EPHA2 / POLD1 / MYO6 / OTOA / CLDN14 / DIAPH1 / Littlears / 創薬 / 疾患iPS研究 / iPS細胞 / 候補遺伝子関連解析 / SNP / 先天性難聴 / Auditory neuropathy / 宇宙 / 宇宙生命科学 / 末梢前庭器 / 平衡 / 聴力型 / KCNQ4 / Auditory Neuropathy / オーディとリーニューロパチー / 遺伝子多型 / 酸化ストレス / 医療・福祉 / DNAマイクロアレイ / 微少重力 / 神経可塑性 / DNA量 / Real-Time PCR解析 / 保存臍帯 / 先天性サイトメガロウイルス感染症 / 検査 / 先天性CMV感染症 / 先天CMV感染症 / 多型 / 細胞外マトリソクス / 家系調査 / PCR / スクリーニング / CDH23 / WFS1遺伝子 / 低音障害型感音難聴 / 電子顕微鏡 / 細胞外マトリックス / バリアント / マウス / 発現解析 / RNA / コラーゲン / 細胞外基質 / ラセン靭帯 / 血管条 / 蓋膜 / 難聴遺伝子 / 細胞外マトリクス / リアルタイムPCR / 微量検体 / 耳下腺 / 唾液腺腫瘍 / 耳下腺腫瘍 / 頭頸部腫瘍 / SAMマウス / 高音障害型感音難聴 / SAM / 高音障害型難聴 Less
  • Research Projects

    (30 results)
  • Research Products

    (217 results)
  • Co-Researchers

    (32 People)
  •  Spatial transcriptome analysis of Human inner earPrincipal Investigator

    • Principal Investigator
      西尾 信哉
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56050:Otorhinolaryngology-related
    • Research Institution
      Shinshu University
  •  Elucidation of the pathogenesis of idiopathic sudden hearing loss by genetic and epidemiological segmental approaches to establish optimal treatment

    • Principal Investigator
      Kitoh Ryosuke
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56050:Otorhinolaryngology-related
    • Research Institution
      Shinshu University
  •  Genetic alalysis of archived human temporal bone specimens

    • Principal Investigator
      Usami Shin-ichi
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Review Section
      Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields
    • Research Institution
      Shinshu University
  •  Gene expression analysis of Human inner earPrincipal Investigator

    • Principal Investigator
      NISHIO Shin-ya
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56050:Otorhinolaryngology-related
    • Research Institution
      Shinshu University
  •  Identification of novel causative gene of auditory neuropathy spectrum disorder

    • Principal Investigator
      Noguchi Yoshihiro
    • Project Period (FY)
      2019 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56050:Otorhinolaryngology-related
    • Research Institution
      International University of Health and Welfare
      Shinshu University
  •  Gene expression profiles in mice cochlearPrincipal Investigator

    • Principal Investigator
      Nishio Shin-ya
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Modeling inner ear cilliopathy using patient derived iPS cells

    • Principal Investigator
      FUJIOKA Masato
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Research Field
      Surgery related to the biological and sensory functions and related fields
    • Research Institution
      Keio University
  •  The comprehesive analysis of human hereditary deafness

    • Principal Investigator
      Kitajiri Shin-ichiro
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Development of high throughput sequencing analysis based system for personalized medicine of deafness

    • Principal Investigator
      Usami Shin-ichi
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Research on clinical feature and onset mechanism of deafness caused by mitochondrial DNA mutations

    • Principal Investigator
      Yano Takuya
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  High frequency and mid frequency hearing loss caused by KCNQ4 gene mutations

    • Principal Investigator
      NAITO Takehiko
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  The effect of microgravity on mRNA expression in the vestibular endorgans

    • Principal Investigator
      TAKUMI Yutaka
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      宇宙生命学
    • Research Institution
      Shinshu University
  •  Genetic analysis and clinical features of auditory neuropathy spectrum disorder patients

    • Principal Investigator
      IWASA Yoh-ishiro
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Replication study of candidate genes associated with Age-Related Hearing Impairment in the Japanese population

    • Principal Investigator
      SUZUKI Nobuyoshi
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Genetic background among cochlear implant patients

    • Principal Investigator
      Miyagawa Maiko
    • Project Period (FY)
      2014 – 2017
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss CohortPrincipal Investigator

    • Principal Investigator
      NISHIO Shin-ya
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea

    • Principal Investigator
      YOSHIMURA Hidekane
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Relationship of sudden sensorineural hearing loss and oxidative stress.

    • Principal Investigator
      KITOH Ryosuke
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  OTOF mutation screening in Japanese sensorineural hearing loss patients

    • Principal Investigator
      SUZUKI Hiroaki
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Development of the molecular diagnostic system for congenital CMV infection

    • Principal Investigator
      IWASAKI Satoshi
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Effect of microgravity on the gene expression in the mouse vestibular organ

    • Principal Investigator
      TAKUMI Yutaka
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Functional analysis of the micro RNA in mouse inner ear.Principal Investigator

    • Principal Investigator
      NISHIO Shinya
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Comprehensive genetic analysis of hearing loss using next generation sequencer.

    • Principal Investigator
      USAMI Shinichi
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  The effects of mitchondrial DNA SNPs for age related hearing impairment

    • Principal Investigator
      TSUKADA Keita
    • Project Period (FY)
      2010 – 2011
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Prevalence and clinical features of hearing loss patients with CDH23 mutations.

    • Principal Investigator
      WAGATSUMA Michio
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  細胞外マトリックスによる難聴に関する基礎的、臨床的研究

    • Principal Investigator
      TAKUMI Yutaka
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Expression analysis of micro-RNAs in inner ear.Principal Investigator

    • Principal Investigator
      NISHIO Shinya
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Gene association study for the low tone hearing loss related diseases.

    • Principal Investigator
      FUKUOKA Hisakuni
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  The relationship between the gene expression profile and the type of hearing impairment.

    • Principal Investigator
      SUZUKI Nobuyoshi
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Application of genes expression analysis for diagnosis of salivary gland tumor by FNA samples with qRT-PCR.

    • Principal Investigator
      KAINUMA Kazuyuki
    • Project Period (FY)
      2007 – 2010
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University

All 2023 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 Other

All Journal Article Presentation Book Other

  • [Book] 本邦における人工内耳装用児の現状.聴覚障害児の日本語言語発達のために―ALADJINのすすめ―.2012

    • Author(s)
      岩崎 聡、西尾信哉
    • Publisher
      テクノエイド協会
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Book] 標準抽象語理解力検査(SCTAW)の意義2012

    • Author(s)
      西尾信哉、麻生 伸、岩崎 聡、宇佐美真一
    • Publisher
      テクノエイド協会
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Usefulness and pitfalls of genetic testing using next-generation sequencing2021

    • Author(s)
      野口佳裕,西尾信哉,宇佐美真一
    • Journal Title

      Otology Japan

      Volume: 31 Issue: 2 Pages: 125-130

    • DOI

      10.11289/otoljpn.31.125

    • NAID

      130008120525

    • ISSN
      0917-2025, 1884-1457
    • Language
      Japanese
    • Data Source
      KAKENHI-PROJECT-19K09865
  • [Journal Article] Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome2020

    • Author(s)
      Li, Nishio, Naruse, Riddell, Sapski, Katsuno, Hikita, Mizapourshafiyi, Smith, Cooper, Lee, Asano, Boettger, Kruger, Wietelmann, Graumann, Day, Boyd, Offermanns, Kitajiri, Usami, Nakayama
    • Journal Title

      Nature Communications

      Volume: 11 Issue: 1 Pages: 1343-1343

    • DOI

      10.1038/s41467-020-15198-9

    • NAID

      120006888459

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Journal Article] Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?2020

    • Author(s)
      Shinagawa J, Moteki H, Nishio SY, Noguchi Y, Usami SI.
    • Journal Title

      Genes

      Volume: 11 Issue: 3 Pages: 250-250

    • DOI

      10.3390/genes11030250

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09865
  • [Journal Article] Cochlear Implantation From the Perspective of Genetic Background.2020

    • Author(s)
      Usami SI, Nishio SY, Moteki H, Miyagawa M, Yoshimura H.
    • Journal Title

      Anat Rec.

