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USAMI SHINICHI  宇佐美 真一

ORCIDConnect your ORCID iD *help
… Alternative Names

USAMI Shin-ichi  宇佐美 真一

宇佐見 真一  ウサミ シンイチ

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Researcher Number 10184996
Other IDs
External Links
Affiliation (Current) 2025: 信州大学, 医学部, 特任教授
2025: 信州大学, 先鋭領域融合研究群山岳科学研究拠点, 特任教授
Affiliation (based on the past Project Information) *help 2024: 信州大学, 先鋭領域融合研究群山岳科学研究拠点, 特任教授
2020 – 2023: 信州大学, 医学部, 特任教授
2015 – 2022: 信州大学, 学術研究院医学系, 教授
1999 – 2013: School of Medicine, Shinshu University, Professor, 医学部, 教授
2004: 信州大学, 農学部, 教授 … More
1998: 弘前大学, 医学部, 助教授
1993 – 1996: Hirosaki University School of Medicine Department of Otolaryngology Associate Pr, 医学部, 助教授
1992: 弘前大学, 医学部・附属病院, 講師
1991: 弘前大学, 医学部附属病院, 助手 Less
Review Section/Research Field
Principal Investigator
Otorhinolaryngology / Otorhinolaryngology / Basic Section 45030:Biodiversity and systematics-related / Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields
Except Principal Investigator
Otorhinolaryngology / Basic Section 56050:Otorhinolaryngology-related / Surgery related to the biological and sensory functions and related fields / 宇宙生命学 / Resource conservation science / Otorhinolaryngology
Keywords
Principal Investigator
難聴 / 遺伝子 / 内耳 / 次世代シークエンサー / AMPA / NMDA / 神経伝達物質 / ゲノム / neurotransmitter / inner ear … More / transporter / glutamine / glutamate / レセプター / Neurotransmitter / Immunocytochemistry / Inner Ear / 免疫組織化学 / 聴覚 / 高山蝶 / 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 / 医療・福祉 / 遺伝学 / 遺伝性難聴 / counseling / genetic / genetic testing / phenotype correlations / genotype / deafness / gene / Cx26遺伝子 / DNAチップ / ミトコンドリア遺伝子 / CX26遺伝子 / COCH遺伝子 / KCNQ4遺伝子 / COCH / KCNQ4 / PDS / GJB2 / 遺伝カウンセリング / インベーダー法 / PDS遺伝子 / コネキシン26遺伝子 / point mutation / prevelance / genetics / mitochondria / hearing loss / アミノ配糖体 / 遺伝子変異 / 点変異 / 頻度 / 遺伝 / ミトコンドリア / トランスポーター / グルタミン酸 / In Situ Hybridization / Receptor / in situ hybridization / Amino acid / アミノ酸 / 細胞外マトリソクス / 感音難聴 / 耳科学 / 森林浴 / fNIRS / PET / 嗅覚 / 平衡覚 / 脳機能 / Single minded 2 / brain factor 1 / thymosin beta 4 / SAM / CDH23 / COL9A3 / 老人 / SNPs / 加齢 / 老人性難聴 … More
Except Principal Investigator
遺伝子 / 難聴 / 内耳 / 耳科学 / 聴覚 / 遺伝子発現 / 遺伝性難聴 / 遺伝子発現パターン / ゲノム / 聴覚医学 / SNPs / マウス / レーザーマイクロダイセクション / 次世代シークエンサー / RNA-Seq / ANSD / 人工内耳 / OTOF / 突発性難聴 / マイクロアレイ / KCNQ4 / GIS / 神経伝達物質 / 前庭 / 微小重力 / Pendrin / ペンドリン / 老人性難聴 / コラーゲン / 蓋膜 / 細胞外マトリックス / 感音難聴 / 細胞外マトリクス / 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 / 遺伝学 / 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 / ミトコンドリア / 創薬 / 疾患iPS研究 / iPS細胞 / alternative splicing / 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 / 解剖学 / 神経科学 / ASIC / イオンチャネル / 機械刺激電気変換 / メカノセンサー / 有毛細胞 / 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 / グルタミン / グルタミン酸 / 前庭機能 / 画像診断 / メニエール病 / Himalopsyche japonica / Erebia niphonica / fixed point investigation / monitoring method / butterfly community / rare insect / central mountain area / 照度 / トランセクト調査 / 高山チョウ / DNA / 絶滅危惧種 / オオルリシジミ / オオナガレトビケラ / ベニヒカゲ / 定点調査 / モニタリング手法 / チョウ類群集 / 希少昆虫 / 中部山岳域 / recessive / mitochondrial DNA / genetics / hearing loss / (遺伝性)難聴 / 常染色体劣性遺伝 / ミトコンドリア遺伝子 / 遺伝子解析 / calbindin / Calcium Binding Protein / Senescence Accelerated Mouse / Immunohistochemistry / Vestibular Ganglion / Vestibule / シナプトフィジン / 加齢動物 / 細胞骨格蛋白 / 前庭神経節 / Calbindin / カルシウム結合蛋白 / 加齢促進マウス / 免疫組織化学 / 前庭神経 / 前庭受容器 / DNAマイクロアレイ / 微少重力 / 神経可塑性 / タンパク質機能回復 / WFS1遺伝子 / 低音障害型感音難聴 / マイクロRNA / 電子顕微鏡 / バリアント / 発現解析 / RNA / 細胞外基質 / ラセン靭帯 / 血管条 / 難聴遺伝子 / タンパク質フォールディング / 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 / ABC法 Less
  • Research Projects

    (42 results)
  • Research Products

    (345 results)
  • Co-Researchers

    (65 People)
  •  Phylogenetic analysis of alpine butterfly by using next-generation sequencerPrincipal Investigator

    • Principal Investigator
      宇佐美 真一
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 45030:Biodiversity and systematics-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 specimensPrincipal Investigator

    • 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 ear

    • 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
  •  omprehensive investigations of physiological roles of putative mechanosensory cation channels ASICs expressed in mouse auditory and vestibular hair cells

    • Principal Investigator
      Ugawa Shinya
    • Project Period (FY)
      2017 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Nagoya City University
  •  Gene expression profiles in mice cochlear

    • 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 deafnessPrincipal Investigator

    • 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
  •  Diagnosis of endolymphatic hydrops using 3T MRI in patients with Meniere's disease.

