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HOTTA Yoshihiro  堀田 喜裕

ORCIDConnect your ORCID iD *help
… Alternative Names

堀田 嘉裕  ホッタ ヨシヒロ

堀田 善裕  ホッタ ヨシヒロ

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Researcher Number 90173608
Other IDs
External Links
Affiliation (based on the past Project Information) *help 2005 – 2023: 浜松医科大学, 医学部, 教授
2000 – 2003: HAMAMATSU UNIV.SCHOOL OF MED., INSTRUCTOR, 医学部, 教授
1993 – 1999: 順天堂大学, 医学部, 講師
1998: 順天堂大学, 医学部・眼科学, 講師
1991: 順天堂大学, 医学部眼科, 助手
1990 – 1991: Juntendo Univ., Ophthalmology, Assistant, 医学部・眼科, 助手
1989: 順天堂大学, 助手
Review Section/Research Field
Principal Investigator
Ophthalmology / Ophthalmology / Basic Section 56060:Ophthalmology-related
Except Principal Investigator
Ophthalmology / Ophthalmology / Basic Section 56060:Ophthalmology-related / Otorhinolaryngology / Biological Sciences
Keywords
Principal Investigator
遺伝子診断 / 希少眼疾患 / RNA / 次世代シークエンサー / 遺伝子変異解析 / 変異解析 / 網膜色素変性 / 難治性未診断眼疾患 / 網膜ジストロフィー / Uniparental disomy … More / RPGRIP1 / NEK1 / CDK9 / 難治性未診断疾患 / 遺伝子解析 / 未診断眼疾患 / 未診断眼疾患患者 / ターゲットシークエンス解析 / Leber's disease / Color anomaly / Glaucoma / Mutation / Gene / Genetic heterogeneity / Corneal dystrophy / Retinal dystrophy / REP1遺伝子 / βIGH3遺伝子 / XLRS1遺伝子 / RETGC遺伝子 / コロイデレミア / 網膜分離症 / レーベル先天盲 / M1S1遺伝子 / TGFBI遺伝子 / 膠様滴状角膜ジストロフィ / 格子状角膜ジストロフィ / Reis-Bucklers角膜ジストロフィ / 顆粒状角膜ジストロフィ / Avellino角膜ジストロフィ / レーベル病 / 色覚異常 / 緑内障 / 変異 / 遺伝子 / 遺伝的異質性 / 角膜ジストロフィ / 網膜ジストロフィ / molecular biology / vitreous / gene therapy / gene expression / gene transfer / vector / 分子生物学 / 硝子体 / 遺伝子治療 / 遺伝子発現 / 遺伝子移入 / ベクタ- / 遺伝性網膜変性 / RPE65 / 常染色体劣性遺伝 / 遺伝子変異 / 遺伝学 / USH2A / EYS / 常染色体劣性 … More
Except Principal Investigator
遺伝子診断 / cDNA / 網膜色素変性 / 加齢黄斑変性 / ロドプシン / 網膜光障害 / 遺伝子変異 / 遺伝子解析 / ミトコンドリアDNA / XLRS1遺伝子 / FKBP / retinitis pigmentosa / RDS / ペリフェリン / cDNAライブラリー / フェリチン / 角膜ジストロフィ / 分子生物学 / コロイデレミア / ロドプシン遺伝子 / 網膜変性 / EYS / 遺伝子変異解析 / ラット / 戻し交配 / 連続戻し交配 / 遺伝子 / 遺伝学 / 遺伝性眼疾患 / レーバー先天黒内障 / 若年発症網膜ジストロフィ / RPGRIP1 / 全ゲノム解析 / EORD / LCA / 強制発現 / 免疫細胞染色 / 免疫沈降 / クローニング / ハプロタイプ / 遺伝子改変動物 / 生体計測 / 遺伝子変異探索 / 早発型発達緑内障 / 先天白内障 / 先天緑内障 / ミトコンドリア異常 / 外眼筋麻痺 / ミトコンドリア / 慢性進行性外眼筋麻痺 / テーラーメード医療 / 眼遺伝学 / レーバー先天盲 / 次世代シークエンサー / Leber先天盲 / 先天性視覚障害 / EYS遺伝子 / SV40 Large T antigen / transgenic mice / transducine / tumor / cultured cell / rod / cone / Photoreceotor / 色覚オプシン / 培養系 / SV40 LargeT抗原 / トランスジェニックマウス / トランスデューシン / 癌化 / 培養細胞系 / 杆体 / 錐体 / 視細胞 / macular translocation surgery / superior oblique muscle / torsional diplopia / binocularity / strabismus / 両眼視機能 / 斜視手術 / 画像診断 / 網膜回転術 / 上斜筋 / 回旋複視 / 両眼視 / 斜視 / Phenotype / Epidemiology / Usher syndrome / Vertigo / Tinnitus / Hearing impairment / Retinitis Pigmentosa / 疫学調査 / 視聴覚障害 / 遺伝子表現型 / 耳鳴 / 遺伝子表現形 / 疫学 / アッシャー症候群 / めまい / 耳鳴り / 難聴 / 網膜色素変性症 / CACNA1F gene / XLRS1 gene / RDH5 gene / incomplete congenital stationary night blindness / fundus albipunctatus / X-linkedjuvenile retinoschisis / molecular genetics / hereditary retinal diseases / CACNA1F遺伝子 / RDH5遺伝子 / 不全型先天停止性夜盲 / 先天性網膜分離症 / 眼底白点症 / 分子遺伝 / 遺伝性眼底疾患 / phenotype / mutation / Leber's optic neuropathy / XLRSI gene / REP-1 gene / X-linked retinoschisis / choroideremia / XRS遺伝子 / X連鎖コーンジストロフィ / 候補遺伝子アプローチ / レーベル視神経萎縮症 / 遺伝子型 / X連鎖網膜分離症 / 表現型 / レーベル視神経萎縮 / XLRSI遺伝子 / REP-1遺伝子 / X連鎖性網膜分離症 / corneal dystrophy / alpha1 type VIII collagen / thrombospondin / NADH ubiquinone / cornea / 膠様滴状角膜ジストロフィ / ウイルスベクター / 遺伝子導入 / 連鎖分析 / 候補遺伝子 / SPARC / K-グリピカン / NADHユビキノ酸化還元酵素 / α1タイプVIIIコラーゲン / トロンボスポンジン / NADHユビキノン酸化還元酵素 / 角膜 / beta-cGMP-PDE gene / RDS gene / peripherin / rhodopsin gene / Best's disease / macular degeneration / rod-cone dystrophy / cone-rod dystrophy / beta-cGMP-PDE / リカバリン / β-cGMP-PDE / 黄班変性 / 杆体錐体ジストロフィ / β-cGMP-PDE遺伝子 / RDS遺伝子 / ベスト病 / 黄斑変性 / 杆体ジストロフィ / 錐体杆体ジストロフィ / rapamycin binding protein / FK-506 / Ferritin / Corneal endothelium / Rabbit / Prealbumin / Gene / Corneal dystrophy / NADH-ユビキノン酸化還元酵素 / 家兎角膜内皮細胞 / プラスマイナススクリーニング / SSCP / プレアルブミン遺伝子 / 格子状角膜変性症 / 膠様滴状角膜変性症 / FK-506結合タンパク質 / 角膜内皮 / ウサギ / プレアルブミン / Molecular biology / Genetic counseling / Leber's disease / Choroideremia / Rhodopsin gene / Autosomal dominant retinitis pigmentosa / Chorioretinal diseases / X-linked / DNA多型性(RFLP) / 遺伝相談 / レ-ベル病 / 常染色体優性網膜色素変性症 / 網脈絡膜変性症 / X染色体 / 光 / 感受性遺伝子 / 次世代シーケンサー / エキソーム解析 / 責任遺伝子 / 系統差 / 常染色体劣性遺伝 / 高眼圧症 / 重複 / 欠失 / マイクロアレイ / ゲノムワイド解析 / CNV / コピー数多型 / 正常眼圧緑内障 / 開放隅角緑内障 / 感受性 / 1塩基多型 / アポトーシス / 多型解析 / モリス水迷路 / 拡張候補遺伝子アプローチ / モデル動物 / 原因遺伝子 / 脳神経疾患 / 情報工学 / ゲノム / 緑内障 / 光関連疾患 / データベース / 拡張侯補遺伝子アプローチ / ゲノム悉皆解析法 Less
  • Research Projects

    (26 results)
  • Research Products

    (261 results)
  • Co-Researchers

    (54 People)
  •  最新のインフォマティクス解析による若年発症網膜ジストロフィの分子基盤の解明

    • Principal Investigator
      鳥居 薫子
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56060:Ophthalmology-related
    • Research Institution
      Hamamatsu University School of Medicine
  •  Establishing a new disease concept and developing diagnostic methods for intractable and undiagnosed eye diseases in JapanPrincipal Investigator

    • Principal Investigator
      HOTTA Yoshihiro
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56060:Ophthalmology-related
    • Research Institution
      Hamamatsu University School of Medicine
  •  Functional analysis of PANK4 and elucidation of an onset mechanism in age-related macular degeneration

    • Principal Investigator
      Ohishi Kentaro
    • Project Period (FY)
      2018 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56060:Ophthalmology-related
    • Research Institution
      Hamamatsu University School of Medicine
  •  Construction of a comprehensive regional medical system and development of diagnostic method for rare and undiagnosed eye disease patients in JapanPrincipal Investigator

    • Principal Investigator
      Hotta Yoshihiro
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Development of the simple diagnostic method for the patients with chronic progressive external ophthalmoplegia and the construction of the database

    • Principal Investigator
      Hikoya Akiko
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Development of diagnosis program and clinical application with congenital visual impairment patients for tailor-made medicine

    • Principal Investigator
      Hosono Katsuhiro
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  3D-analysis using biometric technology and the database construction for elucidating the pathological mechanism with congenital cataract

    • Principal Investigator
      Tachibana Nobutaka
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Development of genetic diagnosis for Japanese Retinitis Pigmentosa patients using next generation sequencerPrincipal Investigator

    • Principal Investigator
      Hotta Yoshihiro
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Investigation of a new mechanism of age-related macular degeneration using a rat model of retinal photic injury: targeted exome analysis for a responsible genomic region

    • Principal Investigator
      Ohishi Kentaro
    • Project Period (FY)
      2013 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  The development and clinical application of EYS gene mutation diagnosis in Japanese Retinitis pigmentosa patients

    • Principal Investigator
      HOSONO Katsuhiro
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Genetic Diagnosis System for Retinitis Pigmentosa Patients: Large-scale collection and mutation analyses of Japanese RP patientsPrincipal Investigator

    • Principal Investigator
      HOTTA YOSHIHIRO
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Investigation for the genetic factor of glaucoma in another viewpoint: an analysis of possible involvement of copy number variation (CNV) in genome

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Genotype-phenotype analysis and prevalence study of disease-causing mutations in the EYS gene among Japanese patients with retinitis pigmentosa

    • Principal Investigator
      HOSONO Katsuhiro
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Identification of candidate genes responsible for an increased susceptibility of age-related macular degeneration using an animal model and its application to gene diagnosis.

    • Principal Investigator
      OHISHI Kentaro
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Exploration of disease-causative and -associated genes and prospect of novel molecular/cellular phenomenon

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2005 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Hamamatsu University School of Medicine
  •  Establishment of immortalized culture-cells derived from cone and rod photoreceptors and construction of in vitro model system of retinal diseases

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2005 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Analysis of pathology in usher syndrome by method of molecular biology.

    • Principal Investigator
      IWASAKI Satoshi
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE
  •  Study of pathophysiology and treatment of superior oblique palsy.