      Volume: 303 Issue: 3 Pages: 563-593

    • DOI

      10.1002/ar.24360

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09885, KAKENHI-PROJECT-19K18727, KAKENHI-PROJECT-17K11322
  • [Journal Article] Frequency and clinical features of hearing loss caused by STRC deletions.2019

    • Author(s)
      Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI.
    • Journal Title

      Sci Rep.

      Volume: 13 Issue: 1 Pages: 4408-4408

    • DOI

      10.1038/s41598-019-40586-7

    • NAID

      120006601523

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-18K09343
  • [Journal Article] Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant2019

    • Author(s)
      Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio and Shin-ichi Usami
    • Journal Title

      Int. J. Mol. Sci.

      Volume: 20 Issue: 18 Pages: 4579-4579

    • DOI

      10.3390/ijms20184579

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Journal Article] Comprehensive analysis of syndromic hearing loss patients in Japan2019

    • Author(s)
      Ideura Michie、Nishio Shin-ya、Sugahara Kazuma、他
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 11976-11976

    • DOI

      10.1038/s41598-019-47141-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K09321, KAKENHI-PROJECT-18K09343, KAKENHI-PROJECT-18K09392, KAKENHI-PROJECT-19K09885, KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-17K11324, KAKENHI-PROJECT-18H04065, KAKENHI-PROJECT-17K19733
  • [Journal Article] OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.2019

    • Author(s)
      Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI.
    • Journal Title

      PLoS One.

      Volume: 14 Issue: 5 Pages: 0215932-0215932

    • DOI

      10.1371/journal.pone.0215932

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-17K16900, KAKENHI-PROJECT-15K20209, KAKENHI-PROJECT-18K16890, KAKENHI-PROJECT-18K16905
  • [Journal Article] Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss2019

    • Author(s)
      Sugiyama、Moteki、Kitajiri、Kitano、Nishio、Yamaguchi、Wakui、Abe、Ozaki、Motegi、Matsui、Teraoka、Kobayashi、Kosho、Usami
    • Journal Title

      Genes

      Volume: 10 Issue: 9 Pages: 715-732

    • DOI

      10.3390/genes10090715

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K09343, KAKENHI-PROJECT-18K16829, KAKENHI-PROJECT-17H04345
  • [Journal Article] TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing2019

    • Author(s)
      Katsuno Tatsuya、Belyantseva Inna A.、Cartagena-Rivera Alexander X.、Ohta Keisuke、Crump Shawn M.、Omori Koichi、Ito Juichi、Frolenkov Gregory I.、Friedman Thomas B.、Kitajiri Shin-ichiro
    • Journal Title

      JCI Insight

      Volume: 4 Issue: 12 Pages: 1-21

    • DOI

      10.1172/jci.insight.128561

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K09377, KAKENHI-PROJECT-17H04345, KAKENHI-PROJECT-20K20307, KAKENHI-PROJECT-16H06280
  • [Journal Article] A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.2018

    • Author(s)
      Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
    • Journal Title

      Acta Otolaryngol.

      Volume: 1 Issue: 8 Pages: 708-712

    • DOI

      10.1080/00016489.2018.1441545

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-15K20199, KAKENHI-PROJECT-16K09986
  • [Journal Article] Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel.2018

    • Author(s)
      Nishio SY, Moteki H, Usami SI.
    • Journal Title

      Mol Genet Genomic Med.

      Volume: 1 Issue: 4 Pages: 678-686

    • DOI

      10.1002/mgg3.399

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-15K10747, KAKENHI-PROJECT-18K09343
  • [Journal Article] POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.2017

    • Author(s)
      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.
    • Journal Title

      PLoS One.

      Volume: 12 Issue: 5 Pages: e0177636-e0177636

    • DOI

      10.1371/journal.pone.0177636

    • NAID

      120006373770

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K11176, KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-17K11356
  • [Journal Article] Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.2017

    • Author(s)
      Nishio SY, Takumi Y, Usami SI.
    • Journal Title

      Hear Res.

      Volume: 348 Pages: 87-97

    • DOI

      10.1016/j.heares.2017.02.017

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-15H02565
  • [Journal Article] The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.2017

    • Author(s)
      Nishio SY, Usami SI.
    • Journal Title

      Hum Mutat.

      Volume: 38 Issue: 3 Pages: 252-259

    • DOI

      10.1002/humu.23160

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-17K11322
  • [Journal Article] Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.2017

    • Author(s)
      Moteki H, Nishio S, Miyagawa M, Tsukada K, Iwasaki S, Usami S.
    • Journal Title

      Acta Otolaryngol

      Volume: 137 Pages: 516-521

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Journal Article] Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.2016

    • Author(s)
      Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S.
    • Journal Title

      J Hum Genet

      Volume: 61 Issue: 5 Pages: 419-422

    • DOI

      10.1038/jhg.2015.168

    • NAID

      40020825234

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.2016

    • Author(s)
      Ueyama T, Ninoyu Y, Nishio S, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami S, Saito N, Kitajiri S.
    • Journal Title

      EMBO Molecular Medicine

      Volume: 8 Issue: 11 Pages: 1310-1324

    • DOI

      10.15252/emmm.201606609

    • NAID

      120005850206

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-16J09300, KAKENHI-PROJECT-26293369, KAKENHI-PROJECT-26460340, KAKENHI-PROJECT-15K10753
  • [Journal Article] 若年発症型両側性感音難聴2016

    • Author(s)
      西尾信哉、宇佐美真一
    • Journal Title

      耳喉頭頸

      Volume: 88 Pages: 224-232

    • NAID

      130008120546

    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.2016

    • Author(s)
      Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
    • Journal Title

      PLoS ONE

      Volume: 11 Issue: 9 Pages: e0162230-e0162230

    • DOI

      10.1371/journal.pone.0162230

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861365
  • [Journal Article] Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.2016

    • Author(s)
      Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio S, Wakui K, Yamaguchi T, Kolbe DL, Iwasa Y, Shearer AE, Fukushima Y, Smith RJ, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol

      Volume: 125 Issue: 11 Pages: 918-923

    • DOI

      10.1177/0003489416661345

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-15K10747
  • [Journal Article] 難聴の遺伝子診断とその臨床応用2016

    • Author(s)
      西尾信哉、宇佐美真一
    • Journal Title

      耳鼻臨床

      Volume: 109 Pages: 828-829

    • NAID

      130005170765

    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] SOD1 gene polymorphisms in sudden sensorineural hearing loss.2016

    • Author(s)
      Kitoh R, Nishio SY, Ogawa K, Okamoto M, Kitamura K, Gyo K, Sato H, Nakashima T, Fukushima K, Hara A, Yamasoba T, Usami S.
    • Journal Title

      Acta Otolaryngol.

      Volume: 136 Issue: 5 Pages: 465-469

    • DOI

      10.3109/00016489.2015.1116047

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-25861543
  • [Journal Article] An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.2016

    • Author(s)
      Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S.
    • Journal Title

      J Hum Genet.

      Volume: 61 Issue: 3 Pages: 253-261

    • DOI

      10.1038/jhg.2015.143

    • NAID

      40020766326

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861407
  • [Journal Article] A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.2016

    • Author(s)
      Miyagawa M, Nishio SY, Usami S.
    • Journal Title

      Otol Neurotol.