    • Principal Investigator
      FUKUOKA Hisakuni
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort

    • 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
  •  Systematic analysis of the glutamine-gulutamate cycle in the mice inner ear

    • Principal Investigator
      OGUCHI Tomohiro
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • 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
  •  ペンドリン変異体の細胞内における機能回復過程の解明

    • Principal Investigator
      小山 眞
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Tohoku 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
  •  Comprehensive genetic analysis of hearing loss using next generation sequencer.Principal Investigator

    • 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
  •  Creation of a New Method to Refold the Membrane Protein Mutants for Curing of Hereditary Hearing Loss

    • Principal Investigator
      WADA Hiroshi
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Tohoku 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
      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
  •  聴覚・平衡覚・嗅覚刺激が脳機能に及ぼす影響に関する研究Principal Investigator

    • Principal Investigator
      宇佐美 真一
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • 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
  •  Mechanisms of hearing loss caused by the extra-cellar matrix

    • Principal Investigator
      ASAMURA Kenji
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Molecular-genetic analysis of age related hearing impairmentPrincipal Investigator

    • Principal Investigator
      USAMI Shin-ichi
    • Project Period (FY)
      2005 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Development of the quantitative method to monitor rare insects on mountainous areas of central Japan

    • Principal Investigator
      NAKAMURA Hiroshi
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Resource conservation science
    • Research Institution
      Shinshu University
  •  Genetic analysis of deafness and clinical applicationPrincipal Investigator

    • Principal Investigator
      USAMI Shin-ichi
    • Project Period (FY)
      2000 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
  •  Joint Study on Hearing Loss with Mitochondrial DisorderPrincipal Investigator

    • Principal Investigator
      USAMI Shin-ichi
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B).
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Shinshu University
      Hirosaki University
  •  Joint Study on Glutamic Acid Neurotransmission in the Inner EarPrincipal Investigator

    • Principal Investigator
      USAMI Shinichi
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for international Scientific Research
    • Research Institution
      Hirosaki University
  •  Joint Study on Genetic Analysis of Hereditary Hearing Loss

    • Principal Investigator
      SHINKAWA Hideichi
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for international Scientific Research
    • Research Institution
      Hirosaki University
  •  Joint Study on Neuroactive Amino Acids in the Inner EarPrincipal Investigator

    • Principal Investigator
      USAMI Shin-ichi
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for international Scientific Research
    • Research Institution
      Hirosaki University
  •  Study on neurotransmitters and their receptors distributed in the inner ear.Principal Investigator

    • Principal Investigator
      USAMI Shin-ichi
    • Project Period (FY)
      1993 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Hirosaki University
  •  Immunohistochemical study on the vestibular nervous system in senescence accelerated mouse

    • Principal Investigator
      SHINKAWA Hideichi
    • Project Period (FY)
      1991 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Hirosaki University

All 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 Other

All Journal Article Presentation Book Other

  • [Book] きこえと遺伝子22012

    • Author(s)
      宇佐美真一
    • Total Pages
      126
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] 増刊号 術前画像と術中解剖-カンファレンスで突っ込まれないための知識〔特別付録Web動画〕 1.耳領域 人工聴覚器手術2021

    • Author(s)
      野口佳裕, 岡 愛子,宇佐美真一
    • Journal Title

      耳鼻咽喉科・頭頸部外科

      Volume: 93 Issue: 5 Pages: 42-50

    • DOI

      10.11477/mf.1411202674

    • ISSN
      0914-3491, 1882-1316
    • Year and Date
      2021-04-30
    • 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports.2015

    • Author(s)
      Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami SI.
    • Journal Title

      Ann Otol Rhinol Laryngol

      Volume: 124

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25670715
  • [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] 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] 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] 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] 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] USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms.2015

    • Author(s)
      Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami SI.
    • Journal Title

      Ann Otol Rhinol Laryngol

      Volume: 124

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25670715
  • [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] 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] 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] 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] 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] 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] 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] 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] 難聴遺伝子はどこまで解明されたのか2012

    • Author(s)
      宇佐美真一
    • Journal Title

      JOHNS.

      Volume: 28(3) Pages: 292-293

    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] 両側性特発性感音難聴2012

    • Author(s)
      宇佐美真一
    • Journal Title

      JOHNS

      Volume: 28(5) Pages: 775-778

    • Data Source
      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] 残存聴力活用型人工内耳(EAS:electric acoustic stimulation)~低侵襲手術、聴力保存成績、術後聴取能、遺伝的背景について~2012

    • Author(s)
      宇佐美真一
    • Journal Title

      耳鼻臨床

      Volume: 133 Pages: 312-312

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] 人工内耳埋め込み術を行ったCDH23遺伝子変異による難聴症例2012

    • Author(s)
      宮川麻衣子、茂木英明、工穣、宇佐美真一
    • Journal Title

      耳喉頭頸

      Volume: 84 Pages: 59-63

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] 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] 難聴と遺伝子2012

    • Author(s)
      宇佐美真一
    • Journal Title

      耳喉頭頸

      Volume: 84 Pages: 883-890

    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] Inverted papilloma of the middle ear : a case report and review of the literature.2011

    • Author(s)
      Kainuma K, Kitoh R, Kenji S, Usami S.
    • Journal Title

      Acta Otolaryngol.

      Volume: 131 Pages: 216-220

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [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] 難聴の遺伝子診断2011

    • Author(s)
      宇佐美真一
    • Journal Title

      Audiology Japan

      Volume: 54 Pages: 44-55

    • NAID

      10029001688

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] 補聴器と人工内耳の融合残存聴力活用型人工内耳について2011

    • Author(s)
      宇佐美真一
    • Journal Title

      耳鼻咽喉科・頭頸部外科

      Volume: 83(6) Pages: 393-401

    • Data Source
      KAKENHI-PROJECT-22249057
  • [Journal Article] 難聴の遺伝子診断2011

    • Author(s)
      宇佐美真一
    • Journal Title

      日本臨牀

      Volume: 69(2) Pages: 357-367

    • NAID

      10029001688

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] Inverted papilloma of the middle ear: a case report and review of the literature2011

    • Author(s)
      Kainuma K, Kitoh R, Kenji S, Usami S.
    • Journal Title

      Acta Otolaryngol. 131(2)

      Pages: 216-220

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Journal Article] Hybrid carcinoma of the parotid gland: report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature.2010

    • Author(s)
      Kainuma K, Oshima A, Suzuki H, Fukushima M, Shimojo H, Usami S.
    • Journal Title

      Acta Otolaryngol 130(1)

      Pages: 185-189

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [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
  • [Journal Article] Salicylate restores transport function an anion exchanger activity of missense pendrin mutation2010

    • Author(s)
      Ishihara K, Okuyama S, Kumano S, Iida K, Hamana H, Murakoshi M, Kobayashi T, Usami S, Wada H
    • Journal Title

      Hear.Res. 270

      Pages: 110-118

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390439
  • [Journal Article] Hybrid carcinoma of the parotid gland : report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature.2010

    • Author(s)
      Kainuma K, Oshima A, Suzuki H, Fukushima M, Shimojo H, Usami S.
    • Journal Title

      Acta Otolaryngol.