    • Principal Investigator
      SATO Miho
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE
  •  Molecular genetic analysis of hereditary retinal diseases

    • Principal Investigator
      NAKAMURA Makoto
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Nagoya University
  •  A study concerning the association between genotype and phenotype in the inherited ocular diseasesPrincipal Investigator

    • Principal Investigator
      HOTTA Yoshihiro
    • Project Period (FY)
      1998 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
      Juntendo University
  •  Analysis of gene mutations in retinal dystrophies

    • Principal Investigator
      HAYAKAWA Mutsuko
    • Project Period (FY)
      1996 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Juntendo University School of Medicine
  •  Molecular biological study of corneal dystrophy

    • Principal Investigator
      KANAI Atsushi
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Juntendo University School of Medicine
  •  Candidate gene approach in corneal degenerations

    • Principal Investigator
      KANAI Atsushi
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Juntendo University
  •  Candidate gene approach of retinitis pigmentosa

    • Principal Investigator
      HAYAKAWA Mutsuko
    • Project Period (FY)
      1993 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Juntendo University School of Medicine
  •  Trial of the expression vector DNA injection to the eyePrincipal Investigator

    • Principal Investigator
      HOTTA Yoshihiro
    • Project Period (FY)
      1990 – 1991
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Juntendo University School of Medicine
  •  DNA Diagnosis of X-linked Chorioretinal Degenerations

    • Principal Investigator
      HAYAKAWA Mutsuko
    • Project Period (FY)
      1989 – 1990
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Juntendo University School of Medicine

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 Other

All Journal Article Presentation Book Patent

  • [Book] あたらしい眼科2019

    • Author(s)
      堀田喜裕、細野克博、倉田健太郎
    • Total Pages
      9
    • Publisher
      メディカル葵出版
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Book] 今日の眼疾患治療指針 中心性輪紋状脈絡膜ジストロフィ2016

    • Author(s)
      堀田喜裕
    • Total Pages
      2
    • Publisher
      医学書院
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Book] 網膜変性疾患診療のすべて 脳回状脈絡膜萎縮2016

    • Author(s)
      堀田喜裕
    • Total Pages
      5
    • Publisher
      医学書院
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Book] 今日の眼疾患治療指針 遺伝子診断2016

    • Author(s)
      堀田喜裕
    • Total Pages
      4
    • Publisher
      医学書院
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Book] RETINA Medicine ゲノムと網膜関連疾患の関与を探る 網膜色素変性2014

    • Author(s)
      堀田喜裕、細野克博
    • Total Pages
      94
    • Publisher
      先端医学社
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Book] 眼科臨時増刊号:眼科診療指針のパラダイムシフト2014

    • Author(s)
      堀田喜裕
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Book] RETINA Medicine ゲノムと網膜関連疾患の関与を探る 網膜色素変性2014

    • Author(s)
      堀田喜裕、細野克博
    • Total Pages
      94
    • Publisher
      先端医学社
    • Data Source
      KAKENHI-PROJECT-25861626
  • [Book] 眼科 眼と遺伝 2.網膜色素変性2014

    • Author(s)
      細野克博、堀田喜裕
    • Total Pages
      112
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-25861626
  • [Book] TEXT 眼科学 第5章各種眼疾患とその治療 19.眼科における遺伝病2012

    • Author(s)
      堀田喜裕
    • Total Pages
      7
    • Publisher
      南山堂
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Book] 現代の眼科学 吉田晃敏、谷原秀信編 眼の分子遺伝学2011

    • Author(s)
      堀田喜裕
    • Total Pages
      2
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Book] 専門医のための眼科診療クオリファイ 5 村田敏規編 遺伝性眼疾患の遺伝形式2011

    • Author(s)
      堀田喜裕
    • Total Pages
      9
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Book] 眼科学<II> 大鹿哲郎編 遺伝学2011

    • Author(s)
      堀田喜裕
    • Total Pages
      6
    • Publisher
      文光堂
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Book] 眼科学<II> 大鹿哲郎編 遺伝学2011

    • Author(s)
      並木文子、堀田喜裕
    • Total Pages
      3
    • Publisher
      文光堂
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Book] 網膜色素変性とUsher症候群の遺伝子診断2011

    • Author(s)
      堀田喜裕、中西啓
    • Publisher
      メディカル葵出版
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.2023

    • Author(s)
      Morikawa H, Nishina S, Torii K, Hosono K, Yokoi T, Shigeyasu C, Yamada M, Kosuga M, Fukami M, Saitsu H, Azuma N, Hori Y, Hotta Y.
    • Journal Title

      Hum Genome Var

      Volume: 10 Issue: 1 Pages: 9-9

    • DOI

      10.1038/s41439-023-00239-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K19606, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20H03845
  • [Journal Article] The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.2023

    • Author(s)
      Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y.
    • Journal Title

      Int J Mol Sci

      Volume: 24 Issue: 18 Pages: 13678-13678

    • DOI

      10.3390/ijms241813678

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K19606, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-23K09041, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-20H03845, KAKENHI-PROJECT-23K27566
  • [Journal Article] De novo heterozygous variants in <i>KIF5B</i> cause kyphomelic dysplasia2022

    • Author(s)
      Itai Toshiyuki、Wang Zheng、Nishimura Gen、Ohashi Hirofumi、Guo Long、Wakano Yasuhiro、Sugiura Takahiro、Hayakawa Hiromi、Okada Mayumi、Saisu Takashi、Kitta Ayana、Doi Hiroshi、Kurosawa Kenji、Hotta Yoshihiro、Hosono Katsuhiro、Sato Miho、他
    • Journal Title

      Clinical Genetics

      Volume: 102 Issue: 1 Pages: 3-11

    • DOI

      10.1111/cge.14133

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
  • [Journal Article] Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing2022

    • Author(s)
      Sano Yusuke、Koyanagi Yoshito、Wong Jing Hao、Murakami Yusuke、Fujiwara Kohta、Endo Mikiko、Aoi Tomomi、Hashimoto Kazuki、Nakazawa Toru、Wada Yuko、Ueno Shinji、Gao Dan、Murakami Akira、Hotta Yoshihiro、Ikeda Yasuhiro、Nishiguchi Koji M、Momozawa Yukihide、Sonoda Koh-Hei、Akiyama Masato、Fujimoto Akihiro
    • Journal Title

      Journal of Medical Genetics

      Volume: 59 Issue: 11 Pages: 1133-1138

    • DOI

      10.1136/jmedgenet-2022-108428

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09825
  • [Journal Article] Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa2022

    • Author(s)
      Tachibana Nobutaka、Hosono Katsuhiro、Nomura Shuhei、Arai Shinji、Torii Kaoruko、Kurata Kentaro、Sato Miho、Shimakawa Shuichi、Azuma Noriyuki、Ogata Tsutomu、Wada Yoshinao、Okamoto Nobuhiko、Saitsu Hirotomo、Nishina Sachiko、Hotta Yoshihiro
    • Journal Title

      Genes

      Volume: 13 Issue: 2 Pages: 359-359

    • DOI

      10.3390/genes13020359

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K10004, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03810, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-20H03845, KAKENHI-PROJECT-22K19606
  • [Journal Article] A case of siblings with juvenile retinitis pigmentosa associated with <i>NEK1</i> gene variants2022

    • Author(s)
      Hikoya Akiko、Hosono Katsuhiro、Ono Kaoru、Arai Shinji、Tachibana Nobutaka、Kurata Kentaro、Torii Kaoruko、Sato Miho、Saitsu Hirotomo、Ogata Tsutomu、Hotta Yoshihiro
    • Journal Title

      Ophthalmic Genetics

      Volume: - Issue: 5 Pages: 1-6

    • DOI

      10.1080/13816810.2022.2141788

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20H00539
  • [Journal Article] Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing2022

    • Author(s)
      Suga Akiko、Yoshitake Kazutoshi、Fukuchi Takeo、Hatase Tetsuhisa、Horiguchi Masayuki、Shimada Yoshiaki、Tanikawa Atsuhiro、Yamamoto Shuichi、Miura Gen、Ito Nana、Murakami Akira、Fujimaki Takuro、Hotta Yoshihiro、Tanaka Koji、Iwata Takeshi、他
    • Journal Title

      Human Mutation

      Volume: 43 Issue: 12 Pages: 2251-2264

    • DOI

      10.1002/humu.24492

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-22K09764, KAKENHI-PROJECT-22K09788, KAKENHI-PROJECT-22K09825, KAKENHI-PROJECT-18K09432, KAKENHI-PROJECT-20K09818
  • [Journal Article] Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN2021

    • Author(s)
      Mizobuchi Kei、Hayashi Takaaki、Oishi Noriko、Kubota Daiki、Kameya Shuhei、Higasa Koichiro、Futami Takuma、Kondo Hiroyuki、Hosono Katsuhiro、Kurata Kentaro、Hotta Yoshihiro、Yoshitake Kazutoshi、Iwata Takeshi、Matsuura Tomokazu、Nakano Tadashi
    • Journal Title

      Journal of Clinical Medicine

      Volume: 10 Issue: 11 Pages: 2265-2265

    • DOI

      10.3390/jcm10112265

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-23K21722
  • [Journal Article] Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in <i>KIF11</i> Gene2021

    • Author(s)
      Kondo Hiroyuki、Matsushita Itsuka、Nagata Tatsuo、Fujihara Etsuko、Hosono Katsuhiro、Uchio Eiichi、Hotta Yoshihiro、Kusaka Shunji
    • Journal Title

      Translational Vision Science &amp; Technology

      Volume: 10 Issue: 7 Pages: 18-18

    • DOI

      10.1167/tvst.10.7.18

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09818, KAKENHI-PROJECT-20K09825
  • [Journal Article] Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome2021

    • Author(s)
      Nishina Sachiko、Hosono Katsuhiro、Ishitani Shizuka、Kosaki Kenjiro、Yokoi Tadashi、Yoshida Tomoyo、Tomita Kaoru、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu、Ishitani Tohru、Hotta Yoshihiro、Azuma Noriyuki
    • Journal Title

      Journal of Human Genetics

      Volume: - Issue: 10 Pages: 1021-1027

    • DOI

      10.1038/s10038-021-00909-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20K21502, KAKENHI-PROJECT-19H03412, KAKENHI-PROJECT-19K10004, KAKENHI-PUBLICLY-20H05365, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03810, KAKENHI-PLANNED-21H05287
  • [Journal Article] Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.2019

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH.
    • Journal Title

      Jounal of Medical Genetics

      Volume: 56 Issue: 10 Pages: 662-670

    • DOI

      10.1136/jmedgenet-2018-105691

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-17K11447
  • [Journal Article] Phenotypic features of Oguchi disease and retinitis pigmentosa in patients with SAG mutations. A long-term follow-up study2019

    • Author(s)
      Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda K-H, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    • Journal Title

      Ophthalmology

      Volume: 126 Issue: 11 Pages: 1557-1565

    • DOI

      10.1016/j.ophtha.2019.05.027

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09926, KAKENHI-PROJECT-17K11447
  • [Journal Article] 診断にRETevalが有用であった発達障害を伴うLeber先天盲の一例2019

    • Author(s)
      瀧伶、鈴木寛子、倉田健太郎、古森美和、細野克博、彦谷明子、佐藤美保、堀田喜裕
    • Journal Title

      眼臨紀

      Volume: 12(1) Pages: 49-53

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Journal Article] 【知っておきたい稀な網膜・硝子体ジストロフィ】白点状眼底2019

    • Author(s)
      彦谷明子,堀田喜裕
    • Journal Title

      OCULISTA

      Volume: 75 Pages: 38-43

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations2019

    • Author(s)
      Miyamichi Daisuke、Nishina Sachiko、Hosono Katsuhiro、Yokoi Tadashi、Kurata Kentaro、Sato Miho、Hotta Yoshihiro、Azuma Noriyuki
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 1-1

    • DOI

      10.1038/s41439-019-0064-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K10004, KAKENHI-PROJECT-17K11447
  • [Journal Article] 特集 第72回日本臨床眼科学会講演集[1] 原著 RDH12遺伝子変異による網膜色素変性症の1例2019