      Volume: 37 Issue: 2 Pages: e126-e134

    • DOI

      10.1097/mao.0000000000000936

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-15H02565
  • [Journal Article] Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.2016

    • Author(s)
      Iwasa Y, Nishio S, Usami S.
    • Journal Title

      PLoS One

      Volume: 11 Issue: 12 Pages: e0166781-e0166781

    • DOI

      10.1371/journal.pone.0166781

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.2015

    • Author(s)
      Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 77S-83S

    • DOI

      10.1177/0003489415574513

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.2015

    • Author(s)
      Nishio SY, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 49S-60S

    • DOI

      10.1177/0003489415575059

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-25462633
  • [Journal Article] Germinal mosaicism in a family with BO syndrome.2015

    • Author(s)
      Miyagawa M, Nishio SY, Hattori M, Takumi Y, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 118S-122S

    • DOI

      10.1177/0003489415575062

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.2015

    • Author(s)
      Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJ.
    • Journal Title

      Clin Genet.

      Volume: e-pub Issue: 4 Pages: 466-472

    • DOI

      10.1111/cge.12677

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K10747, KAKENHI-PROJECT-15H02565
  • [Journal Article] Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.2015

    • Author(s)
      Ichinose A, Moteki H, Hattori M, Nishio SY, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 142S-147S

    • DOI

      10.1177/0003489415575043

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.2015

    • Author(s)
      Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 111S-117S

    • DOI

      10.1177/0003489415575044

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.2015

    • Author(s)
      Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 84S-93S

    • DOI

      10.1177/0003489415575057

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Journal Article] Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.2015

    • Author(s)
      Miyagawa M, Nishio SY, Kumakawa K, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 148S-157S

    • DOI

      10.1177/0003489415575055

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Mutational Spectrum and Clinical Features of Patients With ACTG1 Mutations Identified by Massively Parallel DNA Sequencing.2015

    • Author(s)
      Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri SI, Usami SI.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Journal Article] Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.2015

    • Author(s)
      Mori K, Miyanohara I, Moteki H, Nishio SY, Kurono Y, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 129S-134S

    • DOI

      10.1177/0003489415575061

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.2015

    • Author(s)
      Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 158S-168S

    • DOI

      10.1177/0003489415575058

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.2015

    • Author(s)
      Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 184S-192S

    • DOI

      10.1177/0003489415575041

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861407
  • [Journal Article] The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.2015

    • Author(s)
      Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 193S-204S

    • DOI

      10.1177/0003489415575056

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-15H02565
  • [Journal Article] Detailed hearing and vestibular profiles in the patients with COCH mutations.2015

    • Author(s)
      Tsukada K, Ichinose A, Miyagawa M, Mori K, Hattori M, Nishio SY, Naito Y, Kitajiri S, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 100S-110S

    • DOI

      10.1177/0003489415573074

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness.2015

    • Author(s)
      Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami SI.
    • Journal Title

      Ann Otol Rhinol Laryngol

      Volume: 124

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25670715
  • [Journal Article] Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.2015

    • Author(s)
      Nishio SY, Hayashi Y, Watanabe M, Usami S.
    • Journal Title

      Genet Test Mol Biomarkers.

      Volume: 19 Issue: 4 Pages: 209-217

    • DOI

      10.1089/gtmb.2014.0252

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-25462633
  • [Journal Article] Mutations in LOXHD1 gene cause various types and severities of hearing loss.2015

    • Author(s)
      Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 135S-141S

    • DOI

      10.1177/0003489415574067

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Journal Article] The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation.2015

    • Author(s)
      Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami SI.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Journal Article] Deafness gene expression patterns in the mouse cochlea found by microarray analysis.2014

    • Author(s)
      Yoshimura H, Takumi Y, Nishio SY, Suzuki N, Iwasa Y, Usami S.
    • Journal Title

      PLoS One.

      Volume: 9 Issue: 3 Pages: e92547-e92547

    • DOI

      10.1371/journal.pone.0092547

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670715
  • [Journal Article] Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 12014

    • Author(s)
      Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.
    • Journal Title

      PLoS One

      Volume: 11 Issue: 3 Pages: e90688-e90688

    • DOI

      10.1371/journal.pone.0090688

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25670715
  • [Journal Article] OTOF mutation screening in Japanese severe to profound recessive hearing loss patients2013

    • Author(s)
      Iwasa Y, Nishio S, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S.
    • Journal Title

      BMC Med Genet

      Volume: 14 Issue: 1 Pages: 1-5

    • DOI

      10.1186/1471-2350-14-95

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25861544
  • [Journal Article] Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection2013

    • Author(s)
      ③Moteki H, Suzuki M, Naito Y, Fujiwara K, Oguchi K, Nishio S, Iwasaki S, Usami S
    • Journal Title

      Int J Pediatr Otorhinolaryngol

      Volume: 78(2) Pages: 285-289

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] 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2013

    • Author(s)
      岩崎聡、古舘佐起子、西尾信哉、矢野卓也、茂木英明、工穣、宇佐美真一
    • Journal Title

      Otol JPN

      Volume: 23(5) Pages: 848-853

    • NAID

      130005065211

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation2013

    • Author(s)
      aito T, Nishio SY, Iwasa Y, Yano T,Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
    • Journal Title

      PLoS One

      Volume: 8(5) Issue: 5 Pages: e63231-e63231

    • DOI

      10.1371/journal.pone.0063231

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-25462633
  • [Journal Article] Hearing handicap in adults with unilateral deafness and bilateral hearing loss2013

    • Author(s)
      Iwasaki S, Sano H, Nishio S, Takumi Y, Okamoto M, Usami S, Ogawa K
    • Journal Title

      Otol Neurotol

      Volume: 34(4) Pages: 644-649

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Patients with CDH23 mutation and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)2012

    • Author(s)
      Usami S., Miyagawa M., Nishio S., Moteki H., Takumi Y., Suzuki M., Kitano Y., Iwasaki S.
    • Journal Title

      Acta Otolaryngol

      Volume: 132 Issue: 4 Pages: 377-384

    • DOI

      10.3109/00016489.2011.649493

    • NAID

      120007110630

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21592153, KAKENHI-PROJECT-21791607, KAKENHI-PROJECT-22249057
  • [Journal Article] Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study2012

    • Author(s)
      iyagawa M, Nishio SY, Usami S.
    • Journal Title

      PLoS One

      Volume: 7(8) Issue: 8 Pages: e40366-e40366

    • DOI

      10.1371/journal.pone.0040366

    • NAID

      120007108255

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] 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―.2012

    • Author(s)
      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
    • Journal Title

      Audiology Japan

      Volume: 55 Pages: 56-60

    • NAID

      10030745026

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion2012

    • Author(s)
      Moteki H, Nishio SY, Hashimoto S, Takumi Y, Iwasaki S, Takeichi N, Fukuda S, Usami S.
    • Journal Title

      J Hum Genet

      Volume: 57(9) Issue: 9 Pages: 587-92

    • DOI

      10.1038/jhg.2012.73

    • NAID

      10031056980

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] Patientswith CDH23 mutation and the 1555A> Gmitochondrial mutation are good candidates for electric acoustic stimulation(EAS)2012

    • Author(s)
      Usami S. Miyagawa M. Nishio S. Moteki H. Takumi Y. Suzuki M. Kitano Y. Iwasaki S
    • Journal Title

      Acta Otolaryngol

      Volume: 132巻 Pages: 377-384

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21791607
  • [Journal Article] Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.2012

    • Author(s)
      Usami S, Nishio SY, Nagano M, Abe S, Yamaguchi T
    • Journal Title

      PLoS One

      Volume: 7(2) Issue: 2 Pages: 1-8

    • DOI

      10.1371/journal.pone.0031276

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] anguage development in Japanese children who receive cochlear implant and/or hearing aid.2012

    • Author(s)
      Iwasaki S, Nishio S, Moteki H, Takumi Y, Fukushima K, Kasai N, Usami S
    • Journal Title

      Int J Pediatr Otorhinolaryngol

      Volume: 76 Pages: 433-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] 乳突皮質形成による残存聴力活用型人工内耳の術後聴力への影響.2012

