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Fukushima Yoshimitsu  福嶋 義光

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FUKUSHIMA YOSHIMITU  福嶋 義光

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Researcher Number 70273084
Other IDs
External Links
Affiliation (Current) 2025: 信州大学, 医学部, 特任教授
Affiliation (based on the past Project Information) *help 2017 – 2019: 信州大学, 医学部, 特任教授
2014 – 2016: 信州大学, 学術研究院医学系, 教授
2004 – 2016: 信州大学, 医学部, 教授
2015: 信州大学, 医学部遺伝医学予防医学, 教授
2011: 信州大学, 医学部, 教授、医学部長 … More
2005: SHINSHU UNIVERSITY, DEPARTMENT OF MEDICAL GENETICS, PROFESSOR
2004: 信州大学, 大学院・医学研究所, 教授
2003: Shinshu Univ. Sch. Med., Medical Genetics, Professor, 大学院医学系研究科, 教授
2000 – 2003: 信州大学, 大学院・医学研究科, 教授
2002: Shinshu University School of Medicine, Professor, 医学部・社会予防医学講座, 教授
1999 – 2001: Shinshu University School of Medicine, Professor, 医学部・衛生学, 教授
1996 – 2000: 信州大学, 医学部, 教授
1998: 信州大学, 医学部・, 教授 Less
Review Section/Research Field
Principal Investigator
Human genetics / Bioethics / 医療における生命倫理 / Biological Sciences / Medical sociology / Hygiene
Except Principal Investigator
Human genetics / Biological Sciences / Human genetics / Pediatrics … More / Public health/Health science / Medical sociology / Surgical dentistry / Learning support system / Hygiene / General surgery / Pediatrics / Human pathology / Hygiene / Embryonic/Neonatal medicine / Embryonic/Neonatal medicine Less
Keywords
Principal Investigator
遺伝カウンセリング / DBCRs / FISH / fluorescence in situ hybridization / Mendelian Cytogenetics / ELSI / ガイドライン / 遺伝学的検査 / 遺伝子診療 / 遺伝子診断 … More / balanced translocation / chromosome rearrangement / chromosome abnormality / positional cloning / BAC / YAC / ボジショナルクローニング / BACクローン / 思春期早発症 / 染色体構造異常 / FISH解析 / 特発性思春期早発症 / 染色体均衡型構造異常 / 相互転座 / 均衡型構造異常 / 染色体異常 / ポジショナルクローニング / マイクロアレイ染色体検査 / 偶発的所見 / 遺伝子診断ビジネス / マイクロアレイ / 次世代シークエンサー / パーソナルゲノム / 遺伝情報 / 指針 / ゲノム医学 / ゲノム情報 / 社会医学 / 生命倫理 / ゲノム / 遺伝学 / プラダ-ウィリ症候群 / 遺伝子カウンセリング / 遺伝診断 / プラダーウィリ症候群 / 新生児 / プラダー・ウィリー症候群 / 精神的ケア / 心理的影響 / 早期診断 / カウンセリング / 倫理的・法的・社会的問題(ELSI) / 疾病予防 / 健康予知医学 / 遺伝要因 / ライフスタイル / ヒトゲノム解析 / 生活習慣病 … More
Except Principal Investigator
p53 / 遺伝子 / ゲノム / 連鎖解析 / 3D-FISH解析 / エピジェネティクス / 喫煙 / 飲酒 / 食生活 / 中国 / 食道がん / メチル化特異的PCR / メチル化 / 染色体構造異常 / DNA / methylation-specific PCR / methylation / 2,4-dichlorophenoxyacetic acid / PPARα / linkage analysis / マイクロサテライトマーカー / molecular epidemiology / China / esophageal cancer / 食道癌 / 栄養摂取状況 / 心房中隔欠損症 / 疾患遺伝子座 / マイクロアレイ染色体検査 / エピジェネティック / RNA-FISH / 相同染色体 / インプリンティング / 胃癌 / ノックアウトマウス / 位置効果 / 3D-FISH / 細胞遺伝学 / バンキング / 遺伝子解析 / 口蓋裂 / 口唇裂 / 先天異常 / 疫学 / 遺伝医学 / 分子遺伝学 / 井戸水 / 分子疫学 / 教材開発 / 染色体検査 / cytogenetics / 細胞遺伝 / 遺伝学的検査 / 国際協力 / 口唇口蓋裂 / 1細胞解析 / X染色体不活化 / 1細胞解析 / position effects / genome / gene / 3D-FISH analysis / structural chromosomal abnormality / familial cases of genetic diseases / disease genes / gene