      Volume: 130 Pages: 185-189

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Journal Article] Chondrosarcoma of the nasal septum: A case report2009

    • Author(s)
      Kainuma K, Netsu K, Asamura K, Hayashi K, Takumi Y, Ota H, Usami S.
    • Journal Title

      Auris Nasus Larynx. 36(5)

      Pages: 601-605

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Journal Article] Factors that affect hearing level in individuals with the mitochondrial 1555A>G mutation.2009

    • Author(s)
      Ro SY, Nishio s, Tsukada K, Oguchi T, Kobayashi K, Abe S, Usami S.
    • Journal Title

      Clinic. Gent (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Hybrid carcinoma of the parotid gland: report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature.2009

    • Author(s)
      Kainuma K, Oshima A, Suzuki H, Fukushima M, Shimojo H, Usami S I
    • Journal Title

      Acta Otolaryngol

      Pages: 1-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Journal Article] Chondrosarcoma of the nasal septum: A case report.2009

    • Author(s)
      Kainuma K, Netsu K, Asamura K, Hayashi K, Takumi Y, Ota H, Usami S
    • Journal Title

      Auris Nasus Larynx 36

      Pages: 601-605

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Journal Article] The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea.2008

    • Author(s)
      Usami s, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A, Matsubara A.
    • Journal Title

      Neuroscience 154

      Pages: 22-28

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] The responsible genes in Japanese deafness patients and clinical application using Invader assay2008

    • Author(s)
      Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S
    • Journal Title

      Acta Otolaryngol 128(4)

      Pages: 446-54

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and C0L9A1, genes highly expressed in the cochlea.2008

    • Author(s)
      Usami S, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A, Matsubara A.
    • Journal Title

      Neuroscience 154

      Pages: 22-28

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591977
  • [Journal Article] The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea2008

    • Author(s)
      Usami S, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A, Matsubara A
    • Journal Title

      Neuroscience 154(1)

      Pages: 22-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Kimberling WJ.Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I2008

    • Author(s)
      Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C
    • Journal Title

      Hum Mutat 29(6)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] The responsible genes in Japanese deafness patients and clinical application using Invader assay2008

    • Author(s)
      Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S.
    • Journal Title

      Acta Otolaryngol. 128

      Pages: 446-454

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.2008

    • Author(s)
      Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.
    • Journal Title

      Hum Mutat. 29

      Pages: 37-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.2007

    • Author(s)
      Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.
    • Journal Title

      Clin Genet 72

      Pages: 339-344

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA12007

    • Author(s)
      Matsunaga T, Okada M, Usami S, Okuyama T
    • Journal Title

      Acta Otolaryngol 127(1)

      Pages: 98-104

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Application of Deafness Diagnostic Screening Panel Based on Deafness Mutation/Gene Database Using Invader Assay.2007

    • Author(s)
      Abe S, Yamaguchi T, Usami S.
    • Journal Title

      Genetic Testing 11

      Pages: 333-340

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] micro-Crystallin as an intracellular 3,5,3'-triiodothyronine holder in vivo2007

    • Author(s)
      Suzuki S, Suzuki N, Mori J, Oshima A, Usami S, Hashizume K
    • Journal Title

      Mol Endocrinol 21(4)

      Pages: 885-94

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Immunocytochemical localization of ubiquitin A-52 protein in the mouse inner ear2007

    • Author(s)
      Kitoh R, Oshima A, Suzuki N, Hashimoto S, Takumi Y, Usami S
    • Journal Title

      Neuroreport 18(9)

      Pages: 869-873

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Application of Deafness Diagnostic Screening Panel Based on Deafness Mutation/Gene Database Using Invader Assay.2007

    • Author(s)
      Abe S, Yamaguchi T, Usami S
    • Journal Title

      Genetic Testing 11(3)

      Pages: 333-340

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss2007

    • Author(s)
      Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S
    • Journal Title

      Clin Genet 72(4)

      Pages: 339-44

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Meningioma of the paranasal sinus: a case report.2007

    • Author(s)
      Kainuma K, Takumi Y, Uehara T, Usami S
    • Journal Title

      Auris Nasus Larynx 34

      Pages: 397-400

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Journal Article] Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.2007

    • Author(s)
      TATSUO MATSUNAGA, MICHIYO OKADA, SHIN-ICHI USAMI, TORAYUKI OKUYAMA
    • Journal Title

      Acta Oto-Laryngologica 127

      Pages: 98-104

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese2007

    • Author(s)
      Fukuoka H, Kanda Y, Ohta S, Usami S
    • Journal Title

      J Hum Genet 52(6)

      Pages: 510-515

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.2007

    • Author(s)
      Fukuoka H, Kanda Y, Ohta S, Usami S.
    • Journal Title

      J Hum Genet 52

      Pages: 510-515

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene2006

    • Author(s)
      Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S
    • Journal Title

      Am J Hum Genet 79(3)

      Pages: 449-57

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea.2006

    • Author(s)
      Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S.
    • Journal Title

      J Med Genet 43(6):e25

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea2006

    • Author(s)
      Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S
    • Journal Title

      J Med Genet 43(6)

      Pages: 25-25

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.2006

    • Author(s)
      Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanoenacker F, Declau F, Van de Heyning P, Usami S
    • Journal Title

      Am J Hum Genet 79(3)

      Pages: 449-57

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct2006

    • Author(s)
      Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H
    • Journal Title

      J Hum Genet 51(9)

      Pages: 805-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] 内耳毒性と遺伝子2006

    • Author(s)
      宇佐美 真一
    • Journal Title

      JOHNS 22:NO.7

      Pages: 952-954

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] 難聴診断における遺伝子検査の現状2006

    • Author(s)
      宇佐美 真一
    • Journal Title

      Audiology Japan 49

      Pages: 346-352

    • NAID

      10021298744

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.2006

    • Author(s)
      Matsunaga T, Hirota E, Bito S, Niimi S, Usami S.
    • Journal Title

      Audiol Neurootol 11(1)

      Pages: 59-68

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea.2006

    • Author(s)
      Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S.
    • Journal Title

      J Med Genet (In press)

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular Aqueduct.2006

    • Author(s)
      Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H
    • Journal Title

      J Hum Genet e 51(9)

      Pages: 805-10

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids2005

    • Author(s)
      Matsunaga T, Hirota E, Bito S, Niimi S, Usami S
    • Journal Title

      Audiol Neurootol 11(1)

      Pages: 59-68

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Genetic diagnosis of deafness.2005

    • Author(s)
      Usami S.
    • Journal Title

      Nippon Rinsho 63

      Pages: 258-263

    • NAID

      40017119433

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside.2005

    • Author(s)
      T.Matsunaga, H.Kumanomido, M.Shiroma, Y.Goto, S.Usami.
    • Journal Title