    • Author(s)
      塚田景太、岩崎 聡、茂木英明、工 穣、宮川麻衣子、西尾信哉、宇佐美真一
    • Journal Title

      耳喉頭頸

      Volume: 84 Pages: 91-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] 目でみる耳鼻咽喉科乳突皮質形成による残存聴力活用型人工内耳の術後聴力への影響2012

    • Author(s)
      塚田景大, 岩崎聡, 茂木英明, 工穣, 宮川麻衣子, 西尾信哉, 宇佐美真一
    • Journal Title

      耳鼻咽喉科・頭頸部外科

      Volume: 84巻2号 Pages: 91-95

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22890077
  • [Journal Article] Language development in Japanese children who receive cochlear implant and/or hearing aid.2012

    • Author(s)
      Iwasaki S, Nishio S, Moteki H, Takumi Y, Fukushima K, Kasai N, Usami S
    • Journal Title

      Int J Pediatr Otorhinolaryngol

      Volume: 76 Issue: 3 Pages: 433-438

    • DOI

      10.1016/j.ijporl.2011.12.027

    • NAID

      120007107371

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] 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2012

    • Author(s)
      西尾信哉、岩崎 聡、宇佐美真一、笠井紀夫、福島邦博
    • Journal Title

      Audiology Japan

      Volume: 55 Pages: 146-151

    • NAID

      10030745157

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for Electric Acoustic Stimulation (EAS).2012

    • Author(s)
      Usami S, Miyagawa M, Nishio S, Moteki H, Takumi Y, Suzuki M, Kitano Y, Iwasaki S.
    • Journal Title

      Acta Otolaryngol

      Volume: 132 Pages: 377-84

    • NAID

      120007110630

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Usher症候群の全国アンケート調査結果の検討.2012

    • Author(s)
      吉村豪兼、岩崎 聡、西尾信哉、岩佐陽一郎、工 穣、宇佐美真一
    • Journal Title

      Otology Japan

      Volume: 22 Pages: 40-6

    • NAID

      10030285479

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis2012

    • Author(s)
      Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N
    • Journal Title

      Clin Genet.

      Volume: 82(6) Issue: 6 Pages: 514-20

    • DOI

      10.1111/j.1399-0004.2011.01831.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] 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―2012

    • Author(s)
      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
    • Journal Title

      Audiology Japan

      Volume: 55 Pages: 56-60

    • NAID

      10030745026

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations2011

    • Author(s)
      Moteki H, Naito Y, Fujiwara K, Kitoh R, Nishio S Y, Oguchi K, Takumi Y, Usami SI
    • Journal Title

      Acta Oto-Laryngol

      Volume: 131 Issue: 11 Pages: 1232-1236

    • DOI

      10.3109/00016489.2011.593719

    • NAID

      120007110633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21592153, KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-22591894, KAKENHI-PROJECT-22791587
  • [Journal Article] 残存聴力活用型人工内耳(EAS:electrical acoustic stimulation):術後聴取能における検討.2011

    • Author(s)
      茂木英明、西尾信哉、工 穣、岩崎 聡、宇佐美真一
    • Journal Title

      Otol Jpn

      Volume: 21 Pages: 771-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection : CMV DNA diagnosis using preserved umbilical cord2011

    • Author(s)
      Furutate S, Iwasaki s, Nishio S, Moteki H, Usami S
    • Journal Title

      Acta Oto-Laryngol

      Volume: 131 Issue: 9 Pages: 976-782

    • DOI

      10.3109/00016489.2011.583268

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-23592477
  • [Journal Article] 残存聴力活用型人工内耳(electric acoustic stimulation) ~手術法と聴力保存成績について~2011

    • Author(s)
      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
    • Journal Title

      Otol Jpn

      Volume: 21(5) Pages: 763-770

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] 残存聴力活用型人工内耳(EAS:electrical acoustic stimulation)~手術法と聴力保存成績について~.2011

    • Author(s)
      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
    • Journal Title

      Otol Jpn

      Volume: 21 Pages: 763-70

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] 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.2011

    • Author(s)
      茂木英明、西尾信哉、宮川麻衣子、工 穣、岩崎 聡、宇佐美真一
    • Journal Title

      Audiology Japan

      Volume: 54 Pages: 678-85

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Achievement of hearing preservation in the presence of an electrode covering the residual hearing region.2011

    • Author(s)
      Usami S, Moteki H, Suzuki N, Fukuoka H, Miyagawa M, Nishio S, Takumi Y, Iwasaki S, Jolly C
    • Journal Title

      Acta Otolaryngol

      Volume: 131 Pages: 405-12

    • NAID

      120007110634

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Journal Article] Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients.2010

    • Author(s)
      Tsukada K, Nishio S, Usami S
    • Journal Title

      Clin Genet

      Volume: 78(5) Issue: 5 Pages: 464-70

    • DOI

      10.1111/j.1399-0004.2010.01407.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-22890077
  • [Presentation] Could the Genetic Origin of Sensorineural Hearing Loss Affect the Outcome of Cochlear Implantation?2023

    • Author(s)
      Usami SI, Nishio SY
    • Organizer
      3rd INTERNATIONAL SYMPOSIUM ON INNER EAR THERAPEUTICS
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K19560
  • [Presentation] Clinical Features of Deafness Caused by a Novel CLDN14 Variant2020

    • Author(s)
      Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami
    • Organizer
      ARO The 43rd Annual MidWinter Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] Identification of Hearing-loss Associated Mutations in MYO6 and In Vitro Functional Analysis2020

    • Author(s)
      Timothy F. Day, Shin-ichiro Kitajiri, Shin-ichiro Oka, Hideaki Moteki, Shin-ya Nishio, Shin-ichi Usami
    • Organizer
      ARO The 43rd Annual MidWinter Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] 日本人で初めて見出された CLDN14 変異による難聴症例2019

    • Author(s)
      北野友裕、北尻真一郎、西尾信哉、宇佐美真一
    • Organizer
      第29回 日本耳科学会 総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] バイオインフォマティクスによる遺伝子変異の評価検討2019

    • Author(s)
      西尾信哉
    • Organizer
      第29回 日本耳科学会総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] Molecular investigations of deafness-related genes ACTG1 and MYO6 in vitro2019

    • Author(s)
      Day Timothy,岡 晋一郎,宮嶋宏樹, 北尻真一郎,西尾信哉,宇佐美真一
    • Organizer
      第64回日本聴覚医学会総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] ヒト遺伝性難聴より見出したMYO6遺伝子変異の細胞学的解析2019

    • Author(s)
      北尻真一郎、Timothy Day、岡晋一郎、西尾信哉、宇佐美真一
    • Organizer
      第29回 日本耳科学会 総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] TNCバリアントによる常染色体優性非症候群性遺伝性難聴2019

    • Author(s)
      野口佳裕、西尾信哉、茂木英明、藤川太朗、宇佐美真一
    • Organizer
      第29回 日本耳科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-19K09865
  • [Presentation] 2つの全エクソーム解析技術によりHOXA2バリアントが同定された常染色体優性混合性難聴家系2019

    • Author(s)
      野口佳裕、西尾信哉、宇佐美真一
    • Organizer
      第81回 耳鼻咽喉科臨床学会
    • Data Source
      KAKENHI-PROJECT-19K09865
  • [Presentation] ACTG1変異による難聴症例の臨床像と変異型γアクチンの細胞内局在2019

    • Author(s)
      宮嶋 宏樹(Hiroki Miyajima)、茂木 英明(Hideaki Moteki)、Timothy Day、西尾 信哉(Shin-ya Nishio)、北尻 真一郎(Shin-ichiro Kitajiri)、宇佐美 真一(Shin-ichi Usami)
    • Organizer
      日本人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] CNVs スクリーニングにより見出された OTOA 遺伝子変異による難聴 5 症例2019

    • Author(s)
      杉山 健二郎(Kenjiro Sugiyama)、北野 友裕(Tomohiro Kitano)、西尾 信哉(Shin-ya Nishio)、北尻 真一郎(Shin-ichiro Kitajiri)、茂木 英明(Hideaki Moteki)、宇佐美 真一(Shin-ichi Usami)
    • Organizer
      日本人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] ACTG1遺伝子変異による難聴症例の検討2018