mapping / single-gene disorders / ITGA3B遺伝子 / 遺伝性難聴 / WFS1遺伝子 / 疾病遺伝子 / 変異解析 / 単一遺伝子疾患 / 緊張性四肢麻痺 / 無臭覚症 / 家族性側索硬化症 / ハプロタイプ解析 / 無嗅覚症 / 下顎前突症 / 多汗症 / 家族性心房中核欠損症 / 遺伝病家系 / 疾患遺伝子 / 遺伝子マッピング / 遺伝子病 / mono allelic / deletion / translocation / Prader-Willi Syndrome / domain / imprinting / 欠失 / 染色体 / 片親発現 / 染色体欠失 / 染色体転座 / プラダーウィリ症候群 / ドメイン / Diabetes / high blood pressure / circulatory organ / A genome / Allergic asthma / DNAチップ / リュウマチ / 多因子疾患 / 喘息 / アレルギー / 高血圧 / 糖尿病 / 循環器・高血圧 / アレルギー喘息 / nonrandom pattern / HUMARA gene / androgen receptor gene / carrier detection / inactivation / X-chromosome / メチレーション / HUMARA遺伝子 / BFL症候群 / アンドロゲン受容体遺伝子 / 保因者診断 / 不活化 / X染色体 / Intake per day / endocrine-disrupting chemicals / Meals / testosterone / reproductive toxicity / di(2-ethylhexyl)phthalate / 繁殖率 / ペルオキシゾーム酵素 / 2世代生殖毒性実験 / 酸化ストレス / ジエチルヘキシルアジピン酸 / ジエチルヘキシルフタル酸 / ジシクロヘキシルフタル酸 / ブチルベンジルフタル酸 / ジブチルフタル酸 / ジエチルフタル酸 / 食事 / フタル酸ブチルベンジル / フタル酸ジn-ブチル / Peroxisome proliferator activated receptor α / フタル酸ジ2-エチルヘキシル / 1日の摂取量 / 内分泌撹乱作用 / 陰膳 / テストステロン / 生殖毒性 / フタル酸ジューエチルヘキシン / Nutritional style / nutritional habit / DNA methylation / P53 mutation / case-control study / ビタミン類 / 食堂がん / 果物類 / 野菜類 / 大豆類 / いも類 / 食習慣 / 分子疫学研究 / DNAメチル化異常 / p53変異 / 症例-対照研究 / Thailand / mesomelic dysplasia / bone disease / タイ / 責任遺伝子 / クローニング / mesomedic dysplasia / Mesomelic dysplasia / 骨系統疾患 / Cardiac myxoma / Breast cancer / Gastric cancer / Comparative genomic hybridization / micro-satellite marker / Free DNA in peripheral blood / Gene mutation / Non-small cell lung cancer / D21S1245 / TP53 / D3S1300 / D3S1284 / 末梢血遊離DNA / 遺伝子変異 / 心臓粘液腫 / 乳癌 / CGH / 肺高分化型腺癌 / 非小細胞型肺癌 / alcohol intake / smoking / Life style / Nutritional status / シトクロムP450 / カロテン / ビタミンC / セレン / ビタミンE / βカロテン / ビタミンA / P53 / POSITIONAL CLONING / ATRIAL SPEPTAL DEFECT / FAMILIAL CATARACT / Paroxysmal kinetogenic choreoathetosis / ENGELMANN DISEASE / MESOMELIC DYSPLASIA / DISEASE LOCUS / LINKAGE ANALYSIS / 肢中部短縮型小人症 / ポジショナルクローニング / 家族性白内症 / 発作性運動誘発性コレオアテトーシス / Engelmann病 / 中間肢短縮小人症 / パネル解析 / 知的障害原因 / 臨床エクソーム解析 / 遺伝カウンセリング / エクソーム解析 / 疾患パネル解析 / 次世代シークエンサー / 知的障害 / 遺伝子検査ビジネス / 環境要因 / 遺伝教育 / 市民教育 / 遺伝要因 / 生活習慣病 / 国際情報交換 / 全エクソーム解析 / 候補遺伝子解析 / 次世代シーケンス / 結合組織疾患 / 新規病型 / エーラスダンロス症候群 / 15q1 / 三次元距離 / 核内配置 / SNRPN / 片親性発現 / RNA-FISH解析 / 単一細胞解析 / 遺伝子発現 / 三次元核内配置 / 地域医療学 / 仕事と育児の両立 / キャリアプラン / 女性医師 / キャリア教育 / モチベーション / 仕事と家庭の両立 / 離職 / ロールモデル / キャリア形成 / 女性医師支援 / 1塩基遺伝子多型 / 慢性炎症 / 胃粘膜 / 慢性胃炎 / ピロリ菌 / 一塩基遺伝子多型 / 糖鎖遺伝子 / 糖転移酵素 / 染色体テリトリー / ATRX / クロマチンリモデリング / スクリーニング / 睡眠時無呼吸 / 予防医学 / 健康管理指針 / 自然歴 / 18トリソミー / ゲノムインフォーマティックス / 生命倫理 / ゲノムインフォーマティック / 病原微生物 / 有用微生物 / 多型解析 / 社会医学 / 微生物 / 臨床 / 産業微生物ゲノム / 微生物ゲノム / メディカルインフォマティクス / ヒトゲノム配列再解析 / ゲノムワイド関連解析 / 疾患関連遺伝子 / SNRPN遺伝子 / がん抑制遺伝子 / ゲノムスキャン / p16遺伝子 / プロモーター / がん関連遺伝子 / 出生前診断 / 2色FISH法 / FISH解析 / 各染色体腕特異的テロメリックプローブ / 微細相互転座 Less
  • Research Projects