      Ann Otol Rhinol Laryngol 114:2

      Pages: 153-160

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Type IX Collagen is crucial for normal hearing2005

    • Author(s)
      K.Asamura, S.Abe Y.Imamura, A.Aszodi N.Suzuki, S.Hashimoto Y.Takumi, T.Hayashi, R.Fassler Y.Nakamura, S.Usami
    • Journal Title

      Neuroscience 132

      Pages: 493-450

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Clinical features of patients with GJB2(connexin26) mutations : severity of hearing loss is correlated with genotypes and protein expression patterns.2005

    • Author(s)
      T.Oguchi, A.Ohtsuka S.Hashimoto, A.Oshima S.Abe, Y.Kobayashi, K.Nagai T.Nakagawa, S.Usami
    • Journal Title

      J Hum Genet 50

      Pages: 76-83

    • NAID

      10014513264

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] GABA-induced response in spiral ganglion cells acutely isolated from guinea pig cochlea.2005

    • Author(s)
      Nakagawa T, Yamashita M, Hisashi K, Usami SI.Kakazu Y, Shibata S, Nakashima T, Koike K, Kubo K, Komune S.
    • Journal Title

      Neurosci Res 53(4)

      Pages: 396-403

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] 疾患群の遺伝学的検査と遺伝子検査 難聴2005

    • Author(s)
      宇佐美 真一
    • Journal Title

      日本臨床 63

      Pages: 258-263

    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Factors that affect hearing level in individuals with the mitochondrial 1555A>G mutation Clinic

    • Author(s)
      Ro SY, Nishio S, Tsukada K, Oguchi T, Kobayashi K, Abe S, Usami S
    • Journal Title

      Gent. 2008 (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Endolymphatic hydrops and therapeutic effects are visualized in "atypical" Meniere's disease

    • Author(s)
      Miyagawa M, Fukuoka H, Tsukada K, Oguchi1 T, Takumi Y, Sugiura M, Ueda H, Kadoya M, Usami S
    • Journal Title

      Acta Otolaryngol (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Journal Article] Quantitative evaluation of endolymphatic hydrops by bilateral intratympanic Gd-DTPA administration with MRI imaging for Meniere's disease

    • Author(s)
      Fukuoka H, Tsukada K, Miyagawa M, Oguchi T, Takumi1 Y, Sugiura M, Ueda H, Kadoya M, Usami S
    • Journal Title

      Acta Otolaryngol (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] 難聴診断の遺伝子パネル検査2023

    • Author(s)
      宇佐美真一
    • Organizer
      第44回 日本臨床薬理学会
    • Data Source
      KAKENHI-PROJECT-21K19560
  • [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] 日本人難聴患者10047名の遺伝的背景2022

    • Author(s)
      宇佐美真一
    • Organizer
      第67回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-21K19560
  • [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] 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] 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] 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] 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] 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] 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] 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] 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] Variation of the LOXHD1 Mutation and its phenotypic features.2018

    • Author(s)
      Maekawa K, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] TRIOBP regulates the localization of molecules in the inner ear hair cell2018

    • Author(s)
      Shin-ichiro Kitajiri, Tomoko Kita, Raj K Ladher, Shin-ichi Usami
    • Organizer
      Joint Annual Meeting of 51st JSDB and 70th JSCB
    • Data Source
      KAKENHI-PROJECT-17H04345
  • [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] 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] A duplication mutation in HOXA2 causes autosomal dominant nonsyndromic mixed hearing loss and middle ear anomaly.2018

    • Author(s)
      Noguchi Y, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Social health insurance-based comprehensive genetic testing clarified the molecular epidemiology of deafness.2018

    • Author(s)
      Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] Targeted next-generation sequencing analysis of the genotype-phenotype correlation of DFNA8/12 caused by TECTA mutation in 990 autosomal dominant hearing loss patients.2018

    • Author(s)
      Yasukawa R, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] Regulation of the localization of molecules in hair cell stereocilia by TRIOBP.2018

    • Author(s)
      Kitajiri S, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] OTOF mutation analysis with massively parallel DNA sequencing in 2135 Japanese sensorineural hearing loss patients.2018

    • Author(s)
      Iwasa Y, 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] 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] Haplotype analysis of GJB2 mutations: founder effect or mutation hot-spot?2018

    • Author(s)
      Shinagawa J, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] Copy number variation in the STRC gene are a common cause of moderate hearing loss in a Japanese population.2018

    • Author(s)
      Moteki H, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] 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] ヒトiPS細胞を用いたミトコンドリア1555変異難聴の病態解明2018

    • Author(s)
      喜多知子、伊木健浩、水越彬文、宇佐美真一、北尻真一郎
    • Organizer
      第28回日本耳科学会総会・学術講演会
    • 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] 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] ヌーナン症候群および類縁疾患における人工内耳2017

    • Author(s)
      野口佳裕、宮川麻衣子、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-26861365
  • [Presentation] RELATIONSHIP BETWEEN ETIOLOGY AND EARLY AUDITORY DEVELOPMENT AFTER PEDIATRIC COCHLEAR IMPLANTATION.2017

    • Author(s)
      Gonda A, Miyagawa M, Moteki H, Usami S
    • Organizer
      APCSLH 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26861365
  • [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] 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] 眼振検査支援システム(C-Nys)上でのEpley法記録シートの活用ー施行中の眼振と経過についてー2017

    • Author(s)
      工 穰、中村正、福岡久邦、矢野卓也、塚田景大、池田卓生、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • Data Source
      KAKENHI-PROJECT-15K20199
  • [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] Mutation spectrum and genotype-phenotype correlation of hearingloss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.2017

    • Author(s)
      Miyagawa M, Usami S
    • 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] 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] SLC26A4遺伝子変異症例における聴力,めまいの長期経過2017

    • Author(s)
      塚田景大、小林正史、宮川麻衣子、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [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] 小児人工内耳装用児における初期聴性行動の発達について2017

    • Author(s)
      權田綾子、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第62回 日本音声言語医学会総会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] POU4F3遺伝子変異を認めた一例の前庭機能について2017

    • Author(s)
      白井杏湖、太田陽子、西山信宏、河口幸江、宇佐美真一、塚原清彰
    • Organizer
      第76回日本めまい平衡医学会
    • 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-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] Waardenburg症候群における平衡機能の検討2017

    • Author(s)
      渡邊築、塚田景大、小林正史、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • 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-15H02565
  • [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] 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] 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] 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] 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] 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] 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] 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] 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] 軽度・中等度難聴児補聴器購入助成制度によって骨導補聴器購入に至った症例について2017

    • Author(s)
      工 穣、佐藤梨里子、鈴木宏明、茂木英明、宮川麻衣子、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [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] 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、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] 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] SLC26A4遺伝子変異症例における聴力;めまいの長期経過2017