    • Author(s)
      宮嶋宏樹、茂木英明、北尻真一郎、西尾信哉、村田孝啓、池園哲郎、武田英彦、阿部聡子、岩崎聡、高橋優宏、内藤泰、山崎博司、神田幸彦、宇佐美真一
    • Organizer
      第63回日本聴覚医学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea.2018

    • Author(s)
      Nishio S, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea.2018

    • Author(s)
      Nishio S, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] LOXHD1遺伝子変異とその表現型2018

    • Author(s)
      前川カルナ、西尾信哉、宇佐美真一
    • Organizer
      第63回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] OTOF遺伝子p.R1172Q変異による難聴発症機序の解析2018

    • Author(s)
      岩佐陽一郎、北尻真一郎、西尾信哉、吉村豪兼、宇佐美真一
    • Organizer
      第63回日本聴覚医学会総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] 次世代シークエンスによりTMC1遺伝子変異が同定された先天性難聴例2018

    • Author(s)
      大上麻由里、塚原桃子、大貫優子、高橋千果、和泉俊一郎、西尾信哉、宇佐美真一
    • Organizer
      第63回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] TECTA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2018

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第28回日本耳科学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] EYA4遺伝子変異症例の聴力像の検討2018

    • Author(s)
      品川潤、西尾信哉、茂木英明、野口佳裕、宇佐美真一
    • Organizer
      第28回日本耳科学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] MYO6遺伝子変異による難聴症例の検討2018

    • Author(s)
      岡晋一郎、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第63回日本聴覚医学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] STRC遺伝子のCNVによる欠失とフレームシフト変異の複合ヘテロ接合体による難聴を呈した双子症例2018

    • Author(s)
      荒井康裕、森下大輝、佐久間直子、高橋優宏、西尾信哉、宇佐美真一
    • Organizer
      第63回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] ACTG1遺伝子変異による難聴症例の検討2018

    • Author(s)
      宮嶋宏樹、茂木英明、北尻真一郎、西尾信哉、村田考啓、池園哲郎、武田英彦、阿部聡子、岩崎聡、高橋優宏、内藤泰、山崎博司、神田幸彦、宇佐美真一
    • Organizer
      第63回日本聴覚医学会総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] 難聴の遺伝学的検査と疾患得意的データストレージ構築2018

    • Author(s)
      宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
    • Organizer
      第63回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 保険収載された難聴の遺伝学的検査の現状2017

    • Author(s)
      宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] USH2A遺伝子変異が同定された両中等度難聴3兄妹例2017

    • Author(s)
      大上麻由里、追川陽子、塚原桃子、清水福子、鈴木典子、大川智恵、大上研二、飯田正弘、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 先天性サイトメガロウイルス感染による難聴ー長野県新生児9.000名に対するスクリーニングプロジェクト2017

    • Author(s)
      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
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-15K20199
  • [Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017

    • Author(s)
      西尾信哉
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017

    • Author(s)
      杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] STRC遺伝子Copy Number Variation(CNV)による感音難聴の2症例2017

    • Author(s)
      横田陽、茂木英明、西尾信哉、宮崎浩充、日高浩史、大山健二、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Novel Mutations in EYA4 Lead to Progressive hearing Loss2017

    • Author(s)
      Shinagawa J, Moteki H, Nishio S, Usami S
    • Organizer
      AAO-HNSF2017 (ENT Annual Meeting)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 遺伝性難聴DFNA1の原因遺伝子DIAPH1と、その変異による難聴発症メカニズムの解明2017

    • Author(s)
      北尻真一郎、二之湯弦、西尾信哉、三好拓志、鳥居紘子、西村幸司、菅原一真、坂田英明、Dean Thumkeo、坂口博史、渡邊直樹、宇佐美真一、齋藤尚亮、上山健彦
    • Organizer
      日本人類遺伝学会第62回大会. 2017年11月15日(水)~18日(土)、神戸
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [Presentation] STRC遺伝子Copy Number Variation(CNV)による感音難聴の2症例2017

    • Author(s)
      横田陽、茂木英明、西尾信哉、宮崎浩充、日高浩史、大山健二、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] HOXA2重複変異は常染色体優性非症候群性混合性難聴と中耳奇形を引き起こす2017

    • Author(s)
      野口佳裕、西尾信哉、和佐野浩一郎、藤川太郎、木村彰方
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] COL11A2遺伝子変異によるStickler症候群3型の2症例2017

    • Author(s)
      岡晋一郎、岩佐陽一郎、西尾信哉、茂木英明、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] NGS-Based Genetic Testing for Deafness2017

    • Author(s)
      Nishio S, Usami S
    • Organizer
      AAO-HNSF2017 (ENT Annual Meeting)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2017

    • Author(s)
      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
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 当科におけるGJB2遺伝子変異による難聴症例の検討2017

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 当科におけるGJB2遺伝子変異による難聴症例の検討2017

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 日本人難聴患者6004例におけるTECTA遺伝子変異ー難聴遺伝子データベースの解析から2017

    • Author(s)
      安川梨香、平松憲、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] EYA4遺伝子変異による遺伝生感音難聴の1家系2017

    • Author(s)
      阿部聡子、三澤建、武田英彦、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 外耳、中耳奇形例に対するHOXA2遺伝子解析2017

    • Author(s)
      野口佳裕、西尾信哉、和佐野浩一郎、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] EYA4遺伝子変異による遺伝生感音難聴の1家系2017

    • Author(s)
      阿部聡子、三澤建、武田英彦、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] Waardenburg症候群日本人患者の遺伝子変異と臨床症状について2017

    • Author(s)
      出浦美智恵、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] WFS1遺伝子変異が同定された優性遺伝形式遺伝性難聴のⅠ家系2017

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Novel Mutations in EYA4 Lead to Progressive hearing Loss.2017

    • Author(s)
      Shinagawa J, Moteki H, Nishio S, Usami S
    • Organizer
      AAO-HNSF 2017 (ENT Annual Meeting)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 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2017

    • Author(s)
      品川潤、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会 学術講演会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017

    • Author(s)
      杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2017

    • Author(s)
      品川潤、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] COL11A2遺伝子変異によるStickler症候群3型の2症例2017

    • Author(s)
      岡晋一郎、岩佐陽一郎、西尾信哉、茂木英明、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 外耳、中耳奇形例に対するHOXA2遺伝子解析2017

    • Author(s)
      野口佳裕、西尾信哉、和佐野浩一郎、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 保険収載された難聴の遺伝学的検査の現状2017

    • Author(s)
      宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 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2017

    • Author(s)
      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
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 日本人難聴患者6004例におけるTECTA遺伝子変異ー難聴遺伝子データベースの解析から2017

    • Author(s)
      安川梨香、平松憲、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 遺伝性難聴DFNA1の原因遺伝子DIAPH1と、その変異による難聴発症メカニズムの解明2017

    • Author(s)
      北尻真一郎、二之湯弦、西尾信哉、三好拓志、鳥居紘子、西村幸司、菅原一真、坂田英明、たむけおでぃーん、坂口博史、渡邊直樹、宇佐美真一、齋藤尚亮、上山健彦
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] GJB2遺伝子変異による常染色体優性遺伝形式を呈する掌 角化症を伴う先天性感音難聴の一家系2017

    • Author(s)
      荒井康裕、宇佐美真一、高橋優宏、佐久間直子、西尾信哉
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] EYA4遺伝子変異特異的疾患ips細胞の樹立2017

    • Author(s)
      松崎佐栄子、藤岡正人、細谷誠、佐伯翼、阿部聡子、西尾信哉、松永達雄、宇佐美真一、小川郁
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] NGS-Based Genetic Testing for Deafness.2017