    (35 results)
  • Research Products

    (152 results)
  • Co-Researchers

    (150 People)
  •  Development of a hands-on cytogenetics training program for genomic medical workers

    • Principal Investigator
      KAWAMURA Rie
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Learning support system
    • Research Institution
      Fujita Health University
      Shinshu University
  •  Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analyses

    • Principal Investigator
      Wakui Keiko
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencing

    • Principal Investigator
      TAKANO Kyoko
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Shinshu University
  •  Clinical and molecular investigation for new forms of Ehlers-Danlos syndrome

    • Principal Investigator
      KOSHO Tomoki
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Effect of knowledge about genetics on perception and health action of patients with common diseases

    • Principal Investigator
      Sakurai Akihiro
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Medical sociology
    • Research Institution
      Sapporo Medical University
  •  The three-dimensional distances between the genes on each homologous chromosome in each cell as nuclear organization and genomic expression of the imprinted gene.

    • Principal Investigator
      WAKUI Keiko
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Genomic analysis of genes relating to oral and maxillofacial congenital anomalies - Establishing a center of human genome resource banking

    • Principal Investigator
      NATSUME Nagato
    • Project Period (FY)
      2012 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Surgical dentistry
    • Research Institution
      Aichi Gakuin University
  •  Ethical, Legal and Social Implications in the Personal Genome EraPrincipal Investigator

    • Principal Investigator
      FUKUSHIMA Yoshimitsu
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Bioethics
    • Research Institution
      Shinshu University
  •  Analysis of single nucleotide polymorphisms of glycosyltransferase gene responsible for the biosysnthesis of gastricο-glycans and its significance for genetic factor involved in the development of gastric diseases

    • Principal Investigator
      NAKAYAMA Jun
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human pathology
    • Research Institution
      Shinshu University
  •  Research on women physician s career development in Japan

    • Principal Investigator
      KATAI Miyuki
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Medical sociology
    • Research Institution
      Tokyo Women's Medical University
  •  3D nuclear architecture of the regions close to the candidate gene (s) related to the constitutional chromosomal abnormalities

    • Principal Investigator
      WAKUI Keiko
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Study concerning analysis of genes causing oral congenital anomalies

    • Principal Investigator
      NATSUME Nagato
    • Project Period (FY)
      2007 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Surgical dentistry
    • Research Institution
      Aichi Gakuin University
  •  Study of the effect on the chromosomal territory in the nucleus by the mutated chromatin remodeling protein, ATRX

    • Principal Investigator
      WADA Takahito
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Epidemiologic study about usefulness of screening device, and relationship between Sleep Apnea Syndrome and life-style related disease

    • Principal Investigator
      NOMIYAMA Tetsuo
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hygiene
    • Research Institution
      Shinshu University
  •  Establishment of Ethics Guideline in Medical GeneticsPrincipal Investigator

    • Principal Investigator
      FUKUSHIMA Yoshimitsu
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      医療における生命倫理
    • Research Institution
      Shinshu University
  •  A balanced chromosomal translocation affects the inner nucleus positioning of thederivative chromosomes or not.

    • Principal Investigator
      WAKUI Keiko
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Clinical application of genome-medical researchPrincipal Investigator

    • Principal Investigator
      FUKUSHIMA Yoshimitsu
    • Project Period (FY)
      2005 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Shinshu University
  •  Applied Genomics

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2004 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
  •  18トリソミー症候群における自然歴及び健康管理指針の構築

    • Principal Investigator
      KOSHO Tomoki
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Shinshu University
  •  Investigation of the imprinted domain located at the chromosomal deletion associated with Prader-Willi syndrome

    • Principal Investigator
      KUBOTA Takeo
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      National Center of Neurology and Psychiatry
  •  CONSORTIUM-BACED LINKAGE ANALYSIS AND IDENTIFICATION OF GENES FOR SINGEL-GENE DISEASES

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      2001 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (S)
    • Research Field
      Human genetics
    • Research Institution
      NAGASAKI UNIVERSITY
  •  メチル化特異的PCRを用いたがん組織におけるメチル化異常のゲノムスキャン

    • Principal Investigator
      久保田 健夫
    • Project Period (FY)
      2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      National Center of Neurology and Psychiatry
  •  食道がんの環境的発生要因の分子疫学研究-特にがん関連遺伝子との係わりについて-

    • Principal Investigator
      那須 民江
    • Project Period (FY)
      2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      Shinshu University
  •  Genomic analysis on genetic factors of human diseases and elucidation of their molecular mechanisms

    • Principal Investigator
      SUGANO Sumio
    • Project Period (FY)
      2000 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
  •  Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.Principal Investigator

    • Principal Investigator
      FUKUSHIMA Yoshimitsu
    • Project Period (FY)
      2000 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  腕特異的テロメア混合プローブによる原因不明の先天異常における微細染色体異常の検出

    • Principal Investigator
      小山 裕
    • Project Period (FY)
      1999 – 2001
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Shinshu University
  •  Reproductive toxicity of endocrine-disrupting chemicals and the mechanism via peroxisome proliferators-activated receptor in relation to the risk assessment