    • Author(s)
      武田 優, 倉田 健太郎, 細野 克博, 堀田 喜裕
    • Journal Title

      臨床眼科

      Volume: 73 Issue: 3 Pages: 307-314

    • DOI

      10.11477/mf.1410213074

    • ISSN
      0370-5579, 1882-1308
    • Year and Date
      2019-03-15
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Journal Article] (亜)急性後天共同性内斜視に対する全国調査2019

    • Author(s)
      飯森宏仁,佐藤美保,鈴木寛子,彦谷明子,堀田喜裕,吉田朋世,仁科幸子,東範行
    • Journal Title

      眼科臨床紀要

      Volume: 13(1) Pages: 42-47

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.2019

    • Author(s)
      Haque MN, Kurata K, Hosono K, Ohtsubo M, Ohishi K, Sato M, Minoshima S, Hotta Y
    • Journal Title

      Hum Genome Var

      Volume: 6:18 Issue: 1

    • DOI

      10.1038/s41439-019-0048-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Journal Article] 診断にRETevalが有用であった発達障害を伴うLeber先天盲の一例2019

    • Author(s)
      瀧伶、鈴木寛子、倉田健太郎、古森美和、細野克博、彦谷明子、佐藤美保、堀田喜裕
    • Journal Title

      眼臨紀

      Volume: 12(1) Pages: 49-53

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] 診断にRETevalが有用であった発達障害を伴うLeber先天盲の一例2019

    • Author(s)
      瀧伶、鈴木寛子、倉田健太郎、古森美和、細野克博、彦谷明子、佐藤美保、堀田喜裕
    • Journal Title

      眼臨紀

      Volume: 12(1) Pages: 49-53

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Journal Article] Prism adaptation test施行の有無による間欠性外斜視の術後成績2019

    • Author(s)
      新井慎司,稲垣理佐子,高木優里,長谷岡宗,鈴木寛子,古森美和,彦谷明子,堀田 喜裕,佐藤美保
    • Journal Title

      眼科臨床紀要

      Volume: 12(4) Pages: 318-322

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] 外斜視に対するPlicationとResectionの術後成績の比較2019

    • Author(s)
      新井慎司,高木優里,長谷岡宗,稲垣理佐子,秋山菜穂子,飯森宏仁,鈴木寛子,古森美和,彦谷明子,柳田和夫,堀田喜裕,佐藤美保
    • Journal Title

      眼科臨床紀要

      Volume: 13(2) Pages: 111-115

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers2019

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hayashi Takaaki、Mizobuchi Kei、Katagiri Satoshi、Miyamichi Daisuke、Nishina Sachiko、Sato Miho、Azuma Noriyuki、Nakano Tadashi、Hotta Yoshihiro
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 20 Issue: 6 Pages: 1518-1518

    • DOI

      10.3390/ijms20061518

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-19K10004, KAKENHI-PROJECT-15H04998, KAKENHI-PROJECT-19H03810, KAKENHI-PROJECT-17K11434
  • [Journal Article] 前眼部OCTで内直筋断裂と診断した1例2019

    • Author(s)
      鈴木寛子,彦谷明子,飯森宏仁,新井慎司,高木優里,長谷岡宗,稲垣理佐子,梅田千賀子,堀田喜裕,佐藤美保
    • Journal Title

      眼科臨床紀要

      Volume: 13(1) Pages: 23-27

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.2018

    • Author(s)
      Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T.
    • Journal Title

      Sci Rep

      Volume: 8 Issue: 1 Pages: 11507-11507

    • DOI

      10.1038/s41598-018-29891-9

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K08627, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K19721, KAKENHI-PROJECT-16H02515, KAKENHI-PROJECT-18H02954, KAKENHI-PROJECT-17F17418, KAKENHI-PROJECT-16K07437, KAKENHI-PROJECT-16K11284
  • [Journal Article] 視神経低形成に占めるSepto-optic dysplasiaの割合2018

    • Author(s)
      磯貝正智、古森美和、彦谷明子、鈴木寛子、王瑜、堀田喜裕、佐藤美保
    • Journal Title

      眼臨紀

      Volume: 11(5) Pages: 391-394

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] Long-term clinical course of two Japanese patients with PRPF31-related retinitis pigmentosa2018

    • Author(s)
      10.1007/s10384-017-0560-7
    • Journal Title

      Jpn. J. Ophthalmol .

      Volume: 62(2) Issue: 2 Pages: 186-193

    • DOI

      10.1007/s10384-017-0560-7

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-17K11447
  • [Journal Article] Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants2018

    • Author(s)
      Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y
    • Journal Title

      Molecular Vision

      Volume: 24 Pages: 286-296

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Journal Article] Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants2018

    • Author(s)
      Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y
    • Journal Title

      Molecular Vision

      Volume: 24 Pages: 286-296

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Journal Article] Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono Katsuhiro、Nishina Sachiko、Yokoi Tadashi、Katagiri Satoshi、Saitsu Hirotomo、Kurata Kentaro、Miyamichi Daisuke、Hikoya Akiko、Mizobuchi Kei、Nakano Tadashi、Minoshima Shinsei、Fukami Maki、Kondo Hiroyuki、Sato Miho、Hayashi Takaaki、Azuma Noriyuki、Hotta Yoshihiro
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 8279-8279

    • DOI

      10.1038/s41598-018-26524-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11441, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-16K11309
  • [Journal Article] Changes in conjunctival-scleral thickness after strabismus surgery measured with anterior segment optical coherence tomography.2018

    • Author(s)
      Suzuki H, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta Y, Sato M
    • Journal Title

      Jpn J Ophthalmol

      Volume: 5 Issue: 5 Pages: 554-559

    • DOI

      10.1007/s10384-018-0609-2

    • NAID

      40021664631

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K11264, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-18K16952
  • [Journal Article] Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa2018

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hotta Yoshihiro
    • Journal Title

      Documenta Ophthalmologica

      Volume: 137 Issue: 1 Pages: 47-56

    • DOI

      10.1007/s10633-018-9649-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-16K11284
  • [Journal Article] 上斜筋麻痺に対する僚眼下直筋後転術が上下偏位に与える効果の検討2018

    • Author(s)
      古森美和、鈴木寛子、彦谷明子、堀田喜裕、佐藤美保
    • Journal Title

      日眼会誌

      Volume: 123(1) Pages: 45-50

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Journal Article] Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations2018

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hikoya Akiko、Kato Akihiko、Saitsu Hirotomo、Minoshima Shinsei、Ogata Tsutomu、Hotta Yoshihiro
    • Journal Title

      Japanese Journal of Ophthalmology

      Volume: 62 Issue: 4 Pages: 458-466

    • DOI

      10.1007/s10384-018-0591-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-16K11284
  • [Journal Article] 前眼部OCTを用いた水平直筋附着部測定についての検討2017

    • Author(s)
      長谷岡宗・新井慎司・鷲山愛・稲垣理佐子・鈴木寛子・古森美和・彦谷明子・堀田喜裕・佐藤美保
    • Journal Title

      眼科臨床紀要

      Volume: 10(2) Pages: 129-133

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Journal Article] Long-term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness2017

    • Author(s)
      Kurata K, Hosono K and Hotta Y.
    • Journal Title

      Case Rep. Ophthalmol.

      Volume: 8(1) Issue: 1 Pages: 237-244

    • DOI

      10.1159/000462961

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-17K11447
  • [Journal Article] ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISC REGION2017

    • Author(s)
      Yokoi T, Katagiri S, Hiraoka M, Nakayama Y, Hosono K, Hotta Y, Nishina S, Azuma N
    • Journal Title

      RETINA

      Volume: 印刷中 Issue: 8 Pages: 1-1

    • DOI

      10.1097/iae.0000000000001779

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-16K11309, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-15H02566, KAKENHI-PROJECT-17K16996
  • [Journal Article] Retinitis pigmentosa in Japanese population2017

    • Author(s)
      Hosono K, Minoshima S, Hotta Y
    • Journal Title

      Essentials in Ophthalmology Advances in Vision Research

      Volume: volume I Pages: 111-128

    • DOI

      10.1007/978-4-431-56511-6_11

    • ISBN
      9784431565093, 9784431565116
    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-17K11447
  • [Journal Article] Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations2017

    • Author(s)
      Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta K, Minoshima S and Hotta Y
    • Journal Title

      Semin. Ophthalmol.

      Volume: 印刷中 Issue: 4 Pages: 560-565

    • DOI

      10.1080/08820538.2017.1340487

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479
  • [Journal Article] Plasma exchange therapy was apparently effective in a case of idiopathic bilateral retrobulbar neuritis2016

    • Author(s)
      永田祐衣、古森美和、立花信貴、澤田麻友、毛塚剛司、田中惠子、堀田喜裕
    • Journal Title

      臨床眼科

      Volume: 70 Issue: 7 Pages: 1151-1157

    • DOI

      10.11477/mf.1410211891

    • ISSN
      0370-5579, 1882-1308
    • Year and Date
      2016-07-15
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K20253
  • [Journal Article] Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.2016

    • Author(s)
      Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, Miyake Y, Hotta Y, Minoshima S.
    • Journal Title

      Hum Genome Var.

      Volume: 3 Issue: 1 Pages: 16011-16011

    • DOI

      10.1038/hgv.2016.11

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15H04994, KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-16K11284
  • [Journal Article] Genotype-phenotype correlation of the PAX6 gene mutations in aniridia2016

    • Author(s)
      Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N.
    • Journal Title

      Human Genome Variation

      Volume: 3 Issue: 1 Pages: 15052-15052

    • DOI

      10.1038/hgv.2015.52

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-15H02566, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25462767, KAKENHI-PROJECT-15K15640, KAKENHI-PROJECT-16K11309
  • [Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.2016

    • Author(s)
      *Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 61(9) Issue: 9 Pages: 839-842

    • DOI

      10.1038/jhg.2016.56

    • NAID

      40020938230

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-16K11264, KAKENHI-PROJECT-16K11284
  • [Journal Article] Evaluation of Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction Test2016

    • Author(s)
      Komori M, Suzuki H, Hikoya A, Sawada M, Hotta Y, Sato M.
    • Journal Title

      PLoS One

      Volume: 11(12) Issue: 12 Pages: e0168245-e0168245

    • DOI

      10.1371/journal.pone.0168245

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-16K11264
  • [Journal Article] Novel GUCY2D gene mutations in Japanese male twins with Leber congenital amaurosis2015

    • Author(s)
      Hosono K, Harada Y, Kurata K, Hikoya A, Sato M, Minoshima S, Hotta Y.
    • Journal Title

      J. Ophthalmol.

      Volume: 693468 Pages: 1-10

    • DOI

      10.1155/2015/693468

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene2014

    • Author(s)
      Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y
    • Journal Title

      Ophthalmic Genet

      Volume: 35 Pages: 25-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology.2014

    • Author(s)
      Gao J, Ohtsubo M*, Hotta Y, Minoshima S. (*Corresponding Author)
    • Journal Title

      PlosOne

      Volume: 9(7) Issue: 7 Pages: e101206-e101206

    • DOI

      10.1371/journal.pone.0101206

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24592622, KAKENHI-PROJECT-26462659
  • [Journal Article] Interaction between optineurin and the bZIP transcription factor NRL2014

    • Author(s)
      Wang C, Hosono K, Ohtsubo M, Ohishi K, Gao J, Nakanishi N, Hikoya A, Sato M, Hotta Y, Minoshima S.
    • Journal Title

      Cell Biol. Int.

      Volume: 38(1) Issue: 1 Pages: 16-25

    • DOI

      10.1002/cbin.10174

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-24592622, KAKENHI-PROJECT-25462708, KAKENHI-PROJECT-25861626
  • [Journal Article] The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.2014

    • Author(s)
      Yang Zhao, Katsuhiro Hosono, Kimiko Suto, Chie Ishigami, Yuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, Yoshihiro Hotta.
    • Journal Title

      J Hum Genet.