    • Author(s)
      Nishio S, Usami S
    • Organizer
      AAO-HNSF 2017 (ENT Annual Meeting)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] IMPROVEMENT IN JAPANESE MONOSYLLABLE PERCEPTION IN EAS PATIENTS.2017

    • Author(s)
      Tsushima Y, Moteki H, Miyagawa M, Nishio S, Usami S
    • Organizer
      APCSLH 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] STRC遺伝子におけるコピー数変化による難聴2017

    • Author(s)
      茂木英明、横田陽、岡晋一郎、西尾信哉、、山口智美、涌井敬子、宇佐美真一
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Acoustic Stimulation in Cases with Less Residual Hearing2017

    • Author(s)
      Moteki H, Nishio S, Miyagawa M, Tsukada K, Noguchi Y, Usami S
    • Organizer
      AAO-HNSF2017 (ENT Annual Meeting)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] IMPROVEMENT IN MUSIC PERCEPTION AFTER COCHLEAR IMPLANTATION AND EAS.2017

    • Author(s)
      Suzuki K, Miyagawa M, Moteki H, Nishio S, Usami S
    • Organizer
      APCSLH 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] HOXA2重複変異は常染色体優性非症候群性混合性難聴と中耳奇形を引き起こす2017

    • Author(s)
      野口佳裕、西尾信哉、和佐野浩一郎、藤川太郎、木村彰方
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2017

    • Author(s)
      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
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] STRC遺伝子におけるコピー数変化による難聴2017

    • Author(s)
      茂木英明、横田陽、岡晋一郎、西尾信哉、、山口智美、涌井敬子、宇佐美真一
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] GJB2遺伝子変異による常染色体優性遺伝形式を呈する掌 角化症を伴う先天性感音難聴の一家系2017

    • Author(s)
      荒井康裕、宇佐美真一、高橋優宏、佐久間直子、西尾信哉
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] FEASIBILITY OF HEARING PRESERVATION WITH CONVENTIONAL COCHLEAR IMPLANT AND ACOUSTIC STIMULATION FOR RESIDUAL HEARING.2017

    • Author(s)
      Moteki H, Nishio S, Miyagawa M, Tsukada K, Noguchi Y, Usami S
    • Organizer
      APSCI 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 次世代シーケンサーを用いたAuditory neuropathy spectrum disorderに対する遺伝子解析2017

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 先天性サイトメガロウイルス感染による難聴ー長野県新生児9.000名に対するスクリーニングプロジェクト2017

    • Author(s)
      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
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017

    • Author(s)
      杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会 学術講演会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 次世代シーケンサーを用いたAuditory neuropathy spectrum disorderに対する遺伝子解析2017

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] WFS1遺伝子変異が同定された優性遺伝形式遺伝性難聴のⅠ家系2017

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Data Source
      KAKENHI-PROJECT-17K11322
  • [Presentation] 保険収載された難聴の遺伝学的検査の現状2017

    • Author(s)
      宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
    • Organizer
      第62回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例の臨床像2016

    • Author(s)
      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
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例の臨床像2016

    • Author(s)
      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
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2016

    • Author(s)
      出浦美智恵、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 人工内耳装用患者の遺伝学的背景とその装用成績2016

    • Author(s)
      宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan.2016

    • Author(s)
      Nishio S, Usami S.
    • Organizer
      第13回国際人類遺伝学会
    • Place of Presentation
      京都国際会議場
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 難聴に対する遺伝学的診断の検討2016

    • Author(s)
      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
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2016

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 難聴の遺伝子診断の臨床応用2016

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第78回耳鼻咽喉科臨床学会
    • Place of Presentation
      城山観光ホテル(鹿児島市)
    • Year and Date
      2016-06-23
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan.2016

    • Author(s)
      Nishio S, Usami S.
    • Organizer
      第13回国際人類遺伝学会
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-03-05
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2016

    • Author(s)
      野口佳裕、 西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 先天性難聴の遺伝学的検査ー次世代シーケンサーの臨床応用ー2016

    • Author(s)
      茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 人工内耳埋め込み術を行ったCDH23複合へテロ接合体変異を有する同胞2例2016

    • Author(s)
      山口智也、岡野高之、山本典行、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
    • Organizer
      第61回日本聴覚医学会総会
    • Place of Presentation
      盛岡グランドホテル
    • Year and Date
      2016-10-19
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2016

    • Author(s)
      森健太郎、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 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2016

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      長野市ホテル国際21
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-26861364
  • [Presentation] Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.2016

    • Author(s)
      Nishio S, Takumi Y, Yoshimura H, Usami S.
    • Organizer
      ARO 39th MidWinter Metting
    • Place of Presentation
      San Diego, California, USA
    • Year and Date
      2016-02-22
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670715
  • [Presentation] 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2016

    • Author(s)
      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
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 優性遺伝形式をとる遺伝性難聴76家系に対する遺伝学的解析2015

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第25回日本耳科学会
    • Place of Presentation
      長崎ブリックホール(長崎県長崎市)
    • Year and Date
      2015-10-08
    • Data Source
      KAKENHI-PROJECT-25462633
  • [Presentation] 次世代シーケンサーを用いた日本人難聴患者1120例の網羅的遺伝子解析2015

    • Author(s)
      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
    • Organizer
      第25回日本耳科学会
    • Place of Presentation
      長崎ブリックホール(長崎県長崎市)
    • Year and Date
      2015-10-08
    • Data Source
      KAKENHI-PROJECT-25462633
  • [Presentation] Benefit of Genetic Testing for Cochlear Implantation Cadidates.2015

    • Author(s)
      Usami SI, Miyagawa M, Nishio SY, Moteki H
    • Organizer
      2015 Annual CORLAS Meeting
    • Place of Presentation
      Palace Hotel, San Francisco USA
    • Year and Date
      2015-08-25
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 成人人工内耳装用者の遺伝的背景~若年発症型両側性感音難聴患者との関連性について~2015

    • Author(s)
      宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第60回 日本聴覚医学会総会•学術講演会
    • Place of Presentation
      京王プラザホテル(東京)
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 次世代シーケンサーによる人工内耳装用患者の遺伝子解析2015

    • Author(s)
      宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第10回 日本小児耳鼻咽喉科学会総会・学術講演会
    • Place of Presentation
      軽井沢プリンスホテル
    • Year and Date
      2015-05-09
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 日本人難聴遺伝子変異データベースの構築と臨床応用2015

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      NGS Field 4th Meeting
    • Place of Presentation
      エポカルつくば(茨城県つくば市)
    • Year and Date
      2015-07-02
    • Data Source
      KAKENHI-PROJECT-25462633
  • [Presentation] 特発性両側性感音難聴患者に対する遺伝学的検査~次世代シーケンサーを用いた検査~2015

    • Author(s)
      西尾信哉、宮川麻衣子、池園哲郎、石川浩太郎、岩崎聡、岡本牧人、小川郁、加我君孝、熊川孝三、小橋元、坂田英明、佐藤宏昭、佐野肇、曾根三千彦、高橋晴雄、武田英彦、東野哲也、内藤泰、中川尚志、西崎和則、野口佳裕、羽藤直人、原 晃、福田諭、松永達雄、山岨達也、宇佐美真一
    • Organizer
      第60回 日本聴覚医学会総会・学術講演会
    • Place of Presentation
      京王プラザホテル(東京都新宿区)
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-25462633
  • [Presentation] Comprehensive genetic screening of hearing loss for efficient clinical molecular diagnosis.2013

    • Author(s)
      Nishio S, Naito T, Miyagawa M, Usami S.
    • Organizer
      Life Technologies Asia Pacific Japan 2013 Genetic Analysis Summit
    • Place of Presentation
      Bali
    • Invited
    • Data Source
      KAKENHI-PROJECT-25462633
  • [Presentation] 先天性CMV感染症と一側性難聴の検討2013