    • Principal Investigator
      NASU Tamie
    • Project Period (FY)
      1999 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Hygiene
    • Research Institution
      Nagoya University
      Shinshu University
  •  Establishment of carrier detection method of X-linked diseases by methylation-specific PCR

    • Principal Investigator
      KUBOTA Takeo
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      National Center of Neurology and Psychiatry
      Shinshu University
  •  新生児期の遺伝子診断の功罪-遺伝カウンセリングシステム構築のために-Principal Investigator

    • Principal Investigator
      福嶋 義光
    • Project Period (FY)
      1998 – 2000
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Medical sociology
    • Research Institution
      Shinshu University
  •  Study on gene responsible for mesomelic dysplasia identified in Thailand

    • Principal Investigator
      MATSUO Masafumi
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (A).
    • Research Field
      Human genetics
    • Research Institution
      Kobe University
  •  Molecular epidemiology of environmental and hereditary factors in esophageal canser

    • Principal Investigator
      NASU Tamie
    • Project Period (FY)
      1998 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (B).
    • Research Field
      Public health/Health science
    • Research Institution
      Shinshu University
  •  生活習慣病と新しい公衆衛生-ヒトゲノム計画と社会との接点Principal Investigator

    • Principal Investigator
      福嶋 義光
    • Project Period (FY)
      1997
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hygiene
    • Research Institution
      Shinshu University
  •  Molecular Diagnosis of Non-Small Cell Lung Cancer, by Using Peripheral Blood

    • Principal Investigator
      AMANO Jun
    • Project Period (FY)
      1997 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      General surgery
    • Research Institution
      Shinshu University, School of Medicine
  •  LINKAGE ANALYSIS OF UNKNOWN GENETIC DISEASES

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      1996 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Human genetics
    • Research Institution
      NAGASAKI UNIVERSITY
  •  Interaction between environmental and genetic factors in the development of esophageal cancer

    • Principal Investigator
      NASU Tamie
    • Project Period (FY)
      1996 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Public health/Health science
    • Research Institution
      Shinshu University

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All Journal Article Presentation Book

  • [Book] 遺伝カウンセリング. メディカルノート検査の基本2008

    • Author(s)
      福嶋義光
    • Publisher
      西村書店
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 遺伝カンセリング. メディカルノート検査の基本2008

    • Author(s)
      福嶋義光
    • Publisher
      西村霧店
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] 先天異常(単一遺伝子病, 多因子遺伝病, 先天奇形). 小児疾患(よくわかる病態整理15)2008

    • Author(s)
      和田敬仁, 福嶋義光
    • Publisher
      日本医事新報社
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] 我が国の遺伝診療の充実に向けた取り組み : ガイドラインの整備と遺伝カウンセリング体制の構築. 遺伝診療をとりまく社会-その科学的・倫理的アプローチ-(監修 : 水谷修紀, 吉田雅幸, 編集 : 吉田雅幸, 小笹由香)2007

    • Author(s)
      福嶋義光
    • Publisher
      ブレーン出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 我が国の遺伝診療の充実に向けた取り組み:ガイドラインの整備と遺伝カウンセリング体制の構築 遺伝をとりまく社会-その科学的・倫理的アプローチ-2007

    • Author(s)
      福嶋義光(監修:水谷修紀, 吉田雅幸, 編集:吉田雅幸, 小笹由香)
    • Total Pages
      181
    • Publisher
      ブレーン出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 遺伝医療と倫理・法・社会2007

    • Author(s)
      福嶋義光, 玉井真理子(編)
    • Publisher
      メディカルドゥ
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] 難聴の遺伝カウンセリング.きこえと遺伝子-難聴の遺伝子診断と遺伝カウンセリング(宇佐美真一 編)2006

    • Author(s)
      福嶋義光, 宇佐美真一
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] 遺伝子診断を行なう際の注意点.きこえと遺伝子 -難聴の遺伝子診断と遺伝カウンセリング(宇佐美真一 編)2006

    • Author(s)
      福嶋義光
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] 遺伝子診断のガイドライン.小児科の新しい流れ(先端医療シリーズ34).(柳澤正義,衛藤義勝,五十嵐隆 編集主幹)2006

    • Author(s)
      福嶋義光
    • Publisher
      先端医療技術研究所
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] ゲノム情報と生命倫理・ガイドライン. バイオ解析・診断技術のテーラーメイド医療への応用(監修 : 山本重夫)2006

    • Author(s)
      福嶋義光
    • Publisher
      シーエムシー出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 難聴の遺伝カウンセリング.きこえと遺伝子 -難聴の遺伝子診断と遺伝カウンセリング(宇佐美真一 編)2006

    • Author(s)
      福嶋義光, 宇佐美真一
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 遺伝子診断のガイドライン. 小児科の新しい流れ(先端医療シリーズ34).(柳澤正義, 衛藤義勝, 五十嵐隆編集主幹)2006

    • Author(s)
      福嶋義光
    • Publisher
      先端医療技術研究所
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 生命倫理. バイオインフォマティクス事典(日本バイオインフォマティクス学会編集)2006

    • Author(s)
      福嶋義光
    • Publisher
      共立出版
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Book] 生命倫理.バイオインフォマティクス事典(日本バイオインフォマティクス学会編集)2006