      Volume: 59 Issue: 9 Pages: 521-528

    • DOI

      10.1038/jhg.2014.65

    • NAID

      40020198536

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25861626, KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-26462683
  • [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene2014

    • Author(s)
      Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y.
    • Journal Title

      Ophthalmic Genet.

      Volume: 35(1) Issue: 1 Pages: 25-34

    • DOI

      10.3109/13816810.2013.768673

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592603, KAKENHI-PROJECT-25861626
  • [Journal Article] I 網膜硝子体 15.網膜遺伝病診療2014

    • Author(s)
      堀田喜裕
    • Journal Title

      眼科 診療指針のパラダイムシフト

      Volume: 56(2) Pages: 209-215

    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene.2013

    • Author(s)
      Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y.
    • Journal Title

      Ophthalmic Genetics

      Volume: early on line Pages: 1-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Genetic diagnosis from buccal mucousmembrane in cases of chronic progress ophthalmoplegia2012

    • Author(s)
      Kaoruko Torii, Takashi Negishi, Katsuhiro Hosono, Mayu Sawada, Akiko Hikoya, Miho Sato, Yoshihiro Hotta
    • Journal Title

      Jpn.J.Clin.Ophthalmol

      Volume: 66(10) Pages: 1497-1502

    • Data Source
      KAKENHI-PROJECT-23791975
  • [Journal Article] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population2012

    • Author(s)
      Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Fujita T, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y et al
    • Journal Title

      PLoS One

      Volume: 7(2):e31036 Pages: 1-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population.2012

    • Author(s)
      Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima M, Hotta Y.
    • Journal Title

      PLoS One

      Volume: 7(2) Issue: 2 Pages: e31036-e31036

    • DOI

      10.1371/journal.pone.0031036

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390327, KAKENHI-PROJECT-22591975, KAKENHI-PROJECT-23390401, KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-23592603, KAKENHI-PROJECT-23791975, KAKENHI-PROJECT-24659770
  • [Journal Article] Genetic diagnosis from buccal mucous membrane in cases of chronic progress ophthalmoplegia2012

    • Author(s)
      Torii K, Negishi T, Hosono K, Sawada M, Hikoya A, Sato M, Hotta Y
    • Journal Title

      Japanese Journal of Clinical Ophthalmology

      Volume: 66(19) Pages: 32-34

    • NAID

      40019462659

    • Data Source
      KAKENHI-PROJECT-23791975
  • [Journal Article] 眼白子が疑われた姉妹例2012

    • Author(s)
      野村隆仁、佐藤美保、細野克博、彦谷明子、根岸貴志、澤田麻友、堀田喜裕
    • Journal Title

      臨床眼科紀要

      Volume: 5(4) Pages: 367-372

    • Data Source
      KAKENHI-PROJECT-23791975
  • [Journal Article] 眼白子が疑われた姉妹例2012

    • Author(s)
      野村隆仁、佐藤美保、細野克博、彦谷明子、根岸貴志、澤田麻友、堀田喜裕
    • Journal Title

      眼臨紀

      Volume: 5(4) Pages: 367-372

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Journal Article] 4. Genetic diagnosis from buccal mucous membrane in cases of chronic progress ophthalmoplegia2012

    • Author(s)
      Torii K, Negishi T, Hosono K, Sawada M, Hikoya A, Sato M, Hotta Y.
    • Journal Title

      Jpn.J.Clin.Ophthalmol

      Volume: 66(10) Pages: 1497-1502

    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] 眼白子が疑われた姉妹例2012

    • Author(s)
      野村隆仁、佐藤美保、細野克博、彦谷明子、根岸貴志、澤田麻友、堀田喜裕
    • Journal Title

      眼臨紀

      Volume: 5(4) Pages: 367-372

    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] Clinical features of a Japanese case with Bothnia dystrophy2012

    • Author(s)
      Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M. Kondo M, Minoshima S, Hotta Y
    • Journal Title

      Ophthalmic Genet

      Volume: 33(2) Issue: 2 Pages: 83-88

    • DOI

      10.3109/13816810.2011.634877

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-23592603, KAKENHI-PROJECT-23791975
  • [Journal Article] 浜松医大における視覚障害をもつ乳幼児に対する早期療育相談2011

    • Author(s)
      稲垣理佐子、青島明子、藤田由美子、鷲山愛、浅野麻衣、根岸貴志、佐藤美保、堀田喜裕
    • Journal Title

      眼科臨床紀要

      Volume: 4(10) Pages: 945-947

    • NAID

      10031162610

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] A case of aniridia with unilateral Peters anomaly2011

    • Author(s)
      Sawada M, Sato M, Hikoya A, Wang C-X, Minoshima S, Azuma N, Hotta Y
    • Journal Title

      J AAPOS

      Volume: 15(1) Issue: 1 Pages: 104-106

    • DOI

      10.1016/j.jaapos.2010.11.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients : marked differences in the mutation spectrum between the Japanese and other populations2011

    • Author(s)
      中西啓
    • Journal Title

      Journal of Human Genetics

      Volume: 56 Issue: 7 Pages: 484-490

    • DOI

      10.1038/jhg.2011.45

    • NAID

      10030659974

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22791589, KAKENHI-PROJECT-23592561
  • [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations2011

    • Author(s)
      Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S
    • Journal Title

      J Hum Genet

      Volume: 56(7) Pages: 484-490

    • NAID

      10030659974

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.2009

    • Author(s)
      Nakanishi, H., Ohtsubo, M., Iwasaki, S., Hotta, Y., Mizuta, K., Mineta, H., Minoshima, S.
    • Journal Title

      Clin. Genet. 76(4)

      Pages: 383-91

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] 分子遺伝学的検査により確定診断し得たBest病の一例2008

    • Author(s)
      王春霞、小出健郎、細野克博、中西伸夫、蓑島伸生、堀田喜裕
    • Journal Title

      臨床眼科 62(9)

      Pages: 1563-1567

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.2008

    • Author(s)
      Wang, C., Nakanishi, N., Hikoya, A., Koide, K., Ohishi, K., Sato, M., Nakamura, M., Hotta, Y., Minoshima, S.
    • Journal Title

      Ophthalmic Genet 29(1)

      Pages: 29-32

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Three novel mutations of PAX6 gene in Japanese aniridia patients.2007

    • Author(s)
      Kawano, T., Wang, C., Hotta, Y., Sato, M., Iwata-Amano, E., Hikoya, A., Fujita, N., Koyama, N., Shirai, S., Azuma, N., Ohtsubo, M., Shimizu, N., Minoshima, S.
    • Journal Title

      J. Hum. Genet. 52(7)

      Pages: 571-574

    • NAID

      40015454165

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Ascorbic acid concentration in rabbit vitreous measured by microdialysis with HPLC-electrochemical detection before and after vitreous surgery.2006

    • Author(s)
      Koide, K., Zhang, X.M., Ohishi, K., Usami, Y., Hotta, Y., Hiramitsu, T.
    • Journal Title

      Exp. Eye Res. 82(5)

      Pages: 868-73

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Oligomerization of Optineurin and Its Oxidative Stress- or E50K Mutation-Driven Covalent Cross-Linking : Possible Relationship with Glaucoma Pathology

    • Author(s)
      Gao J, Ohtsubo M, Hotta Y, Minoshima S
    • Journal Title

      PLoS ONE

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Patent] EYS遺伝子の変異を検出するためのプライマー、プローブ、マイクロアレイ、及び、これらを備える検出キット、並びに網膜色素変性症原因遺伝子変異の検査方法、網膜色素 変性症への遺伝的感受性の検査方法2010

    • Inventor(s)
      細野克博、堀田喜裕
    • Industrial Property Rights Holder
      浜松医科大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2010-294236
    • Filing Date
      2010-12-28
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Patent] 遺伝子の変異を検出するためのプライマー、プローブ、マイクロアレイ、及び、これらを備える検出キット、並びに、網膜色素変性症原因遺伝子変異の検査方法、網膜色素変性症への遺伝的感受性の検査方法2010

    • Inventor(s)
      細野 克博、堀田 喜裕
    • Industrial Property Rights Holder
      国立大学法人浜松医科大学
    • Industrial Property Number
      2010-294236
    • Filing Date
      2010-12-28
    • Overseas
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] ゲノム医療をめざして~眼遺伝学の研究と臨床~2024

    • Author(s)
      堀田喜裕
    • Organizer
      第446回東海眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20K09825
  • [Presentation] レーバー先天盲および早期発症網膜ジストロフィに対する全ゲノム解析2023

    • Author(s)
      鳥居薫子、仁科幸子、森川葉月、横井匡、立花信貴、溝渕圭、宮本祥子、近藤寛之、林孝彰、東範行、才津浩智、堀田喜裕
    • Organizer
      第127回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-23K09041
  • [Presentation] 網膜ジストロフィーの遺伝学的検査2023

    • Author(s)
      堀田喜裕
    • Organizer
      京都大学臨床眼科討論
    • Invited
    • Data Source
      KAKENHI-PROJECT-20K09825
  • [Presentation] The structural abnormalities of RPGRIP1 are deeply involved in the cause of Leber congenital amaurosis in Japanese patients.2023

    • Author(s)
      Hotta Yoshihiro
    • Organizer
      The 20th Kyungpook-Hamamatsu Joint Medical Symposium
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K09825
  • [Presentation] Clinical phenotype of japanese infants with CEP290-associated leber congenital amaurosis2023

    • Author(s)
      Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Masakazu Takayama, Katsuhiro Hosono, Tomoka Kanbe, Hirotomo Saitsu, Maki Fukami, Yuichi Hori, Yoshihiro Hotta
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K09041
  • [Presentation] RPGRIP1遺伝子変異によるレーバー先天盲の臨床像2023

    • Author(s)
      森川葉月、仁科幸子、林孝彰、鳥居薫子、細野克博、佐藤美保、横井匡、深見真紀、才津浩智、東範行、堀田喜裕
    • Organizer
      第127回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-23K09041
  • [Presentation] ゲノム医療をめざして~眼遺伝学の研究と臨床~2022

    • Author(s)
      堀田喜裕
    • Organizer
      第126回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-20K09825
  • [Presentation] 網膜ジストロフィーを発症した多発奇形症候群の1例2020

    • Author(s)
      仁科幸子、細野克博、横井匡、吉田朋世、富田香、深見真紀、小崎健次郎、堀田喜裕、東範行
    • Organizer
      第45回日本小児眼科学会
    • Data Source
      KAKENHI-PROJECT-20K09825
  • [Presentation] plication術後の外直筋の病理所見を得た一例2020

    • Author(s)
      久津間朋子、鈴木寛子、飯森宏仁、古森美和、彦谷明子、堀田喜裕、佐藤美保、
    • Organizer
      第74回静岡県眼科医会集談会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] Spot Vision Screenerによる小児白内障の判定と臨床所見の関係2020

    • Author(s)
      高木優里、新井慎司、長谷岡宗、稲垣理佐子、鈴木寛子、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第8回小児診療多職種研究会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 外斜視に対するPlicationとResectionの術後成績の比較2019

    • Author(s)
      新井慎司、稲垣理佐子、秋山菜穂子、鈴木寛子、彦谷明子、柳田和夫、堀田喜裕、佐藤美保
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] Spot Vision Sreenerによる小児白内障の判定と臨床所見の関係2019

    • Author(s)
      高木優里、新井慎司、長谷岡宗、稲垣理佐子、鈴木寛子、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 浜松医科大学を受診した網膜芽細胞腫2例の遺伝子検査2019

    • Author(s)
      山﨑智幸、細野克博、坂口公祥、小松和幸、川上領太、清水大輔、彦谷明子、倉田健太郎、才津浩智、蓑島伸生、佐藤美保、緒方勤、堀田喜裕
    • Organizer
      第73回静岡県眼科医会集談会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] Chronic progressive external ophthalmoplegia associated with proptosis: A report of two cases.2019