    • Author(s)
      岩佐陽一郎、西尾信哉、矢野卓也、岩崎聡、宇佐美真一
    • Organizer
      第23回日本耳科学会
    • Place of Presentation
      宮崎
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort; genotype-phenotype correlations and a founder mutation.2013

    • Author(s)
      Naito T, Nishio S, Usami S
    • Organizer
      9th Molecular Biology of Hearing and Deafness Conference
    • Place of Presentation
      Stanford University
    • Data Source
      KAKENHI-PROJECT-25462633
  • [Presentation] 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確立2013

    • Author(s)
      矢野卓也、岩崎聡、西尾信哉、工穣、茂木英明、宇佐美真一
    • Organizer
      第58回日本聴覚医学会・学術講演会
    • Place of Presentation
      松本
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] Cytomegalovirus DNA diagnosis using preserved umbilical cord in hearing impaired children2013

    • Author(s)
      Iwasaki S, Furutate S, Nishio S, Yano T, Moteki H, Usami S
    • Organizer
      9th Molecular Biology of Hearing and Deafness Conference
    • Place of Presentation
      Stanford University
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] 次世代シーケンサーによる難聴の遺伝子解析(1)~方法論および変異検出アルゴリズムについて~2012

    • Author(s)
      西尾信哉、宮川麻衣子、内藤武彦、宇佐美真一
    • Organizer
      第22回日本耳科学会総会
    • Place of Presentation
      名古屋国際会議場
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Mutation spectrum and clinical characteristics of hearing loss patients caused by SLC26A4 mutations: a large cohort study.2012

    • Author(s)
      iyagawa M,Nishio S,Fukuoka H, Tsukada K, Usami S
    • Organizer
      27th Barany Society Meeting
    • Place of Presentation
      Uppsala,Sweden
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] ミトコンドリア遺伝子全領域シーケンスによる難聴の遺伝子解析2012

    • Author(s)
      矢野卓也、西尾信哉、宇佐美真一
    • Organizer
      第22回日本耳科学会総会
    • Place of Presentation
      名古屋国際会議場
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 次世代シーケンサーによる難聴の遺伝子解析(1)~方法論および変異検出アルゴリズムについて~2012

    • Author(s)
      西尾信哉、宮川麻衣子、内藤武彦、宇佐美真一
    • Organizer
      第22回日本耳科学会総会
    • Place of Presentation
      名古屋国際会議場
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 内耳におけるmicroRNA の発現に関する研究2012

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第1回耳鼻咽喉科フロンティアカンファレンス
    • Place of Presentation
      旭川グランドホテル
    • Year and Date
      2012-09-15
    • Data Source
      KAKENHI-PROJECT-23791888
  • [Presentation] Usher症候群の全国調査およびタイプ分類に関して.2012

    • Author(s)
      岩崎 聡、吉村豪兼、西尾信哉、工 穣、宇佐美真一
    • Organizer
      平成23年度厚生労働省科学研究費補助金 難治性疾患克服事業 Usher症候群に関する調査研究
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] 次世代シーケンサーによる難聴の遺伝子解析(2)~見出された原因遺伝子および表現型について~2012

    • Author(s)
      宮川麻衣子、内藤武彦、西尾信哉、宇佐美真一
    • Organizer
      第22回日本耳科学会総会
    • Place of Presentation
      名古屋国際会議場
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Mutation spectrum and clinical characteristics of hearing loss patients caused by SLC26A4 mutations: a large cohort study2012

    • Author(s)
      Miyagawa M,Nishio S,Fukuoka H, Tsukada K, Usami S.
    • Organizer
      27th Barany Society Meeting
    • Place of Presentation
      Uppsala,Sweden
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 次世代シーケンサーによる難聴の遺伝子解析(2)~見出された原因遺伝子および表現型について~2012

    • Author(s)
      宮川麻衣子、内藤武彦、西尾信哉、宇佐美真一
    • Organizer
      第22回日本耳科学会総会
    • Place of Presentation
      名古屋国際会議場
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 微小重力環境における内耳末梢前庭器の遺伝子発現解析2012

    • Author(s)
      工穣、小口智啓、鈴木伸嘉、西尾信哉、宇佐美真一
    • Organizer
      第1回耳鼻咽喉科フロンティアカンファレンス
    • Place of Presentation
      旭川
    • Year and Date
      2012-09-15
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] The effect of microgravity on gene expression in the vestibular end-organs. Otoconin 90 was up-regulated by microgravity.2012

    • Author(s)
      Oguchi T, Nishio S, Suzuki N, Takumi Y, Usami S
    • Organizer
      27th Barany Society Meeting
    • Place of Presentation
      Uppsala,Sweden
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] 突発性難聴、片側高度難聴者に対するハンディキャップアンケート調査.2012

    • Author(s)
      岩崎 聡、佐野 肇、西尾信哉、工 穣、岡本牧人、宇佐美真一
    • Organizer
      平成23年度厚生労働省科学研究費補助金 難知性疾患克服事業 急性高度難聴に関する調査研究
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] 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.2011

    • Author(s)
      川端右子、西尾信哉、岩崎 聡、茂木英明、工 穣、宇佐美真一
    • Organizer
      第56回日本聴覚医学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] The effect of Microgravity on mRNA Expression in the Vestibular Endorgans:Comparison of the 90days and 15days space flight.2011

    • Author(s)
      Takumi Y. Oguchi T. Suzuki N. Nishio S. Boyle R. Usami S.
    • Organizer
      8th Symposium on the Role of the Vestibular Organs in Space Explorartion
    • Place of Presentation
      ヒューストン
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] he effect of Microgravity on mRNA Expression in the Vestibular Endorgans : Comparison of the 90days and 15days space flight2011

    • Author(s)
      Takumi Y, Oguchi T, Suzuki N, Nishio S, Boyle R. Usami S. T
    • Organizer
      8th Symposium on the Role of the Vestibular Organs in Space Explorartion
    • Place of Presentation
      ヒューストン
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] 難治性内耳疾患の遺伝子バンクプロジェクトの現況(メニエール病患者におけるSNPs関連解析)2011

    • Author(s)
      福岡久邦、西尾信哉、鬼頭良輔、小口智啓、宇佐美真一、渡辺行雄
    • Organizer
      前庭機能異常に関する調査研究班会議
    • Year and Date
      2011-01-22
    • Data Source
      KAKENHI-PROJECT-20791188
  • [Presentation] 難治性内耳疾患の遺伝子バンクプロジェクトの現況(メニエール病患者におけるSNPs関連解析)2011

    • Author(s)
      福岡久邦、西尾信哉、鬼頭良輔、小口智啓、宇佐美真一、渡辺行雄
    • Organizer
      平成22年度前庭機能異常に関する調査研究班研究成果報告会
    • Place of Presentation
      東京
    • Year and Date
      2011-01-22
    • Data Source
      KAKENHI-PROJECT-20791188
  • [Presentation] 先進医療「先天性難聴の遺伝子診断」の現状2011

    • Author(s)
      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
    • Organizer
      第56回日本聴覚医学会総会・学術講演会
    • Place of Presentation
      福岡
    • Year and Date
      2011-10-27
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 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―2011

    • Author(s)
      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
    • Organizer
      第56回日本聴覚医学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] 日本人難聴患者に見出されたSLC26A4遺伝子変異のスペクトラム2011

    • Author(s)
      宮川麻衣子、西尾信哉、鈴木宏明、宇佐美真一
    • Organizer
      第21回日本耳科学会総会
    • Place of Presentation
      沖縄
    • Year and Date
      2011-11-25
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 難聴児の言語発達に影響を及ぼす要因に関する研究.―感覚器障害戦略研究・症例対象研究結果から―2011

    • Author(s)
      西尾信哉、岩崎 聡、宇佐美真一、福島邦博、笠井紀夫
    • Organizer
      第56回日本聴覚医学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] 残存聴力活用型人工内耳(EAS:lectric acoustic stimulation)の長期装用者3症例における術後成績.2011