    • Author(s)
      福嶋義光
    • Publisher
      共立出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 生命倫理. バイオインフォマティクス事典(日本バイオインフォマティクス学会編集)2006

    • Author(s)
      福嶋義光
    • Publisher
      共立出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 遺伝子診断を行なう際の注意点.きこえと遺伝子 -難聴の遺伝子診断と遺伝カウンセリング(宇佐美真一 編)2006

    • Author(s)
      福嶋義光
    • Publisher
      金原出版
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Book] 遺伝子診断のガイドライン.小児科の新しい流れ(先端医療シリーズ34).(柳澤正義,衛藤義勝, 五十嵐隆 編集主幹)2006

    • Author(s)
      福嶋義光
    • Publisher
      先端医療技術研究所
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.2016

    • Author(s)
      Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
    • Journal Title

      Am J Med Genet A.

      Volume: 170 Issue: 2 Pages: 322-328

    • DOI

      10.1002/ajmg.a.37432

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Journal Article] Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).2015

    • Author(s)
      Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
    • Journal Title

      Am J Med Genet A

      Volume: 167 Issue: 3 Pages: 592-601

    • DOI

      10.1002/ajmg.a.36942

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24591610, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-26461620, KAKENHI-PLANNED-24118007
  • [Journal Article] Surgical intervention for esophageal atresia in patients with trisomy 18.2014

    • Author(s)
      Nishi E, Takamizawa S, Iio K, Yamada Y, Yoshizawa K, Hatata T, Hiroma T, Mizuno S, Kawame H, Fukushima Y, Nakamura T, Kosho T.
    • Journal Title

      Am J Med Genet A

      Volume: 164A Issue: 2 Pages: 324-330

    • DOI

      10.1002/ajmg.a.36294

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25460405
  • [Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.2014

    • Author(s)
      Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 9999 Issue: 5 Pages: 1-5

    • DOI

      10.1002/ajmg.a.36433

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24791844, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25462767
  • [Journal Article] 正確性と話題性:必要となる共通認識基盤の形成2013

    • Author(s)
      福嶋義光
    • Journal Title

      日本遺伝カウンセリング学会誌

      Volume: 34 Pages: 39-39

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] 【専門分野における倫理の現状と将来展望】先端医療(遺伝子疾患)遺伝子医療分野における現状と将来展望2013

    • Author(s)
      福嶋義光
    • Journal Title

      臨床倫理

      Volume: 1 Pages: 38-40

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] Follow- up nationwide survey on predictive genetic testing for late- onset hereditary neurological diseases in Japan2013

    • Author(s)
      Keiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, Mariko Tamai, Tomoki Kosho, Akihiro Sakurai, Keiko Wakui, Shu- ichi Ikeda, Yoshimitsu Fukushima
    • Journal Title

      Journal of Human Genetics

      Volume: 58 Pages: 560-563

    • NAID

      10031195287

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] 希少難病対策に必要な遺伝医療ネットワーク構築2013

    • Author(s)
      福嶋義光
    • Journal Title

      日本遺伝カウンセリング学会誌

      Volume: 34 Pages: 33-33

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] 小児科診療における臨床遺伝医療と遺伝カウンセリング遺伝学的検査を考えたら2013

    • Author(s)
      福嶋義光
    • Journal Title

      小児科診療

      Volume: 76 Pages: 1041-1045

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan2013

    • Author(s)
      Tanaka K, Sekijima Y, Yoshida K, Tamai M, Kosho T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 8 Pages: 560-563

    • DOI

      10.1038/jhg.2013.34

    • NAID

      10031195287

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591237, KAKENHI-PROJECT-23613004
  • [Journal Article] Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.2013

    • Author(s)
      Keiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, Mariko Tamai, Tomoki Kosho, Akihiro Sakurai, Keiko Wakui, Shu-ichi Ikeda, Yoshimitsu Fukushima
    • Journal Title

      Journal of Human Genetics

      Volume: 58

    • NAID

      10031195287

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.2013

    • Author(s)
      Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Oh-Ishi T, Kawame H, Narumi Y, Ohashi H, Fukushima Y
    • Journal Title

      American Journal of Medical Genetics, Part A

      Volume: 164A Issue: 3 Pages: 597-609

    • DOI

      10.1002/ajmg.a.36308

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23613004, KAKENHI-PROJECT-25460405
  • [Journal Article] 難治性疾患克服研究事業と遺伝カウンセリング2013

    • Author(s)
      福嶋義光
    • Journal Title

      日本遺伝カウンセリング学会誌

      Volume: 33 Pages: 181-184

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization2012

    • Author(s)
      Kawamura, R., Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
    • Journal Title

      Chromosome Res.

      Volume: 20

    • NAID

      120006576054

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Journal Article] 難治性疾患克服研究事業と遺伝カウンセリング2012

    • Author(s)
      福嶋義光
    • Journal Title

      Jpn J Genet Counsel

      Volume: 33: Pages: 181-184

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
  • [Journal Article] 個別化医療実現に向けたイノベーションと課題個別化医療実現に向けた医療倫理2012

    • Author(s)
      福嶋義光
    • Journal Title

      日本体質学会雑誌

      Volume: 74 Pages: 41-45

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] 小児科医が知っておくべき遺伝医学関連のガイドライン・見解2012

    • Author(s)
      福嶋義光
    • Journal Title

      小児科

      Volume: 53 Pages: 505-511

    • NAID

      40019258504

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.2012

    • Author(s)
      Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K.
    • Journal Title

      Chromosome Res.