    • Author(s)
      Takeda Y, Suzuki H, Iimori H, Hosono K, Hikoya A, Sato M, Hotta Y
    • Organizer
      AAPOS/RANZO/APSPOS 2019 Joing
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 遺伝性網膜疾患の診療2019

    • Author(s)
      堀田喜裕
    • Organizer
      Novartis Pharma Web Symposium
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] SpotTM Vision Screenerで異常が検出されなかった小児白内障の1例2019

    • Author(s)
      新井慎司、高木優里、長谷岡宗、稲垣理佐子、飯森宏仁、鈴木寛子、古森美和、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第60回日本視能矯正学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 不均衡型転座により6p25モノソミーと18p11トリソミーをもつ続発小児緑内障の1例2019

    • Author(s)
      細野克博、川瀬和秀、倉田健太郎、新美裕介、才津浩智、蓑島伸生、大西秀典、山本崇裕、彦谷明子、立花信貴、深尾敏幸、山本哲也、堀田喜裕
    • Organizer
      第40回東海緑内障の会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] X連鎖性網膜色素変性キャリアーの視機能2019

    • Author(s)
      堀田喜裕
    • Organizer
      第21回Japan Macula Club
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 眼球突出を主訴に受診し慢性進行性外眼筋麻痺と診断された2症例2019

    • Author(s)
      武田優、鈴木寛子、飯森宏仁、細野克博、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 随意眼振の一例2019

    • Author(s)
      大石彩乃、古森美和、飯森宏仁、高木優里、長谷岡宗、稲垣理佐子、鈴木寛子、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 遺伝子診断による治療って可能なの?2019

    • Author(s)
      堀田喜裕
    • Organizer
      JRPSの会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Fine analysis of IKBKG in a Japanese boy and 3 girls with incontinentia pigmenti2019

    • Author(s)
      ハック ムハンマド ナズムール、大坪正史、仁科幸子、中尾志郎、細野克博、倉田健太郎、大石健太郎、佐藤美保、堀田喜裕、蓑島伸生、東範行
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Fine analysis of IKBKG in a Japanese boy and 3 girls with incontinentia pigmenti.2019

    • Author(s)
      ハック・ナズムール、大坪正史、仁科幸子、中尾志郎、細野克博、倉田健太郎、大石健太郎、佐藤美保、堀田喜裕、蓑島伸生、東範行
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-18K09401
  • [Presentation] SAG変異を病院とする小口病と網膜色素変性の臨床表現型比較2019

    • Author(s)
      西口康二、池田康博、細野克博、和田裕子、園田康平、堀田喜裕、村上晶、中澤満、中澤徹、阿部俊明
    • Organizer
      第67回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] インストラクションコース「網膜硝子体ジストロフィの診療の実際」2019

    • Author(s)
      近藤寛之、近藤峰生、林孝彰、髙橋政代、堀田喜裕
    • Organizer
      第73回日本臨床眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] A case of pathological finding after plication.2019

    • Author(s)
      Kutsuma T, SuzukiH, Iimori H, Komori M, Hikoya A, Hotta Y, Sato M
    • Organizer
      AAPOS/RANZO/APSPOS 2019 Joing
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 前眼部OCTを用いた短縮術と折り畳み術後の結膜ー強膜厚の比較2019

    • Author(s)
      鈴木寛子、高木優里、新井慎司、長谷岡宗、稲垣理佐子、飯森宏仁、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 前眼部OCTで内直筋断裂と診断した1例2019

    • Author(s)
      鈴木寛子、彦谷明子、飯森宏仁、新井慎司、高木優里、梅田千賀子、堀田喜裕、佐藤美保
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 静岡エリアにおける小児・成人IRUD拠点病院の確立2019

    • Author(s)
      緒方勤、才津浩智、堀田喜裕
    • Organizer
      IRUD令和元年度班会議
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Molecular diagnosis of 34 Japanese families with Leber congenital amaurosis using targeted next generation sequencing2019

    • Author(s)
      細野克博、東範行、堀田喜裕
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 遺伝性網膜疾患の診療2019

    • Author(s)
      堀田喜裕
    • Organizer
      第54回京都眼科フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 日本人X連鎖性網膜色素変性症の遺伝型と臨床像の検討2019

    • Author(s)
      倉田健太郎、細野克博、溝渕圭、片桐聡、宮道大督、仁科幸子、東範行、中野匡、林孝彰、堀田喜裕
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] MR Resescction vs. Plication: Comparison of Conjunctival-Scleral thickness by AS-OCT.2019

    • Author(s)
      Suzuki H, Takagi Y, Arai S, Haseoka T, Inagaki R, Hikoya A, Hotta Y, Sato M
    • Organizer
      AAPOS/RANZO/APSPOS 2019 Joing
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 浜松医科大学を受診した網膜芽細胞腫2例の遺伝子検査2019

    • Author(s)
      山﨑智幸、細野克博、坂口公祥、小松和幸、川上領太、清水大輔、彦谷明子、倉田健太郎、才津浩智、蓑島伸生、佐藤美保、緒方勤、堀田喜裕
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] Clinical findings of acute acquired comitant esotropia in young patients.2019

    • Author(s)
      Iimori H, Suzuki H, KomoriM, Hikoya A, Hotta Y, Sato M
    • Organizer
      AAPOS/RANZO/APSPOS 2019 Joing
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation2019

    • Author(s)
      Hosono K, Kawase K, Kurata K, Niimi Y, Saitsu H, Minoshima S, Ohnishi H, Yamamoto T, Hikoya A, Tachibana N, Fukao T, Yamamoto T, Hotta Y
    • Organizer
      2019 Joint Meeting of the ISGRDR and DOG Genetics
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 網膜ジストロフィのクリニカルシークエンス2019

    • Author(s)
      堀田喜裕
    • Organizer
      第73回日本臨床眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Comparison of the health-related quality of life before and after surgery in children with intermittent exotropia and their parents in Japan.2019

    • Author(s)
      Hikoya A, Suzuki H, Iimori H, Komori M, Hotta Y, SatoM
    • Organizer
      AAPOS/RANZO/APSPOS 2019 Joing
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] ラット網膜光障害感受性遺伝子の同定と発現解析2019

    • Author(s)
      大石健太郎、大坪正史、青戸一司、尾花明、細野克博、上野真治、才津浩智、寺崎浩子、平光忠久、堀田喜裕、蓑島伸生
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-18K09401
  • [Presentation] SVSで異常が検出されなかった小児白内障の一例2019

    • Author(s)
      新井慎司、高木優里、長谷岡宗、稲垣理佐子、飯森宏仁、鈴木寛子、古森美和、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第439回東海眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] (亜)急性後天共同性内斜視に関する全国調査ーデジタルデバイスとの関連についてー2019

    • Author(s)
      飯森宏仁、佐藤美保、鈴木寛子、彦谷明子、堀田喜裕、吉田朋世、仁科幸子、東範行
    • Organizer
      第75回日本弱視斜視学会総会 第44回日本小児眼科学会合同学会総会 合同学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 遺伝子検査のメリットとデメリット2019

    • Author(s)
      堀田喜裕
    • Organizer
      第14回JRPS網脈絡変性フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Targeted resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2019

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
    • Organizer
      The 19th EURETINA Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] X連鎖性レーバー先天盲2症例の臨床像2019

    • Author(s)
      仁科幸子、細野克博、横井匡、倉田健太郎、吉田朋世、深見真紀、堀田喜裕、東範行
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] RPE65 変異により重度網膜視機能障害および斑点を認めた網膜ジストロフィ2018

    • Author(s)
      林孝彰、細野克博、片桐聡、倉田健太郎、溝渕圭、月花環、岩田岳、中野匡、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2018

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi K, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
    • Organizer
      The 11th Joint Meeting of Japan-China-Korea Ophthalmologists
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 遺伝子検査のメリットとデメリット2018

    • Author(s)
      堀田喜裕
    • Organizer
      JRPSとちぎ 第38回医療講演
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 日本人錐体桿体ジストロフィー家系から検出された新規変異と文献情報を併用した遺伝子型-表現型関連解析2018

    • Author(s)
      Nazmul Haque、大坪正史、細野克博、倉田健太郎、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第25回日本遺伝子診療学会大会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] FOXC1遺伝子を含む6p25領域に欠失が示唆された早発型発達緑内障の1例2018

    • Author(s)
      新美佑介、川瀬和秀、山本哲也、山本崇裕、倉田健太郎、立花信貴、細野克博、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] BBS10遺伝子変異によるBardet-Biedl syndromeの1例2018

    • Author(s)
      倉田健太郎、細野克博、彦谷明子、加藤明彦、才津浩智、蓑島伸生、緒方勤、堀田喜裕
    • Organizer
      第43回日本小児眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] RDH12遺伝子変異による網膜色素変性症の1例2018

    • Author(s)
      武田優、倉田健太郎、細野克博、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] GNAT1変異を認めた優性遺伝性先天停在性夜盲の1家系2018

    • Author(s)
      林 孝彰、細野 克博、片桐 聡、溝渕 圭、倉田 健太郎、中野 匡、堀田 喜裕
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 本邦における網膜色素変性1,204例の次世代シークエンスから得られた遺伝的特徴2018

    • Author(s)
      小栁俊人、秋山雅人、西口康二、桃沢幸秀、鎌谷洋一郎、高田定暁、稲井智栄、岩崎雄介、村上祐介、熊野美香子、面高宗子、阿部俊明、小森汐里、高丹、平形寿彬、倉田健太郎、細野克博、上野真治、堀田喜裕、村上晶、寺﨑浩子、和田裕子、中澤徹、池田康博、久保充明、園田康平
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Molecular Analysis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      日本人類遺伝学会第63回大会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] FOXC1遺伝子を含む6p25領域に欠失が示唆された早発型発達緑内障の1例2018

    • Author(s)
      新美佑介、川瀬和秀、山本哲也、山本崇裕、倉田健太郎、立花信貴、細野克博、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Mutation Analysis of Japanese Patients with Leber Congenital Amaurosis by Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Kurata K, Miyamichi D, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      ARVO2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 網膜ジストロフィの最近の話題2018

    • Author(s)
      堀田喜裕
    • Organizer
      順天堂大学眼科 合同症例検討会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] FOXC1遺伝子を含む6p25領域に欠失が示唆された早発型発達緑内障の1例2018

    • Author(s)
      新美佑介、川瀬和秀、山本哲也、山本崇裕、倉田健太郎、立花信貴、 細野克博、堀田喜裕
    • Organizer
      第122回日本眼科学会
    • Data Source
      KAKENHI-PROJECT-15K20253
  • [Presentation] RP1遺伝子変異による常染色体劣性網膜色素変性症の1例2018

    • Author(s)
      倉田健太郎,細野克博,堀田喜裕
    • Organizer
      第437回東海眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] ラット網膜光障害感受性系統差の原因遺伝子の同定:加齢黄斑変性の発症機序解明を目指して2018

    • Author(s)
      大石健太郎、大坪正史、青戸一司、尾花明、細野克博、才津浩智、平光忠久、堀田喜裕、蓑島伸生
    • Organizer
      第41回日本分子生物学会年会
    • Data Source
      KAKENHI-PROJECT-18K09401
  • [Presentation] 小児遺伝性網膜疾患の診療2018

    • Author(s)
      堀田喜裕
    • Organizer
      愛宕眼科フォーラム
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Molecular Analysis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      日本人類遺伝学会第63回大会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] 日本人錐体桿体ジストロフィー家系から検出された新規変異と文献情報を併用した遺伝子型-表現型関連解析2018

    • Author(s)
      Nazmul Haque、大坪正史、細野克博、倉田健太郎、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第25回日本遺伝子診療学会大会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 加齢黄斑変性の新規関連遺伝子の同定:光障害動物実験モデルの活用2018

    • Author(s)
      大石健太郎、大坪正史、細野克博、青戸一司、尾花明、上野真治、才津浩智、寺崎浩子、平光忠久、堀田喜裕、蓑島伸生
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-18K09401
  • [Presentation] CDHR1遺伝子に新規変異を認めた日本人錐体杆体ジストロフィー成人発症兄妹例2018