    • Author(s)
      塚田景大、小林正史、宮川麻衣子、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] 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] 両側同時人工内耳埋め込みを行った症例の検討2017

    • Author(s)
      茂木英明、杉山健二郎、塚田景大、宮川麻衣子、野口佳裕、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] 遺伝性難聴から見た蝸牛と前庭2017

    • Author(s)
      塚田景大、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • 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] 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] 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] 小児両側同時人工内耳埋め込み術に関する検討2017

    • Author(s)
      茂木英明、杉山健二郎、塚田景大、宮川麻衣子、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • 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] 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] 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] POU4F3遺伝子変異症例における平衡機能障害の検討2017

    • Author(s)
      北野友裕、塚田景大、小林正史、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • 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、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] Genetics of deafness.2017

    • Author(s)
      Usami SI
    • Organizer
      ENT WORLD CONGRESS (IFOS) 2017
    • Int'l Joint Research
    • 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] 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] 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] 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] 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] 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・松永達雄・宇佐美真一・小川郁
    • Organizer
      第27回日本耳科学会総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-17K19733
  • [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] 耳鼻咽喉科領域の遺伝子診断2017

    • Author(s)
      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] 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] 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-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] 全エキソーム解析で見出された新規難聴原因遺伝子と考えられるCDC14A遺伝子変異症例2016

    • Author(s)
      吉村豪兼、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難聴患者におけるPOU4F3遺伝子変異の検討2016

    • Author(s)
      北野友裕、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing.2016

    • Author(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
      2016-03-06
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 次世代シーケンサーによって見出された日本人難聴患者におけるWFS1遺伝子変異の検討2016

    • Author(s)
      小林正史、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 成人中途失聴者に対する人工内耳症例の検討2016

    • Author(s)
      杉山健二郎、岡晋一郎、宮川麻衣子、鈴木宏明、鬼頭良輔、茂木英明、工 穣、野口佳裕、岩崎聡、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      盛岡グランドホテル
    • Year and Date
      2016-10-19
    • Data Source
      KAKENHI-PROJECT-26861365
  • [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POU4F3遺伝子変異の検討2016

    • Author(s)
      北野友裕、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] 難聴医療従事者に必要な遺伝子診断の知識2016

    • Author(s)
      宇佐美真一
    • 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] 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] 次世代シーケンサーによって見出された日本人難聴患者におけるWFS1遺伝子変異の検討2016

    • Author(s)
      小林正史、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-26861365
  • [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] 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] 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] 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] 内耳研究に魅せられて:形態学から遺伝子研究まで2016

    • Author(s)
      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] 先天性難聴の遺伝子診断における遺伝子コピー数変化(Copy Number Variation)同定の試み2016

    • Author(s)
      茂木英明、宮川麻衣子、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] 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] SLC26A4遺伝子変異症例における平衡障害の検討2016

    • Author(s)
      塚田景大、小林正史、森健太郎、宮川麻衣子、宇佐美真一
    • Organizer
      第75回日本めまい平衡医学会総会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      2016-10-27
    • 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] 先天性難聴の遺伝子診断における遺伝子コピー数変化(Copy Number Variation)同定の試み2016

    • Author(s)
      茂木英明、宮川麻衣子、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] Comprehensive vestibular functions of hereditary hearing loss patiens with GJB2 mutations.2016

    • Author(s)
      Tsukada K, Fukuoka H, Usami S.
    • Organizer
      29th Barany Society Meeting 2016
    • Place of Presentation
      Seoul, Korea
    • Year and Date
      2016-06-05
    • Int'l Joint Research
    • 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] 若年発症型進行性感音難聴を呈したTMPRSS3遺伝子変異例2016

    • Author(s)
      笹森かおり、金城信祐、小林有美子、平海晴一、佐藤宏明、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] 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] 小児に対する残存聴力活用型人工内耳2016

    • Author(s)
      宇佐美真一、茂木英明、宮川麻衣子
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-26861365
  • [Presentation] Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing.2016

    • Author(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] SLC26A4遺伝子変異症例における平衡障害の検討2016

    • Author(s)
      塚田景大、小林正史、森健太郎、宮川麻衣子、宇佐美真一
    • Organizer
      第75回日本めまい平衡医学会総会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      2016-10-27
    • 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
      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] 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による人工内耳装用患者の原因遺伝子解析2015

    • Author(s)
      宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第116回日本耳鼻咽喉科学会総会
    • Place of Presentation
      東京国際フォーラム
    • Year and Date
      2015-05-22
    • Data Source
      KAKENHI-PROJECT-26861365
  • [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] 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] 一側性高度感音難聴に対して人工内耳埋め込み術を施行した2症例~術後経過と使用状況の関連性について2015

    • Author(s)
      鬼頭良輔、茂木英明、宇佐美真一、岩崎聡
    • Organizer
      第25回日本耳科学会総会・学術講演会
    • Place of Presentation
      長崎ブリックホール(長崎県長崎市)
    • Year and Date
      2015-10-07
    • Data Source
      KAKENHI-PROJECT-25861543
  • [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] 次世代シーケンスの臨床応用~先天性難聴、遺伝性結合組織疾患のパネル解析を中心に~2015

    • Author(s)
      宇佐美真一
    • Organizer
      第39回日本遺伝カウンセリング学術集会
    • Place of Presentation
      三井ガーデンホテル千葉(千葉県千葉市)
    • Year and Date
      2015-06-28
    • Invited
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [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] 日本人難聴患者におけるSLC17A8遺伝子の解析2015

    • Author(s)
      横田陽、宮川麻衣子、茂木英明、西尾信哉、小口智啓、宇佐美真一
    • Organizer
      第4回 耳鼻咽喉科フロンティアカンファレンス
    • Place of Presentation
      グランドホテル大雪、旭川
    • Year and Date
      2015-09-05
    • Data Source
      KAKENHI-PROJECT-25861542
  • [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] 難聴の遺伝子診断とその社会的貢献2015

    • Author(s)
      宇佐美真一
    • Organizer
      第116回日本耳鼻咽喉科学会総会
    • Place of Presentation
      東京国際フォーラム(東京都千代田区)
    • Year and Date
      2015-05-22
    • Invited
    • Data Source
      KAKENHI-PROJECT-15H02565
  • [Presentation] Importance of Genetic Testing for Cochlear Implantation Candidate2015

    • Author(s)
      Usami S.
    • Organizer
      10th APSCI 2015
    • Place of Presentation
      北京、中国
    • Year and Date
      2015-05-03
    • 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] 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] 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] 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] OTOF mutation screening in Japanese severe to profound recessive hearing loss patients2013