      Volume: 20 Issue: 6 Pages: 659-672

    • DOI

      10.1007/s10577-012-9300-5

    • NAID

      120006576054

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659156, KAKENHI-PUBLICLY-23125505
  • [Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome : observation of two additional patients and comprehensive review of 20 reported patients2011

    • Author(s)
      Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T
    • Journal Title

      Am J Med Genet A

      Volume: 155A Issue: 8 Pages: 949-1958

    • DOI

      10.1002/ajmg.a.34115

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591442, KAKENHI-PROJECT-23689052
  • [Journal Article] 臨床遺伝医療2011

    • Author(s)
      福嶋義光
    • Journal Title

      BIO Clinica

      Volume: 26 Pages: 271-275

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] 遺伝医療の基盤整備・均てん化2011

    • Author(s)
      福嶋義光
    • Journal Title

      医学のあゆみ

      Volume: 237 Pages: 803-805

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] 遺伝子研究・診断・治療の倫理2011

    • Author(s)
      福嶋義光
    • Journal Title

      月刊糖尿病

      Volume: 3 Pages: 114-119

    • Data Source
      KAKENHI-PROJECT-23613004
  • [Journal Article] GlcNAc6ST-1-mediated decoration of MAdCAM-1 protein with L-selectin ligand carbohydrates directs disease activity of ulcerative colitis2009

    • Author(s)
      Kobayashi M, Hoshino H, Masumoto J, Fukushima M, Suzawa K, Kageyama S, Suzuki M, Ohtani H, Fukuda M, Nakayama J
    • Journal Title

      Inflamm Bowel Dis

      Volume: 15 Issue: 5 Pages: 679-706

    • DOI

      10.1002/ibd.20827

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104
  • [Journal Article] 臨床遺伝専門医・認定遺伝カウンセラーとその制度(特集 : 小児科医のための遺伝学)2008

    • Author(s)
      山内泰子, 福嶋義光
    • Journal Title

      小児内科 40

      Pages: 1283-1288

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] 内科医のための遺伝医学基礎知識(2)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      日内会誌 97

      Pages: 3093-3100

    • NAID

      10024933198

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] De-novo balanced translocation between 7q31 and 10p14 ina girl with central precocious puberty, moderate mental retardation, and severe speech impairment.2008

    • Author(s)
      Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y.
    • Journal Title

      Clin Dysmorphol 17

      Pages: 31-34

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] 内科医のための遺伝医学甚礎知識(1)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      日内会誌 97

      Pages: 2832-2837

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p362008

    • Author(s)
      Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matumoto N, Kato M, Wakui K, Fukushima Y
    • Journal Title

      Am J Med Genet 16A

      Pages: 2891-2897

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 内科医のための遺伝医学基礎知識(2)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      日内会誌 97

      Pages: 3093-3100

    • NAID

      10024933198

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] 臨床遺伝専門医・認定遺伝カウンセラーとその制度.(特集 : 小児科医のための遺伝学)2008

    • Author(s)
      山内泰子, 福嶋義光
    • Journal Title

      小児内科 40

      Pages: 1283-1288

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.2008

    • Author(s)
      Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y
    • Journal Title

      Clin Dysmorphol 17

      Pages: 31-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment2008

    • Author(s)
      Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsu moto N. Fukushima Y
    • Journal Title

      Clin Dysmorphol 17

      Pages: 31-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 内科医のための遺伝医学基礎知識(1)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      日内会誌 97

      Pages: 2832-2837

    • NAID

      10024420894

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] 臨床遺伝専門医・認定遺伝カウンセラーとその制度. (特集 : 小児科医のための遺伝学)2008

    • Author(s)
      山内泰子, 福嶋義光
    • Journal Title

      小児内科 40

      Pages: 1283-1288

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 内科医のための遺伝医学基礎知識(2)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      口内会誌 97

      Pages: 3093-3100

    • NAID

      10024933198

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment2008

    • Author(s)
      Kosho, T., Sakazume, S., Kawame, H., Wakui, K., Wada, T., Okoshi, Y., Mikawa, M., Hasegawa, T., Matsuura, N., Niikawa, N., Matsumoto, N., Fukushima, Y
    • Journal Title

      Clin Dysmorphol 17

      Pages: 31-34

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] Nation wide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan2007

    • Author(s)
      Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
    • Journal Title

      J Hum Genet 52

      Pages: 675-679

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] Long-term follow-up of patients with multiple endocrine neoplasia type 12007

    • Author(s)
      Sakurai A, Katai M, Yamashita K, Mori J, Fukushima Y, Hashizume K
    • Journal Title

      Endocrine Journal 54

      Pages: 295-302

    • NAID

      10019478820

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes2007

    • Author(s)
      Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimuth, G., Kato, H., Fukushima, Y
    • Journal Title