    • Author(s)
      Nazmul Haque、倉田健太郎、細野克博、大坪正史、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Long-term clinical course of Japanese patients with retinitis pigmenosa caused by mutations in pre-mRNA splicing gene2018

    • Author(s)
      Kurata K, Hosono K, Hotta Y
    • Organizer
      ARVO2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness2018

    • Author(s)
      Hideki Iida, Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
    • Organizer
      APAO
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Six cases with Leber congenital amaurosis associated with Coats-like vasculopathy2018

    • Author(s)
      Ogawa H, Nishina S, Yokoi T, Tanaka S, Nakao S, Yoshida T, Fukami M, Hosono K, Hotta Y, Azuma N
    • Organizer
      第57回日本網膜硝子体学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 日本人Leber先天盲の次世代シークエンサーによる遺伝子変異解析2018

    • Author(s)
      細野克博、仁科幸子、林孝彰、倉田健太郎、横井匡、片桐聡、宮道大督、溝渕圭、佐藤美保、蓑島伸生、深見真紀、中野匡、近藤寛之、東範行、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 次世代シークエンサーを用いた日本人Leber先天盲の遺伝子変異解析2018

    • Author(s)
      細野克博、東範行、堀田喜裕
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 次世代シークエンサーを用いた日本人Leber先天盲の遺伝子変異解析2018

    • Author(s)
      細野克博、東範行、堀田喜裕
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 日本人Leber先天盲の次世代シークエンサーによる遺伝子変異解析2018

    • Author(s)
      細野克博、仁科幸子、林孝彰、倉田健太郎、横井匡、片桐聡、宮道大督、溝渕圭、佐藤美保、蓑島伸生、深見真紀、中野匡、近藤寛之、東範行、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 網膜色素変性と類縁疾患の診療2018

    • Author(s)
      堀田喜裕
    • Organizer
      第38回眼科医療フォーラム
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Mutation Analysis of Japanese Patients with Leber Congenital Amaurosis by Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Kurata K, Miyamichi D, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      ARVO2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] GNAT1変異を認めた優性遺伝性先天停在性夜盲の1家系2018

    • Author(s)
      林 孝彰、細野 克博、片桐 聡、溝渕 圭、倉田 健太郎、中野 匡、堀田 喜裕
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness2018

    • Author(s)
      Hideki Iida, Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
    • Organizer
      APAO
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 網膜ジストロフィの診療2018

    • Author(s)
      堀田喜裕
    • Organizer
      第49回東海北陸地区ブロック講習会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] RDH12遺伝子変異による網膜色素変性症の1例2018

    • Author(s)
      武田優、倉田健太郎、細野克博、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2018

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi K, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
    • Organizer
      The 11th Joint Meeting of Japan-China-Korea Ophthalmologists
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] CDHR1遺伝子に新規変異を認めた日本人錐体杆体ジストロフィー成人発症兄妹例2018

    • Author(s)
      Nazmul Haque、倉田健太郎、細野克博、大坪正史、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 本邦における網膜色素変性1,204例の次世代シークエンスから得られた遺伝的特徴2018

    • Author(s)
      小栁俊人、秋山雅人、西口康二、桃沢幸秀、鎌谷洋一郎、高田定暁、稲井智栄、岩崎雄介、村上祐介、熊野美香子、面高宗子、阿部俊明、小森汐里、高丹、平形寿彬、倉田健太郎、細野克博、上野真治、堀田喜裕、村上晶、寺﨑浩子、和田裕子、中澤徹、池田康博、久保充明、園田康平
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Molecular Analysis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      日本人類遺伝学会第63回大会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] RP1遺伝子変異による常染色体劣性網膜色素変性症の1例2018

    • Author(s)
      倉田健太郎,細野克博,堀田喜裕
    • Organizer
      第437回東海眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] CACNA1F遺伝子変異を同定したレーバー先天盲の1例2018

    • Author(s)
      仁科幸子、細野克博、横井匡、吉田朋世、深見真紀、堀田喜裕、東範行
    • Organizer
      第57回日本網膜硝子体学会総会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 静岡エリアにおける小児・成人IRUD拠点病院の確立2018

    • Author(s)
      緒方勤、才津浩智、堀田喜裕
    • Organizer
      IRUD平成30年度 第二回班会議
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 遺伝性網脈絡膜変性疾患 -遺伝子検査、網膜検査への対応 インストラクションコース2018

    • Author(s)
      堀田喜裕、近藤寛之、近藤峰生、高橋政代、林孝彰
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] RDH12遺伝子変異による網膜色素変性症の1例2018

    • Author(s)
      武田優、倉田健太郎、細野克博、堀田喜裕
    • Organizer
      第71回静岡県眼科医会集談会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] レーバー先天盲の日本人患者に対する次世代シークエンサーを用いた遺伝子診断2017

    • Author(s)
      細野克博、仁科幸子、倉田健太郎、宮道大督、横井匡、蓑島伸生、深見真紀、佐藤美保、近藤寛之、堀田喜裕
    • Organizer
      第121回日本眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 次世代シークエンサーの登場により遺伝性網膜変性の変異解析は大きく進歩した2017

    • Author(s)
      細野克博、蓑島伸生、堀田喜裕
    • Organizer
      第121回日本眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Long-Term Clinical Course In A Patient With Complete Congenital Stationary Night Blindness2017

    • Author(s)
      Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
    • Organizer
      ISGEDR
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Changes in Macular Structure and Retinal Function in Patients with Leber Congenital Amaurosis with RPGRIP1 Mutations2017

    • Author(s)
      Daisuke Miyamichi, Sachiko Nishina, Katsuhiro Hosono, Tadashi Yokoi, Kentaro Kurata, Miho Sato, Shinsei Minoshima, Maki Fukami, Yoshihiro Hotta, Noriyuki Azuma
    • Organizer
      ARVO
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Changes in Macular Structure and Retinal Function in Patients with Leber Congenital Amaurosis with RPGRIP1 Mutations2017

    • Author(s)
      Daisuke Miyamichi, Sachiko Nishina, Katsuhiro Hosono, Tadashi Yokoi, Kentaro Kurata, Miho Sato, Shinsei Minoshima, Maki Fukami, Yoshihiro Hotta, Noriyuki Azuma
    • Organizer
      ARVO
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Long-Term Clinical Course In A Patient With Complete Congenital Stationary Night Blindness2017

    • Author(s)
      Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
    • Organizer
      ISGEDR
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] レーバー先天盲の日本人患者に対する次世代シークエンサーを用いた遺伝子診断2017

    • Author(s)
      堀田喜裕
    • Organizer
      第19回Japan Macula Club
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] Leber先天盲の1家系3症例のターゲットシークエンス解析2017

    • Author(s)
      堀田喜裕、仁科幸子、細野克博、宮道大督、横井匡、倉田健太郎、彦谷明子、佐藤美保、深見真紀、蓑島伸生、東範行
    • Organizer
      第24回日本遺伝子診療学会
    • Data Source
      KAKENHI-PROJECT-17K11479
  • [Presentation] Leber先天盲の1家系3症例のターゲットシークエンス解析2017

    • Author(s)
      堀田喜裕、仁科幸子、細野克博、宮道大督、横井匡、倉田健太郎、彦谷明子、佐藤美保、深見真紀、蓑島伸生、東範行
    • Organizer
      第24回日本遺伝子診療学会
    • Data Source
      KAKENHI-PROJECT-17K11447
  • [Presentation] 次世代シークエンサーを用いたレーバー先天盲の1家系3症例の遺伝子変異解析とその臨床像2017

    • Author(s)
      細野克博、仁科幸子、宮道大督、横井匡、倉田健太郎、彦谷明子、蓑島伸生、佐藤美保、深見真紀、堀田喜裕、東範行
    • Organizer
      第22回浜松医科学シンポジウム
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Fine genomic analysis of deletion mutations in the locus control region of OPN1LW/OPN1MW genes in 2 Japanese families with blue cone monochromacy2016

    • Author(s)
      Katsuhiro Hosono, Chunxia Wang, Shu Kachi, Kentaro Kurata, Kimiko Suto, Makoto Nakamura, Hiroko Terasaki, Yozo Miyake, Yoshihiro Hotta, Shinsei Minoshima
    • Organizer
      XXII Biennial Meeting of the International Society for Eye Research
    • Place of Presentation
      東京
    • Year and Date
      2016-09-25
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 頭位異常を契機に診断したJoubert症候群の一例2016

    • Author(s)
      宇佐美貴寛、鈴木寛子、古森美和、彦谷明子、福田冬季子、堀田喜裕、佐藤美保
    • Organizer
      第41回日本小児眼科学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2016-06-24
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 前眼部OCTを用いた水平直筋付着部測定についての検討2016

    • Author(s)
      長谷岡宗、新井慎司、稲垣理佐子、鈴木寛子、古森美和、彦谷明子、堀田喜裕、佐藤美保
    • Organizer
      第72回日本弱視斜視学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] Fine genomic analysis of deletion mutations in the locus control region of OPN1LW/OPN1MW genes in 2 Japanese families with blue cone monochromacy2016

    • Author(s)
      Katsuhiro Hosono, Chunxia Wang, Shu Kachi, Kentaro Kurata, Kimiko Suto, Makoto Nakamura, Hiroko Terasaki, Yozo Miyake, Yoshihiro Hotta, Shinsei Minoshima
    • Organizer
      XXII Biennial Meeting of the International Society for Eye Research
    • Place of Presentation
      東京
    • Year and Date
      2016-09-25
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] A novel homozygous c.636delT mutation in SAG in a Japanese patient with retinal dystrophy2016

    • Author(s)
      Kentaro Kurata, Nobutaka Tachibana, Takahiro Matsuoka, Katuhiro Hosono, Akiko Hikoya, Yuuki Ohashi, Miho Sato, Masayo Takahashi, Yoshihiro Hotta
    • Organizer
      XVIIth International Symposium on Retinal Degeneration
    • Place of Presentation
      京都
    • Year and Date
      2016-09-19
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] A novel homozygous c.636delT mutation in SAG in a Japanese patient with retinal dystrophy2016

    • Author(s)
      Kentaro Kurata, Nobutaka Tachibana, Takahiro Matsuoka, Katuhiro Hosono, Akiko Hikoya, Yuuki Ohashi, Miho Sato, Masayo Takahashi, Yoshihiro Hotta
    • Organizer
      XVIIth International Symposium on Retinal Degeneration
    • Place of Presentation
      京都
    • Year and Date
      2016-09-19
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K20253
  • [Presentation] 長期間のフォローが可能であった完全型先天停在性夜盲の1例2016

    • Author(s)
      倉田健太郎,細野克博,堀田喜裕
    • Organizer
      第64回日本臨床視覚電気生理学会
    • Place of Presentation
      三重
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 次世代シークエンサーを用いたレーバー先天盲の1家系3症例の遺伝子変異解析2016

    • Author(s)
      細野克博、仁科幸子、宮道大督、横井匡、彦谷明子、佐藤美保、蓑島伸生、深見真紀、東範行、堀田喜裕
    • Organizer
      第41回日本小児眼科学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-06-24
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] ラット網膜光障害の感受性遺伝子領域の領域限定エキソーム解析2016

    • Author(s)
      大石健太郎、大坪正史、細野克博、尾花 明、堀田喜裕、蓑島伸生
    • Organizer
      日本眼科学会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] 次世代シークエンサーを用いたレーバー先天盲の1家系3症例の遺伝子変異解析2016

    • Author(s)
      細野克博、仁科幸子、宮道大督、横井匡、彦谷明子、佐藤美保、蓑島伸生、深見真紀、東範行、堀田喜裕
    • Organizer
      第41回日本小児眼科学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-06-24
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] RPGRIP1遺伝子異常によるレーバー先天盲の1家系3症例の臨床像2016