    • Author(s)
      Iwasa Y, Suzuki H, Usami S
    • Organizer
      12th Taiwan-Japan Conference on Otolaryngology Head and Neck surgery
    • Place of Presentation
      Taiwan University Hospital
    • Data Source
      KAKENHI-PROJECT-25861544
  • [Presentation] OTOF遺伝子変異によるAuditory neuropathy症例の臨床像と人工内耳の効果に関する検討2013

    • Author(s)
      岩佐陽一郎、吉村豪兼、工 穣、宇佐美真一
    • Organizer
      第8回 日本小児耳鼻咽喉科学会総会
    • Place of Presentation
      前橋
    • Data Source
      KAKENHI-PROJECT-25861544
  • [Presentation] 難聴のパーソナル医療:遺伝子診断から人工内耳まで2012

    • Author(s)
      宇佐美真一
    • Organizer
      第36回 日本遺伝カウンセリング学会
    • Place of Presentation
      信大附属病院外来棟 4F
    • 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] 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、宇佐美真一
    • Organizer
      第71回日本めまい平衡医学会総会
    • Place of Presentation
      学術総合センター(東京)
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] 難聴の遺伝子診断の進歩と臨床応用2012

    • Author(s)
      宇佐美真一
    • Organizer
      第116回日本眼科学会総会
    • Place of Presentation
      東京国際フォーラム
    • 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] 難聴のパーソナル医療:遺伝子診断から人工内耳まで2012

    • Author(s)
      宇佐美真一
    • Organizer
      第36回 日本遺伝カウンセリング学会
    • Place of Presentation
      信州大学(松本市)
    • 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] MYO15A 遺伝子変異を認めた両側高度感音難聴の1症例2012

    • Author(s)
      矢野卓也、小林有美子、佐藤宏明、宇佐美真一
    • Organizer
      第74回耳鼻咽喉科臨床学会
    • Place of Presentation
      東京ドームホテル
    • 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] 日本人高度感音難聴患者における OTOF 遺伝子変異の頻度の検討2012

    • Author(s)
      岩佐陽一郎、宇佐美真一
    • Organizer
      第113回日本耳鼻咽喉科学会総会・学術講演会
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] Genetics and presbycusis2012

    • Author(s)
      Usami S
    • Organizer
      Presbycusis Reseach Meetings 2012
    • Place of Presentation
      ミュンヘン/ドイツ
    • 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] 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、宇佐美真一
    • Organizer
      第71回日本めまい平衡医学会
    • Place of Presentation
      東京
    • Year and Date
      2012-11-29
    • Data Source
      KAKENHI-PROJECT-23592478
  • [Presentation] サリチル酸がペンドリンH723R変異ノックインマウスの聴覚に与える影響2012

    • Author(s)
      池原 康裕, 小山 眞, 村越 道生, 池田 怜吉, 中谷 和弘, 橋本 繁成, 西尾 信哉, 工 穣, 大島 猛史, 宇佐美 真一, 小林 俊光, 和田 仁
    • Organizer
      第24回バイオエンジニアリング講演会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-23592473
  • [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] 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] 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] Genetics markers and hearing preservation2011

    • Author(s)
      Shin-ichi Usami
    • Organizer
      Collegium Oto-Rhino-laryngologium Amicitiae Sacrum
    • Place of Presentation
      ベルギー
    • Year and Date
      2011-09-05
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] The genetic background of the patients with cochlear implantation2011

    • Author(s)
      Usami S
    • Organizer
      The 8th Asia Pacific Symposium on Cochlear Implant and Related science(APSCI 2011)
    • Place of Presentation
      Korea
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Effects of salicylate on sensorineural hearing loss in Pendred syndrome2011

    • Author(s)
      Ikehara Y, Koyama S, Murakoshi M, Ikeda R, Nakaya K, Hashimoto S, Nishio S, Takumi Y, Oshima T, Usami S, Kobayashi T, Wada H
    • Organizer
      The 5th East Asian Pacific Student Workshop on Nano-Biomedical Engineering
    • Place of Presentation
      シンガポール
    • Data Source
      KAKENHI-PROJECT-23592473
  • [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] 難聴の遺伝子解析と臨床応用に関する研究2011

    • Author(s)
      Usami S
    • Organizer
      北京国際耳科学会
    • Place of Presentation
      北京/中国
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] Genetic markers and hearing preservation Collegium2011

    • Author(s)
      Usami S
    • Organizer
      Oto-Rhino-laryngologium Amicitiae Sacrum
    • Place of Presentation
      ベルギー
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] 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] サリチル酸がC57BL/6マウスの聴覚に与える影響2011

    • Author(s)
      池原 康裕, 小山 眞, 村越 道生, 池田 怜吉, 中谷 和弘, 橋本 繁成, 西尾 信哉, 工 穣, 大島 猛史, 宇佐美 真一, 小林 俊光, 和田 仁
    • Organizer
      第22回バイオフロンティア講演会
    • Place of Presentation
      津
    • Data Source
      KAKENHI-PROJECT-23592473
  • [Presentation] 難聴の遺伝子解析と臨床応用に関する研究2011

    • Author(s)
      Shin-ichi Usami
    • Organizer
      北京国際耳科学会
    • Place of Presentation
      北京(招待講演)
    • Year and Date
      2011-08-04
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] The effect of Microgravity on Gene Expression in the Vestibular Endorgans.2011

    • Author(s)
      Oguchi T. Suzuki N. Takumi Y. 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] Genetic diagnosis of Japanese congenital deafness using Invader assay2011

    • Author(s)
      Yutaka Takumi, Shinichi Usami
    • Organizer
      11^<th> Japan-Taiwan Conference on Otolaryngology-Head and Neck Surgery
    • Place of Presentation
      神戸
    • Year and Date
      2011-12-08
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 人工内耳の新しい流れ: EAS と低侵襲手術2011

    • Author(s)
      宇佐美真一
    • Organizer
      第21回日本耳科学会総会
    • Place of Presentation
      沖縄コンベンションセンター
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] The genetic background of the patients with cochlear implantation2011

    • Author(s)
      Shin-ichi Usami
    • Organizer
      The 8th Asia Pacific Symposium on Cochlear Implant and Related science (APSCI 2011)
    • Place of Presentation
      韓国
    • Year and Date
      2011-10-26
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Genetics markers and hearing preservation with Japanese children.13th Symposium on Cochlear2011

    • Author(s)
      Usami S
    • Organizer
      Implants Children
    • Place of Presentation
      シカゴ/アメリカ
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Achievement of hearing preservation in the presence of an electrode covering the residual hearing region.2011

    • Author(s)
      Usami S
    • Organizer
      The 8th Asia Pacific Symposium on Cochlear Implant and Related science(APSCI 2011)
    • Place of Presentation
      Korea
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] The effect of Microgravity on Gene Expression in the Vestibular Endorgans2011