      Am J Med Genet 43A

      Pages: 2598-2603

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in awoman with severe progressive skeletal changes.2007

    • Author(s)
      Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y.
    • Journal Title

      Am J Med Genet 43A

      Pages: 2598-2603

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] The International HapMap Consortium,Community engagement and informed consent in the International HapMap project2007

    • Author(s)
      Rotimi C, Leppert M, Fukushima Y(, 他16名, 10番目)
    • Journal Title

      Community Genet 10

      Pages: 186-198

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 【臨床遺伝学 診療に必要な最新情報】産婦人科診療での臨床遺伝専門医と認定遺伝カウンセラーの役割2007

    • Author(s)
      山内泰子, 金井誠, 福嶋義光
    • Journal Title

      臨床婦人科産科(0386-9865) 61巻9号

      Pages: 1106-1113

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] 遺伝学的検査実施時のガイドライン2007

    • Author(s)
      福嶋義光
    • Journal Title

      綜合臨床 56(2)

      Pages: 361-362

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] A genomewide linkage analysis of Kawasaki disease : evidence for linkage to chromosome 122007

    • Author(s)
      Onouchi, Y., Tamari, M., Takahashi, A., Tsunoda, T., Yashiro, M., Nakamura, Y., Yanagawa, H., Wakui, K., Fukushima, Y., Kawasaki, T., Nakamura, Y., Hata, A
    • Journal Title

      J Hum Genet 52

      Pages: 179-190

    • NAID

      10018514642

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] The International HapMap Consortium, Community engagement and informed consent in the International HapMap project.2007

    • Author(s)
      Rotimi C, Leppert M, Fukushima Y, (他, 16名, 10番目)
    • Journal Title

      Community Genet. 10

      Pages: 186-98

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] A second generation human haplotype map of over 3. 1 million SNPs.2007

    • Author(s)
      The International HapMap Consortium (composed of 72 institutes, including Fukushima Y)
    • Journal Title

      Nature 449

      Pages: 851-861

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.2007

    • Author(s)
      Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y.
    • Journal Title

      Am J Med Genet 43A

      Pages: 2598-2603

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.2007

    • Author(s)
      Onouchi Y, Tamari M, Takahashi A, Tsunoda T, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kawasaki T, Nakamura Y, Hata A.
    • Journal Title

      J Hum Genet 52

      Pages: 179-190

    • NAID

      10018514642

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Journal Article] A second generation human haplotype map of over 3.1 million SNPs.2007

    • Author(s)
      The International HapMap Consortium(composed of 72 institutes, including Fukushima Y)
    • Journal Title

      Nature 449

      Pages: 851-861

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Long-term follow-up of patients with multiple endocrine neoplasia type12007

    • Author(s)
      Sakurai A, Katai M, Yamashita K, Mori J, Fukushima Y, Hashizume K
    • Journal Title

      Endocrine Journal 54

      Pages: 295-302

    • NAID

      10019478820

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Nation wide survey on predictive genetic testing for late-onset,incurable neurological diseases in Japan2007

    • Author(s)
      Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
    • Journal Title

      J Hum Genet 52

      Pages: 675-679

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 近親婚のリスクと遺伝カウンセリング2007

    • Author(s)
      和田敬仁, 福嶋義光
    • Journal Title

      日本医事新報 4338

      Pages: 96-97

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes2007

    • Author(s)
      Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y
    • Journal Title

      Am J Med Genet 43A

      Pages: 2598-2603

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 遺伝学的検査に関する注意点2007

    • Author(s)
      涌井敬子, 福嶋義光
    • Journal Title

      検査と技術 35(2)

      Pages: 162-165

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.2006

    • Author(s)
      Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou J-W, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.
    • Journal Title

      Am J Med Genet 140A

      Pages: 291-293

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Neonatal management of trisomy 18 : Clinical details of 24 patients receiving intensive treatment.2006

    • Author(s)
      Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y
    • Journal Title

      Am J Med Genet 140A

      Pages: 937-944

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Neonatal management of trisomy 18 : Clinical details of 24 patients receiving intensive treatment.2006

    • Author(s)
      Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y
    • Journal Title

      Am J Med Genet 140A

      Pages: 937-944

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] A new detection method for ATRX gene mutations using a mismatch-specific endonuclease2006

    • Author(s)
      Wada T, Fukushima Y, Saitoh S
    • Journal Title

      Am J Med Genet 140A

      Pages: 1519-1523

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation.2006

    • Author(s)
      Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N.
    • Journal Title

      Am J Med Genet 140A

      Pages: 205-211

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] 出生前遺伝カウンセリングのあり方(特集 : 出生前診断を考える)2006

    • Author(s)
      福嶋義光
    • Journal Title

      産科と婦人科 73

      Pages: 825-830

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] A new detection method for ATRX gene mutations using a mismatch-specific endonuclease2006

    • Author(s)
      Wada T, Fukushima Y, Saitoh S
    • Journal Title

      Am J Med Genet 140A

      Pages: 1519-1523

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 新生児医療に必須の遺伝カウンセリングの基礎知識2006