    • Author(s)
      宮道大督、仁科幸子、細野克博、横井匡、倉田健太郎、彦谷明子、蓑島伸生、佐藤美保、深見真紀、堀田喜裕、東範行
    • Organizer
      第55回日本網膜硝子体学会総会
    • Place of Presentation
      東京
    • Year and Date
      2016-12-02
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] ラット網膜光障害感受性を支配する遺伝子多型の探索2016

    • Author(s)
      大石健太郎,大坪正史,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第39回日本分子生物学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2016-11-30
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] ラット網膜光障害の感受性遺伝子領域の領域限定エキソーム解析2016

    • Author(s)
      大石健太郎,大坪正史,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第120回日本眼科学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] ラット網膜光障害感受性の責任遺伝子(Rpi1) 領域の限局化2015

    • Author(s)
      大石健太郎、細野克博、尾花 明、堀田喜裕、平光忠久、蓑島伸生
    • Organizer
      BMB2015
    • Place of Presentation
      神戸
    • Year and Date
      2015-12-01
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] 全エキソーム解析からHPS6遺伝子異常を同定できた眼白日証の姉妹例2015

    • Author(s)
      宮道大督、朝比奈美輝、中島隼也、佐藤美保、細野克博、野村隆仁、根岸貴志、今川英里、三宅紀子、堀田喜裕、緒方勤、松本直道
    • Organizer
      第69回日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] SAG遺伝子の636delT をホモ接合体で持つ網膜ジストロフィの1例2015

    • Author(s)
      松岡貴大、細野克博、立花信貴、彦谷明子、荒井優気、佐藤美保、高橋 政代、堀田喜裕
    • Organizer
      第69回日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-15K20253
  • [Presentation] レーバー先天盲の(二卵性)双生児の次世代シークエンサーを用いた遺伝子変異解析2015

    • Author(s)
      細野克博、佐藤美保、原田祐子、倉田健太郎、彦谷明子、蓑島伸生、堀田喜裕
    • Organizer
      第71回日本弱視斜視学会総会/第40回日本小児眼科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2015-07-03
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 常染色体劣性網膜色素変性患者におけるEYS遺伝子各エキソンのコピー数変異解析2015

    • Author(s)
      細野克博、蓑島伸生、彦谷明子、佐藤美保、堀田喜裕
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌
    • Year and Date
      2015-04-16
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] SAG遺伝子の636delT をホモ接合体で持つ網膜ジストロフィの1例2015

    • Author(s)
      松岡貴大、細野克博、立花信貴、彦谷明子、荒井優気、佐藤美保、高橋 政代、堀田喜裕
    • Organizer
      第69回日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 加齢黄斑変性と網膜光障害の関連遺伝子の追究: 易罹患性診断への応用を目指して2015

    • Author(s)
      大石健太郎、細野克博、尾花 明、堀田喜裕、平光忠久、蓑島伸生
    • Organizer
      日本遺伝子診療学会
    • Place of Presentation
      横浜
    • Year and Date
      2015-07-18
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] Visual Outcomes of Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations2015

    • Author(s)
      Suto K, Hosono K, Nagase Y, Nakanishi H, Mizuta K, Minoshima S, Hotta Y
    • Organizer
      ARVO 2015
    • Place of Presentation
      Denver
    • Year and Date
      2015-05-03
    • Invited
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] Three Japanese Cases with Autosomal Recessive Retinitis Pigmentosa associated with the USH2A Gene Mutation2013

    • Author(s)
      Hotta Y, Hosono K, Suto K, Sato M, Mizuta K, Minoshima S.
    • Organizer
      The 8th APVRS Congress
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] USH2A遺伝子異常を認めた非症候群性網膜色素変性の3症例2013

    • Author(s)
      趙 洋、細野克博、須藤希実子、永瀬康規、水田邦博、大坪正史、峯田周幸、蓑島伸生、堀田喜裕
    • Organizer
      第20回日本遺伝子診療学会大会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の責任遺伝子領域の限局化:加齢黄斑変性の易罹患性の遺伝子診断に向けて2013

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第20回日本遺伝子診療学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] Wang C, Hosono K, kachi S, Terasaki H, Hotta Y, Minoshima S. Fine analysis of the deletions in red/green opsin genes and the upstream locus control region (LCR) found in two Japanese families with blue cone monochromacy (BCM)2013

    • Author(s)
      Wang C, Hosono K, kachi S, Terasaki H, Hotta Y, Minoshima S.
    • Organizer
      ARVO 2013
    • Place of Presentation
      シアトル
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] USH2A遺伝子異常を認めた非症候性網膜色素変性の3症例2013

    • Author(s)
      須藤希実子、細野克博、趙 洋、永瀬康規、水田邦博、峯田周幸、蓑島伸生、堀田喜裕
    • Organizer
      第67回日本臨床眼科学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 網膜色素変性と関連疾患におけるEYS遺伝子の2種類の変異の分子遺伝学的解析2013

    • Author(s)
      細野克博、石上智愛、高橋政代、朴 東浩、上野真治、萩原 章、山本修一、佐藤美保、寺﨑浩子、金 仁澤、東 範行、近藤峰生、蓑島伸生、堀田喜裕
    • Organizer
      第117回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mapping Susceptibility Loci to Rat Retinal Photic Injury2013

    • Author(s)
      Ohishi, K., Hosono, K., Obana, A., Hotta, Y., Hiramitsu, T., Minoshima, T.
    • Organizer
      1st International Symposium on Blue Light Society
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] USH2A遺伝子異常を認めた網膜色素変性の3症例2013

    • Author(s)
      堀田喜裕、細野克博、趙 洋、須藤希実子、大坪正史、水田邦博、峯田周幸、蓑島伸生
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害の感受性に関与する遺伝子の追究2013

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第35回日本光医学・光生物学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] Three Japanese Cases with Autosomal Recessive Retinitis Pigmentosa associated with the USH2A Gene Mutation2013

    • Author(s)
      Hotta Y, Hosono K, Suto K, Sato M, Mizuta K, Minoshima S
    • Organizer
      APVRS
    • Place of Presentation
      Nagoya
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の遺伝解析:加齢黄斑変性の易罹患性の原因遺伝子の同定に向けて2012

    • Author(s)
      大石健太郎、 細野克博、 尾花明、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第23回眼科酸化ストレス研究会
    • Place of Presentation
      神戸
    • Year and Date
      2012-07-28
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] Mutation Analaysis in EYS (Eyes Shut Homolog) gene among Japanase and Korean Patients with Autosomal Recessive Retinitis Pigmentosa.2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi, Park DH, Ueno S, Terasaki H, Shin JP, Kim IT, Kondo M, Minoshima S.
    • Organizer
      The 12th Kyungpook-Hamamatsu Joint Medical Symposium
    • Place of Presentation
      Hamamatsu
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] わが国のレーバー先天盲の分子遺伝学的解析2012

    • Author(s)
      堀田喜裕、細野克博、彦谷明子、横井匡、仁科幸子、蓑島伸生、佐藤美保、東範行
    • Organizer
      第68回日本弱視斜視学会/第37回日本小児眼科学会総会合同大会
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mutation analysis in EYS (Eyes Shots Homolog) among Japanese patients with Retinitis pigmentosa.2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi, Park DH, Ueno S, Shin JP, Kim IT, Kondo M, Minoshima S.
    • Organizer
      APAO
    • Place of Presentation
      Busan
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mutation Analaysis in EYS (Eyes Shut Homolog) gene among Japanase and Korean Patients with Autosomal Recessive Retinitis Pigmentosa2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi M, Park DH, Ueno S, Terasaki H, Shin JP, Kim IT, Kondo M, Minoshima S
    • Organizer
      The 12^<th> Kyungpook-Hamamatsu Joint Medical Symposium
    • Place of Presentation
      Hamamatsu
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] An Adenine Insertion between Nucleotide Positions 4957 and 4958 in the EYS Gene Is a Possible Major Cause of arRP in the Japanese Population2012

    • Author(s)
      Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Yasuhiko Hirami, Shinji Ueno, Noriyuki Azuma, Hiroko Terasaki, Mineo Kondo, Shinsei Minoshima, YoshihiroHotta
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] Mutation analysis in EYS (Eyes Shut Homolog) among Japanese patients with Retinitis pigmentosa2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi M, Park DH, Ueno S, Shin JP, Kim IT, Kondo M, Minoshima S
    • Organizer
      APAO
    • Place of Presentation
      Busan
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の責任遺伝子領域の限局化2012

    • Author(s)
      大石健太郎、 細野克博、 尾花明、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第116回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] c.4957_4958insA挿入変異を網膜色素変性の親子の片方に認める2家系2012

    • Author(s)
      堀田喜裕、細野克博、石上智愛、荒井優気、平見恭彦、高橋希実子、蓑島伸生、高橋政代
    • Organizer
      第51回日本網膜硝子体学会
    • Place of Presentation
      甲府
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 本邦網膜色素変性患者のEYS(Eyes ShutHomolog)遺伝子の変異解析2012

    • Author(s)
      細野克博、石上智愛、高橋政代、平見恭彦、上野真治、山本修一、東範行、寺崎浩子、佐藤美保、近藤峰生、蓑島伸生、堀田喜裕
    • Organizer
      第116回日本眼科学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] Establishing a mouse cell line from a brain tumor developed with SV40 Large T antigen driven by a photoreceptor-specific gene promoter.2011

    • Author(s)
      Hosono K, Ohishi K, Yamamoto S, Nakanishi H, Yamaguchi Y, Kudoh J, Shimizu N, Hotta Y, Minoshima S.
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 日本人のBothniaジストロフィの1例2011

    • Author(s)
      堀田喜裕、細野克博、野嶋計寿、趙洋、彦谷明子、近藤峰生、蓑島伸生
    • Organizer
      第18回日本遺伝子診療学会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Establishing a mouse cell line from a brain tumor developed with SV40 Large T antigen driven by a photoreceptor-specific gene promoter.2011

    • Author(s)
      Hosono K, Ohishi K, Yamamoto S, Nakanishi H, Yamaguchi Y, Kudoh J, Shimizu N, Hotta Y, Minoshima S.
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] Genetic Analysis of Rat Strain-dependent Difference in the Susceptibility to Retinal Photic Injury and Mapping Possible Susceptibility Loci2011

    • Author(s)
      Ohishi, K., Hosono, K., Obana, A., Hotta, Y., Hiramitsu, T., Minoshima, T
    • Organizer
      4th International Conference on Health and Longevity Sciences (ICHALS)
    • Place of Presentation
      Shizuoka
    • Year and Date
      2011-10-21
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] 口腔粘膜からの慢性進行性外眼筋麻痺の遺伝子診断の試み2011

    • Author(s)
      鳥居薫子、根岸貴志、細野克博、澤田麻友、彦谷明子、佐藤美保、堀田喜裕
    • Organizer
      第65回日本臨床眼科学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Clinical features of a Japanese patient with Bothnia dystrophy.2011

    • Author(s)
      Nojima K, Hosono K, Zhao Y, Toshiba T, Asai T, Kato M, Minoshima S, Hotta Y.
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] 本邦症例における網膜色素変性原因遺伝子EYSの寄与と原因変異解析2011

    • Author(s)
      細野克博、中西啓、彦谷明子、藤田太一、須藤希実子、趙洋、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第5回浜松医科学シンポジウム(招待講演)
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] ラット網膜光障害の行動学的解析法の妥当性の検証:病理組織観察結果との相関解析2011

    • Author(s)
      大石健太郎、 細野克博、 尾花明、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第115回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] 視細胞特異的プロモーターとSV40LargeT抗原によるマウス培養細胞株の樹立2011

    • Author(s)
      細野克博、大石健太郎、山口良考、工藤純、清水信義、堀田喜裕、蓑島伸生
    • Organizer
      第115回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23791975
  • [Presentation] Clinical features of a Japanese patient with Bothnia dystrophy.2011