    • Author(s)
      Oguchi T, Suzuki N, Takumi Y, 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] 信州大学における難聴医療の現況2011

    • Author(s)
      宮川麻衣子、茂木英明、工穣、宇佐美真一
    • Organizer
      第73回耳鼻咽喉科臨床学会
    • Place of Presentation
      松本
    • Year and Date
      2011-06-23
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Genetics markers and hearing preservation with Japanese children2011

    • Author(s)
      Shin-ichi Usami
    • Organizer
      13th Symposium on Cochlear Implants Children
    • Place of Presentation
      シカゴ
    • Year and Date
      2011-07-14
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Gene expression pattern after insertion of dexamethasone eluting electrode2010

    • Author(s)
      Usami S
    • Organizer
      HEARING PRESERVATION WORKSHOP IX
    • Place of Presentation
      MIAMI,FLORIDA/アメリカ
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] 福島邦博先進医療(先天性難聴の遺伝子診断)の現況2010

    • Author(s)
      宇佐美真一、熊川孝三、東野哲也
    • Organizer
      第111回日本耳鼻咽喉科科学会総会・学術講演会
    • Place of Presentation
      仙台国際センター
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] The responsible genes for Japanese deafness patients and clinical application using Invader assay2010

    • Author(s)
      Usami S
    • Organizer
      2nd East Asian Symposium in Otology
    • Place of Presentation
      国立台湾大学/台湾
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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] 内耳におけるコラーゲン遺伝子バリアントのプロファイリング2010

    • Author(s)
      菊池安剛、鈴木伸嘉、橋本繁成、工穣、宇佐美真一
    • Organizer
      第20回日本耳科学会総会・学術講演会
    • Year and Date
      2010-10-07
    • Data Source
      KAKENHI-PROJECT-20591977
  • [Presentation] 遺伝性難聴2010

    • Author(s)
      宇佐美真一
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-22249057
  • [Presentation] Gene-related hearing loss and cochlear implantation in Japan2010

    • Author(s)
      Usami S
    • Organizer
      シーボルト記念シンポジウム
    • Place of Presentation
      長崎大学
    • Data Source
      KAKENHI-PROJECT-22249057
  • [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、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] 舌癌T1-2N0症例の後発リンパ節転移の検討2009

    • Author(s)
      鈴木宏明、海沼和幸、我妻道生、宇佐美真一
    • Organizer
      第33回日本頭頸部癌学会
    • Place of Presentation
      札幌
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Presentation] SNP frequency in COCH is involved in Age-Related Hearing Impairment in aged Japanese2009

    • Author(s)
      Shigenari Hashimoto, Shinshu University Gene Research Consortium, NPO JTR, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami
    • Organizer
      「運動・遺伝子・予防医療」第3回国際シンポジウム
    • Place of Presentation
      松本
    • Year and Date
      2009-03-16
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] 当科における大唾液腺癌の検討2009

    • Author(s)
      海沼和幸、鈴木宏明、我妻道生、宇佐美真一
    • Organizer
      第33回日本頭頸部癌学会
    • Place of Presentation
      札幌
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Presentation] SNP frequency in COCH is involved in Age-Related Hearing Impairment in aged Japanese2009

    • Author(s)
      Hashimoto S, Shinshu University Gene Research Consortium, NPO JTR, Nishio S, Takumi Y, Usami S
    • Organizer
      第3回運動・遺伝子・予防医療国際シンポジウム
    • Place of Presentation
      松本
    • Year and Date
      2009-03-16
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] SAMP1の内耳における遺伝子発現について2008

    • Author(s)
      鈴木伸嘉, 橋本繁成, 森政之, 樋口京一, 宇佐美真一
    • Organizer
      老化促進モデルマウス(SAM)研究協議会第23回研究発表会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-19791202
  • [Presentation] 日本人難聴患者に見出されたTECTA遺伝子変異についての検討2008

    • Author(s)
      茂木英明, 塚田景大, 橋本繁成, 工穣, 宇佐美真一
    • Organizer
      第18回日本耳科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2008-10-18
    • Data Source
      KAKENHI-PROJECT-20591977
  • [Presentation] 老人性難聴における遺伝的素因の検討 : セカンドコホートでの解析およびプロモーター領域の検討2008

    • Author(s)
      橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
    • Organizer
      第18回日本耳科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2008-10-18
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] 遺伝子と脳機能が評価できた先天性難聴症例2008

    • Author(s)
      茂木英明, 鬼頭良輔, 菊池景子, 工穣, 宇佐美真一, 内藤泰, 前田麻貴, 北野庸子
    • Organizer
      第53回日本聴覚医学会総会
    • Place of Presentation
      東京
    • Year and Date
      2008-10-02
    • Data Source
      KAKENHI-PROJECT-19659435
  • [Presentation] 老人性難聴における遺伝的素因の検討 : セカンドコホートでの解析およびプロモーター領域の検討2008

    • Author(s)
      橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
    • Organizer
      第18回日本耳科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2008-10-17
    • Data Source
      KAKENHI-PROJECT-20591977
  • [Presentation] 舌骨原発軟骨肉腫の1例2008

    • Author(s)
      海沼和幸、鬼頭良輔、宇佐美真一
    • Organizer
      第70回耳鼻咽喉科臨床学会
    • Place of Presentation
      長崎
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Presentation] SAMP1の内耳における遺伝子発現について2008

    • Author(s)
      鈴木伸嘉, 橋本繁成, 森政之, 樋口京一, 宇佐美真一
    • Organizer
      第31回日本基礎老化学会
    • Place of Presentation
      長野
    • Data Source
      KAKENHI-PROJECT-19791202
  • [Presentation] 日本人難聴患者に見出されたTECTA遺伝子変異についての検討2008

    • Author(s)
      茂木英明, 塚田景大, 橋本繁成, 浅村賢二, 工穣, 宇佐美真一
    • Organizer
      第18回日本耳科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2008-10-17
    • Data Source
      KAKENHI-PROJECT-18791199
  • [Presentation] 老人性難聴における遺伝的素因の検討 : セカンドコホートでの解析およびプロモーター領域の検討2008

    • Author(s)
      橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
    • Organizer
      第回18日本耳科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2008-10-18
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] SNP frequency in COCH is involved in Age-Related Hearing Impairment in aged Japanese2007

    • Author(s)
      橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
    • Organizer
      国際老人性難聴会議
    • Place of Presentation
      ベルギー
    • Year and Date
      2007-05-23
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] 耳下腺良性腫瘍の術後顔面神経麻痺に関する検討2007

    • Author(s)
      海沼和幸、塚田景大、鈴木宏明、浅村賢二、宇佐美真一
    • Organizer
      第31回日本頭頸部癌学会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19791203
  • [Presentation] SAMの内耳における遺伝子発現について2007