    • Author(s)
      茂木英明、宮川麻衣子、西尾信哉、工 穣、岩崎 聡、宇佐美真一
    • Organizer
      第56回日本聴覚医学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] 微重力環境が末梢前庭の遺伝子発現に及ぼす影響2011

    • Author(s)
      小口智啓、矢野卓也、西尾信哉、鈴木伸嘉、工 穣、宇佐美 真一
    • Organizer
      第112回日本耳鼻咽喉科学会総会・講演会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] 先進医療「先天性難聴の遺伝子診断」の現状2011

    • Author(s)
      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
    • Organizer
      第56回日本聴覚医学会総会・学術講演会
    • Place of Presentation
      福岡
    • Year and Date
      2011-10-27
    • Data Source
      KAKENHI-PROJECT-21791607
  • [Presentation] 残存聴力活用型人工内耳に対する骨パテを用いた乳突皮質形成による工夫2011

    • Author(s)
      塚田景大、茂木英明、工穣、宮川麻衣子、西尾信哉、岩崎聡、宇佐美真一
    • Organizer
      第73回耳鼻咽喉科臨床学会
    • Place of Presentation
      長野
    • Year and Date
      2011-06-23
    • Data Source
      KAKENHI-PROJECT-22890077
  • [Presentation] Usher症候群の全国アンケート調査結果とタイプ分類における課題.2011

    • Author(s)
      吉村豪兼、岩崎 聡、西尾信哉、工 穣、宇佐美真一
    • Organizer
      第21回日本耳科学会総会
    • Place of Presentation
      沖縄
    • Data Source
      KAKENHI-PROJECT-23592477
  • [Presentation] WFS1変異による難聴患者の遺伝子解析と臨床像2010

    • Author(s)
      福岡久邦、橋本繁成、西尾信哉、工穣、宇佐美真一
    • Organizer
      優性遺伝形式をとる遺伝性難聴に関する調査研究班会議
    • Place of Presentation
      東京
    • Year and Date
      2010-02-28
    • Data Source
      KAKENHI-PROJECT-20791188
  • [Presentation] 老化促進モデルマウス(SAMP1)の内耳におけるマイクロRNAの発現2009

    • Author(s)
      西尾信哉、橋本繁成、鈴木伸嘉、工穣、宇佐美真一
    • Organizer
      第19回日本耳科学会総会・学術講演会
    • Year and Date
      2009-10-09
    • Data Source
      KAKENHI-PROJECT-20791187
  • [Presentation] 老化促進モデルマウス(SAMP1)の内耳におけるマイクロRNAの発現2009

    • Author(s)
      西尾信哉
    • Organizer
      第19回日本耳科学会総会・学術講演会
    • Place of Presentation
      京王プラザホテル(新宿)
    • Year and Date
      2009-10-09
    • Data Source
      KAKENHI-PROJECT-20791187
  • [Presentation] 老化促進モデルマウス(SAMP1)の内耳におけるマイクロRNAの発現2009

    • Author(s)
      西尾信哉、橋本繁成、鈴木伸嘉、工穣、宇佐美真一
    • Organizer
      第24回老化促進モデルマウス(SAM)研究協議会
    • Year and Date
      2009-07-09
    • Data Source
      KAKENHI-PROJECT-20791187
  • [Presentation] 老化促進モデルマウス(SAMP1)の内耳におけるマイクロRNAの発現2009

    • Author(s)
      西尾信哉
    • Organizer
      第24回老化促進モデルマウス(SAM)研究協議会
    • Place of Presentation
      みやま荘(松本市)
    • Year and Date
      2009-07-09
    • Data Source
      KAKENHI-PROJECT-20791187
  • [Presentation] 次世代シーケンサーを用いて見出されたTMPRSS3遺伝子変異症例ー臨床像と残存聴力活用型人工内耳術後成績の検討ー

    • Author(s)
      宮川麻衣子、西尾信哉、塚田景大、茂木英明、宇佐美真一
    • Organizer
      第59回日本聴覚医学会
    • Place of Presentation
      海峡メッセ下関・下関・山口県
    • Year and Date
      2014-11-27 – 2014-11-28
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 保険収載後の難聴遺伝子診断の現況

    • Author(s)
      宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第9回日本小児耳鼻咽喉科学会
    • Place of Presentation
      アクトシティ浜松・浜松市・静岡県
    • Year and Date
      2014-06-06 – 2014-06-07
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] The Effect of Microgravity on mRNA Expression in the Vestibular Endorgans: Comparison of the 90-day and 15-day Space Flight.

    • Author(s)
      Takumi Y, Oguchi T, Suzuki N, Nishio S, Boyle R, Usami S.
    • Organizer
      Inner Ear Biology Workshop
    • Place of Presentation
      京都国際会議場・京都
    • Year and Date
      2014-11-01 – 2014-11-04
    • Data Source
      KAKENHI-PROJECT-26506007
  • [Presentation] Massively Parallel DNA Sequencing Successfully Identifies New Causative TMPRSS3 Mutations in patients with EAS.

    • Author(s)
      Miyagawa M, Nishio S, Tsukada K, Moteki H, Usami S.
    • Organizer
      Inner Ear Biology Workshop
    • Place of Presentation
      京都国際会議場・京都・京都府
    • Year and Date
      2014-11-01 – 2014-11-04
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 次世代シーケンサーを用いた残存聴力活用型人工内耳装用患者の遺伝子解析

    • Author(s)
      宮川麻衣子、西尾信哉、塚田景大、茂木英明、宇佐美真一
    • Organizer
      第24回日本耳科学会
    • Place of Presentation
      朱鷺メッセ・新潟・新潟県
    • Year and Date
      2014-10-05 – 2014-10-08
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] Microarray Analysis of Tonotopic Gene Expression Patterns in the Mouse Cochlea

    • Author(s)
      Yosimura H, Nishio S, Takumi Y, Iwasa Y, Usami S.
    • Organizer
      Inner Ear Biology Workshop
    • Place of Presentation
      京都国際会議場
    • Year and Date
      2014-11-01 – 2014-11-04
    • Data Source
      KAKENHI-PROJECT-25670715
  • []

  • 1.  USAMI Shinichi (10184996)
    # of Collaborated Projects: 25 results
    # of Collaborated Products: 170 results
  • 2.  SUZUKI Nobuyoshi (20377641)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 7 results
  • 3.  TAKUMI Yutaka (70312501)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 11 results
  • 4.  KITO Ryousuke (80419358)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 3 results
  • 5.  HASHIMOTO Shigenari (90359729)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 2 results
  • 6.  MIYAGAWA Maiko (60467165)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 34 results
  • 7.  MOTEKI Hideaki (60422698)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 46 results
  • 8.  NAITO Takehiko (50467164)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 10 results
  • 9.  YANO Takuya (10511058)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 5 results
  • 10.  IWASA Yohichirou (10613002)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 11.  Kitajiri Shin-ichiro (00532970)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 13 results
  • 12.  KAINUMA Kazuyuki (30334907)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 13.  FUKUOKA Hisakuni (90419391)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 14.  WAGATSUMA Michio (00419409)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 15.  KUMAKAWA Kozo (40142252)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 16.  SATO Hiroaki (40215827)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  TONO Tetsuya (80145424)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 18.  FURUYA Nobuhiko (80107606)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  NAGAI Kyoko (50302469)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  TSUKADA Keita (90419375)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 21.  IWASAKI Satoshi (00232653)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 27 results
  • 22.  OGUCHI Tomohiro (10377640)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 23.  YOSHIMURA Hidekane (10612997)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 24.  SUZUKI Hiroaki (00419368)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  FUJIOKA Masato (70398626)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  Noguchi Yoshihiro (50282752)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 27.  小川 郁 (00169179)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  松永 達雄 (90245580)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  喜多 知子 (20362519)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 8 results
  • 30.  大西 弘恵 (50397634)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 31.  KATSUNO Tatsuya
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  菅原 一真
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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