    • Author(s)
      Nojima K, Hosono K, Zhao Y, Toshiba T, Asai T, Kato M, Minoshima S, Hotta Y.
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 視細胞特異的プロモーターとSV40LargeT抗原によるマウス培養細胞株の樹立2011

    • Author(s)
      細野克博、大石健太郎、山口良考、工藤純、清水信義、堀田喜裕、蓑島伸生
    • Organizer
      第115回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 本邦症例における網膜色素変性原因遺伝子EYSの寄与と原因変異解析2011

    • Author(s)
      細野克博、中西啓、彦谷明子、藤田太一、須藤希実子、趙洋、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第5回浜松医科学シンポジウム(招待講演)
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の責任遺伝子探索:連続戻し交配による領域の限局化2010

    • Author(s)
      大石健太郎、 細野克博、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第33回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Year and Date
      2010-12-10
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] マイクロサテライト多型解析によるラット網膜光障害感受性の遺伝学的解析2010

    • Author(s)
      大石健太郎、 細野克博、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第21回眼科酸化ストレス研究会
    • Place of Presentation
      東京
    • Year and Date
      2010-07-31
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] ラット網膜光障害感受性の遺伝学的解析:加齢黄斑変性の発症機序解明に向けて.2010

    • Author(s)
      大石健太郎、 細野克博、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第114回日本眼科学会総会
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] 緑内障原因遺伝子ミオシリンの相互作用蛋白の同定発症を修飾する因子としての可能性2009

    • Author(s)
      大坪正史、中西伸夫、Thanseem Ismail、堀田喜裕、蓑島伸生
    • Organizer
      第113回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Interaction between optineurin and bZIP transcription factor NRL.2009

    • Author(s)
      Wang, C., Hosono, K., Ohtsubo, M., Ohishi, K., Nakanishi, N., Hikoya, A., Sato, M., Hotta, Y., Minoshima, S.
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Florida (USA)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障原因遺伝子産物オプチニュリンと相互作用するタンパクの同定.2009

    • Author(s)
      大坪正史、Thanseem Ismail、細野克博、堀田喜裕、蓑島伸生
    • Organizer
      第32回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] オプチニューリンとNRLタンパクの相互作用の解析.2008

    • Author(s)
      王春霞、細野克博、大坪正史、大石健太郎、中西伸夫、堀田喜裕、蓑島伸生
    • Organizer
      第31回日本分子生物学会年会第81回日本生化学会大会合同年会
    • Place of Presentation
      神戸
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障発症機序の分子レベルでの解明:緑内障原因遺伝子ミオシリンの産物蛋白質が細胞外で相互作用する蛋白質の探索.2008

    • Author(s)
      中西伸夫、大坪正史、大石健太郎、Ismail Thanseem、細野克博、王春霞、堀田喜裕、蓑島伸生
    • Organizer
      第31回日本分子生物学会年会第81回日本生化学会大会合同年会
    • Place of Presentation
      神戸
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障候補領域に座し既知原因遺伝子OPTNと相互作用するタンパク遺伝子の変異解析2008

    • Author(s)
      大坪正史、細野克博、朝岡亮、王春霞、中西啓、WirtzMary K. 、峯田周幸、堀田喜裕、蓑島伸生
    • Organizer
      第112回日本眼科学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] オプチニューリンとNRLタンパク質の相互作用の解析.2007

    • Author(s)
      王春霞、大坪正史、細野克博、大石健太郎、堀田喜裕、蓑島伸生
    • Organizer
      第111回日本眼科学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] SYMPHONIE, a knowledge-base of symptoms exhibited in diseases with genetic factors.2007

    • Author(s)
      Ohtsubo, M., Wang, CX., Hotta, Y., Nakanishi, H., Mineta, H., Moriwaki, S., Kawaguchi, K., Nakanishi, N., Adachi, K., Horisawa, T., Terao, T., Minoshima, S.
    • Organizer
      The 2007 Annual Conference of the Japanese Society for Bioinformatics (JSBi2007)
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Myocilin interacting proteins: Screening of a human retina yeast two hybrid cDNA library.2007

    • Author(s)
      Ohtsubo, M., Hosono, K., Wang, C., Hotta, Y., Minoshima, S.
    • Organizer
      American Society of Human Genetics (ASHG) 57th Annual Meeting
    • Place of Presentation
      San Diego (USA)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] SYMPHONIE: A knowledge-base to hierarchically classify symptoms associated with gene-related diseases.2006

    • Author(s)
      Ohtsubo, M., Moriwaki, S., Wang, C.X., Hotta, Y., Horisawa, T., Shimizu, N., Terao, T., Minoshima, S.
    • Organizer
      The 11th International Congress of Human Genetics
    • Place of Presentation
      Brisbane (Australia)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ラット網膜光障害感受性を支配する責任遺伝子領域の限局化

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第118回日本眼科学会
    • Place of Presentation
      東京
    • Year and Date
      2014-04-02 – 2014-04-06
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] The first USH2A mutation analysis of Japanese Autosomal Recessive Retinitis Pigmentosa patients: A totally different mutation profile with the lack of frequent mutations found in Caucasian patients

    • Author(s)
      Katsuhiro Hosono, Yang Zhao, Kimiko Suto, Chie Ishigami, Yuuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
    • Organizer
      XVIth International Symposium on Retinal Degeneration
    • Place of Presentation
      California
    • Year and Date
      2014-07-13 – 2014-07-18
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析

    • Author(s)
      堀田喜裕、細野克博、趙洋、須藤希実子、石上智愛、荒井優気、彦谷明子、平見恭彦、大坪正史、上野真治、寺﨑浩子、佐藤美保、中西啓、遠藤志織、水田邦博、峯田周幸、近藤峰生、高橋政代、蓑島伸生
    • Organizer
      日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会
    • Place of Presentation
      東京
    • Year and Date
      2014-11-19 – 2014-11-22
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] Mutation Analysis of the USH2A Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

    • Author(s)
      Katsuhiro Hosono, Yang Zhao, Chie Ishigami, Shinji Ueno, Hiroshi Nakanishi, Hiroko Terasaki, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
    • Organizer
      ARVO2014
    • Place of Presentation
      Orland
    • Year and Date
      2014-05-05 – 2014-05-08
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析

    • Author(s)
      細野克博、石上智愛、須藤希実子、荒井優気、趙洋、水田邦博、峯田周幸、上野真治、寺﨑浩子、近藤峰生、高橋政代、蓑島伸生、堀田喜裕
    • Organizer
      第118回日本眼科学会総会
    • Place of Presentation
      東京
    • Year and Date
      2014-04-02 – 2014-04-06
    • Data Source
      KAKENHI-PROJECT-25861626
  • [Presentation] 加齢黄斑変性と網膜光障害の関連遺伝子探索

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      2014年度-夏の研究会(COI-Sプログラム)
    • Place of Presentation
      岡崎
    • Year and Date
      2014-09-04 – 2014-09-05
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] A twin with Leber congenital amaurosis possibly caused by the GUCY2D gene mutation

    • Author(s)
      Yuko Harada, Katsuhiro Hosono, , Akiko Hikoya, Shinsei Minoshima, Miho Sato, Yoshihiro Hotta
    • Organizer
      AAPOS-JAPO-JASA Joint Meeting
    • Place of Presentation
      京都
    • Year and Date
      2014-11-30 – 2014-12-01
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] ラット網膜光障害の感受性を支配する責任遺伝子の追究

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第37回日本分子生物学年会
    • Place of Presentation
      横浜
    • Year and Date
      2014-11-25 – 2014-11-28
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] The first USH2A mutation analysis of Japanese Autosomal Recessive Retinitis Pigmentosa patients: A totally different mutation profile with the lack of frequent mutations found in Caucasian patients

    • Author(s)
      Katsuhiro Hosono, Yang Zhao, Kimiko Suto, Chie Ishigami, Yuuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
    • Organizer
      XVIth International Symposium on Retinal Degeneration
    • Place of Presentation
      California
    • Year and Date
      2014-07-13 – 2014-07-18
    • Data Source
      KAKENHI-PROJECT-25861626
  • [Presentation] Mutation Analysis of the USH2A Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

    • Author(s)
      Katsuhiro Hosono, Yang Zhao, Chie Ishigami, Shinji Ueno, Hiroshi Nakanishi, Hiroko Terasaki, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
    • Organizer
      ARVO2014
    • Place of Presentation
      Orland
    • Year and Date
      2014-05-04 – 2014-05-08
    • Data Source
      KAKENHI-PROJECT-25861626
  • [Presentation] 網膜色素変性と関連疾患におけるEYS遺伝子の2種類の変異の分子遺伝学的解析

    • Author(s)
      細野克博、石上智愛、高橋政代、朴 東浩、上野真治、萩原 章、山本修一、佐藤美保、寺﨑浩子、金 仁澤、東 範行、近藤峰生、蓑島伸生、堀田喜裕
    • Organizer
      第117回日本眼科学会総会
    • Place of Presentation
      東京
    • Year and Date
      2013-04-04 – 2013-04-07
    • Data Source
      KAKENHI-PROJECT-25861626
  • 1.  HOSONO Katsuhiro (60402260)
    # of Collaborated Projects: 9 results
    # of Collaborated Products: 120 results
  • 2.  MINOSHIMA Shinsei (90181966)
    # of Collaborated Projects: 8 results
    # of Collaborated Products: 83 results
  • 3.  FUJIKI Keiko
    # of Collaborated Projects: 7 results
    # of Collaborated Products: 0 results
  • 4.  OHISHI Kentaro (80345826)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 28 results
  • 5.  OHTSUBO Masafumi (10327653)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 22 results
  • 6.  TAKAHASHI Masayo (80252443)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 19 results
  • 7.  YAMAMOTO Shuichi (20230550)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 5 results
  • 8.  HAYAKAWA Mutsuko (60095825)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 0 results
  • 9.  KONDO Mineo (80303642)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 15 results
  • 10.  OBANA Akira (40194625)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 18 results
  • 11.  SAKUMA Hitoshi (60235207)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 12.  NAKAYASU Kiyoo (10124976)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 13.  SATO Miho (50252242)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 38 results
  • 14.  AZUMA Noriyuki (10159395)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 25 results
  • 15.  MORIWAKI Shinichi (40303565)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 16.  ISMAIL Thanseem (60569846)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 3 results
  • 17.  YOKOYAMA Toshiyuki (00191528)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 18.  KANAI Atsushi (00053059)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 19.  近藤 寛之 (40268991)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 10 results
  • 20.  才津 浩智 (40402838)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 21.  KURATA KENTARO
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 8 results
  • 22.  MURAKAMI Akira (90157743)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  AKIYAMA Shuichi (10192915)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  KAWANO Hiroyuki (70234094)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  SAITO Akio (10260902)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  KAWANO Toshio (50303566)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  KATO Masaru (60161121)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  NAKAMURA Makoto (60283438)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  MIYAKE Yozo (30166136)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  IWASAKI Satoshi (00232653)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 31.  KITAGAWA Masatoshi (50294971)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 32.  Hikoya Akiko (80464113)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 32 results
  • 33.  Tachibana Nobutaka (80647397)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 34.  中西 啓 (20444359)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 35.  寺崎 浩子 (40207478)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
  • 36.  矢島 寿広 (50230199)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 37.  佐渡 一成 (70205988)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 38.  横井 匡 (80514025)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 39.  岩泉 守哉 (60444361)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 40.  鳥居 薫子 (40970885)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 41.  NISHINA Sachiko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 11 results
  • 42.  FUKAMI maki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 8 results
  • 43.  NAKANO tadashi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 44.  HAYASHI takaaki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
  • 45.  中西 伸夫
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 46.  王 春霞
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 47.  杉山 将隆.
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 48.  UENO Shinji
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 49.  扇田 久和
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 50.  中澤 満
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 51.  阿部 俊明
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 52.  古森 美和
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 53.  松本 直通
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 54.  三宅 紀子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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