    • Author(s)
      鈴木伸嘉, 橋本繁成, 工穣, 宇佐美真一
    • Organizer
      第22回老化促進モデルマウス(SAM)研究協議会
    • Place of Presentation
      山形
    • Year and Date
      2007-07-26
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] 老人性難聴における遺伝的因子の関与について-老人性難聴候補遺伝子のSNP遺伝子型と聴力との相関解析-2007

    • Author(s)
      橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
    • Organizer
      第17回日本耳科学会
    • Place of Presentation
      福岡
    • Year and Date
      2007-10-19
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] Gene expression profiles in the cochlea of the senescence-accelerated mouse (SAM)2007

    • Author(s)
      鈴木伸嘉, 橋本繁成, 工穣, 宇佐美真一
    • Organizer
      国際老人性難聴会議
    • Place of Presentation
      ベルギー
    • Year and Date
      2007-05-25
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] SAM の内耳における遺伝子発現について2007

    • Author(s)
      鈴木伸嘉, 橋本繁成, 工穣, 宇佐美真一
    • Organizer
      第17回日本耳科学会
    • Place of Presentation
      福岡
    • Year and Date
      2007-10-18
    • Data Source
      KAKENHI-PROJECT-17390459
  • [Presentation] 長野県における軽度・中等度難聴児補聴器購入助成事業の現状

    • Author(s)
      鈴木伸嘉、宇佐美真一
    • Organizer
      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-26861366
  • [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] 補聴器適合検査の指針(2010)における検査結果の変化

    • Author(s)
      鈴木伸嘉、宇佐美真一
    • Organizer
      聴覚医学会
    • Place of Presentation
      海峡メッセ下関・下関市・山口県
    • Year and Date
      2014-11-27 – 2014-11-28
    • Data Source
      KAKENHI-PROJECT-26861366
  • [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EAS術後成績の検討ー

    • Author(s)
      宮川麻衣子、宇佐美真一
    • Organizer
      第76回耳鼻咽喉科臨床学会
    • Place of Presentation
      盛岡グランドホテル・盛岡・岩手県
    • Year and Date
      2014-06-26 – 2014-06-27
    • 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] 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] 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] 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.  NISHIO Shinya (70467166)
    # of Collaborated Projects: 25 results
    # of Collaborated Products: 170 results
  • 2.  TAKUMI Yutaka (70312501)
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    # of Collaborated Products: 45 results
  • 3.  HASHIMOTO Shigenari (90359729)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 8 results
  • 4.  SUZUKI Nobuyoshi (20377641)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 18 results
  • 5.  KITO Ryousuke (80419358)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 7 results
  • 6.  MOTEKI Hideaki (60422698)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 37 results
  • 7.  NAITO Takehiko (50467164)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 10 results
  • 8.  MIYAKAWA Maiko (60467165)
    # of Collaborated Projects: 2 results
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  • 9.  MATUBARA Atsushi (10260407)
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  • 10.  IWASA Yohichirou (10613002)
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  • 11.  HIGUCHI Kyouichi (20173156)
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  • 12.  TSUKADA Keita (90419375)
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  • 13.  WADA Hiroshi (30111264)
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  • 14.  KOBAYASHI Toshimitsu (80133958)
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  • 15.  FUKUOKA Hisakuni (90419391)
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  • 16.  OGUCHI Tomohiro (10377640)
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    # of Collaborated Products: 10 results
  • 17.  SHINKAWA Hideichi (90125584)
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  • 18.  Noguchi Yoshihiro (50282752)
    # of Collaborated Projects: 2 results
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  • 19.  Kitajiri Shin-ichiro (00532970)
    # of Collaborated Projects: 2 results
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  • 20.  村越 道生 (70570901)
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  • 21.  小山 眞 (10465487)
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  • 22.  オッターセン ウレ・ペッ
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  • 23.  ASAMURA Kenji (40377627)
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  • 24.  KAINUMA Kazuyuki (30334907)
    # of Collaborated Projects: 1 results
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  • 25.  ISHIHARA Kenji (00312596)
    # of Collaborated Projects: 1 results
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  • 26.  KUMAGAI Izumi (10161689)
    # of Collaborated Projects: 1 results
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  • 27.  KUMAKAWA Kozo (40142252)
    # of Collaborated Projects: 1 results
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  • 28.  SATO Hiroaki (40215827)
    # of Collaborated Projects: 1 results
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  • 29.  TONO Tetsuya (80145424)
    # of Collaborated Projects: 1 results
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  • 30.  FURUYA Nobuhiko (80107606)
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  • 31.  NAGAI Kyoko (50302469)
    # of Collaborated Projects: 1 results
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  • 32.  IKENO Keiichi (50221065)
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  • 33.  FUJITA Shigetoshi (70261451)
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  • 34.  NAKAMURA Hiroshi (70123768)
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  • 35.  HOSHIKAWA Kazutoshi (40115374)
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  • 36.  ITO Tateo (40051817)
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  • 37.  YOSHIMURA Hidekane (10612997)
    # of Collaborated Projects: 1 results
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  • 38.  SUZUKI Hiroaki (00419368)
    # of Collaborated Projects: 1 results
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  • 39.  Ugawa Shinya (20326135)
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  • 40.  FUJIOKA Masato (70398626)
    # of Collaborated Projects: 1 results
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  • 41.  Yano Takuya (10511058)
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  • 42.  我妻 道夫 (00419409)
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  • 43.  浜名 洋 (90551549)
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  • 44.  飯田 浩司 (00451534)
    # of Collaborated Projects: 1 results
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  • 45.  甲田 英子 (20322133)
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  • 46.  佐藤 圭司 (90293480)
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  • 47.  吉田 利男 (20021214)
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  • 48.  柴田 泰宏 (10534745)
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  • 49.  島田 昌一 (20216063)
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  • 50.  熊本 奈都子 (30467584)
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  • 51.  村上 信五 (80157750)
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  • 52.  植田 高史 (90244540)
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  • 53.  小川 郁 (00169179)
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  • 54.  松永 達雄 (90245580)
    # of Collaborated Projects: 1 results
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  • 55.  喜多 知子 (20362519)
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  • 56.  大西 弘恵 (50397634)
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  • 57.  OTTERSEN Ole petter
    # of Collaborated Projects: 1 results
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  • 58.  ウレ・ペッター・ オッタ
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  • 59.  キンバーリング ウイリア
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  • 60.  KIMBERLING W.J
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  • 61.  OTTERSEN O.P
    # of Collaborated Projects: 1 results
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  • 62.  OTTERSEN Ole
    # of Collaborated Projects: 1 results
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  • 63.  KIMBERLING W
    # of Collaborated Projects: 1 results
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  • 64.  KATSUNO Tatsuya
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 65.  菅原 一真
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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