    • Author(s)
      福嶋義光
    • Journal Title

      日本未熟児新生児学会雑誌 18

      Pages: 17-22

    • NAID

      10017553698

    • Data Source
      KAKENHI-PROJECT-18612003
  • [Journal Article] 遺伝カウンセリングとその基本的事項2005

    • Author(s)
      古庄知己, 福嶋義光
    • Journal Title

      小児科 46

      Pages: 909-915

    • Data Source
      KAKENHI-PROJECT-16790607
  • [Journal Article] 医学教育における遺伝カウンセリング・ロールプレイ実習.2005

    • Author(s)
      櫻井晃洋, 古庄知己, 和田敬仁, 涌井敬子, 川目裕, 玉井眞理子, 福嶋義光
    • Journal Title

      家族性腫瘍 5

      Pages: 51-56

    • NAID

      130007539463

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Guidelines on Genetic Testing.2005

    • Author(s)
      Fukushima Y
    • Journal Title

      JMAJ(Japan Medical Association Journal) 48

      Pages: 429-431

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.2005

    • Author(s)
      Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y
    • Journal Title

      Am J Med Genet 138A

      Pages: 282-287

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Guidelines on Genetic Testing.2005

    • Author(s)
      Fukushima Y
    • Journal Title

      JMAJ (Japan Medical Association Journal) 48

      Pages: 429-431

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 多因子遺伝病研究と診療の倫理問題.2005

    • Author(s)
      福嶋義光
    • Journal Title

      最新医学 60

      Pages: 2200-2207

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] A large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.2005

    • Author(s)
      Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K
    • Journal Title

      Am J Med Genet A133

      Pages: 13-17

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] 遺伝子診療(遺伝子医療)体制の整備 現状と課題(連載10「遺伝子診断の最前線」)2005

    • Author(s)
      福嶋義光, 櫻井晃洋
    • Journal Title

      医学の歩み 213

      Pages: 1135-1139

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] A haplotype map of the human genome.2005

    • Author(s)
      The International HapMap Consortium(173 persons including Fukushima Y)
    • Journal Title

      Nature 437

      Pages: 1299-1320

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X) : X-inactivation study of nine female carriers of ATR-X.2005

    • Author(s)
      Wada T, Sugie H, Fukushima Y, Saitoh S
    • Journal Title

      Am J Med Genet 138A

      Pages: 18-20

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] A haplotype map of the human genome.2005

    • Author(s)
      The International HapMap Consortium (173 persons including Fukushima Y)
    • Journal Title

      Nature 437

      Pages: 1299-1320

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] 遺伝子解析に関する指針・ガイドライン(日本臨床増刊号:遺伝子診療学-遺伝子診断の進歩と遺伝子治療の展望-).2005

    • Author(s)
      福嶋義光
    • Journal Title

      日本臨床 63(増刊号12)

      Pages: 9-15

    • Data Source
      KAKENHI-PROJECT-17019025
  • [Journal Article] A large deletion involving the 5'-UTR in the spastin gene caused mild phenotyp of autosomal dominant hereditary spastic paraplegia2005

    • Author(s)
      Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K
    • Journal Title

      American Journal of Medical Genetics 133A

      Pages: 13-17

    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] 遺伝カウンセリングって何2004

    • Author(s)
      古庄知己, 福嶋義光
    • Journal Title

      母子保健 542

      Pages: 7-7

    • Data Source
      KAKENHI-PROJECT-16790607
  • [Journal Article] Japanese SCA families with a distinct phenotype linked to a locus overlapping with SCA15 locus2004

    • Author(s)
      Hara, K, Fukushima, T, Suzuki, T, Shimohata, T, Oyake, M, Ishiguro, H, Hirota, K, Miyashita, A, Kuwano, R, Kurisaki, H, Yomono, H, Goto, J, Kanazawa, I, Tsuji, S
    • Journal Title

      Neurol 62

      Pages: 648-651

    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Fifty microdeletions among 112 cases of Sotos syndrome : Low copy repeats possibly mediate the common deletion.2003

    • Author(s)
      Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J-F, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N
    • Journal Title

      Hum Mut 22(5)

      Pages: 378-387

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Sotos syndrome and haploinsufficiency of NSD1 : Clinical features of intragenic mutations and submicroscopic deletions.2003

    • Author(s)
      Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K
    • Journal Title

      J Med Genet 40(4)

      Pages: 285-289

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Haploinsufficiency of the NSD1 gene causes Sotos syndrome.2002

    • Author(s)
      Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N
    • Journal Title

      Nat Genet 30(April)

      Pages: 365-366

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.2001

    • Author(s)
      Miyoshi O, Yabe R, Wakui K, Koizumi S, Uchikawa M, Kajii T, Fukushima Y, Numakura C, Takahashi S, Hayasaka K, Niikawa N
    • Journal Title

      Am J Med Genet 104

      Pages: 250-256

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Presentation] CNVs情報を基に選択したBACクローンのプローブミックスによる染色体分裂像多色FISH解析~複雑構造異常染色体・構造異常染色体モザイクの同定~2019

    • Author(s)
      涌井敬子,羽田明,朽方豊夢,水野誠司,古庄知己,福嶋義光
    • Organizer
      第41回日本小児遺伝学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K00481
  • [Presentation] 信州大学医学部附属病院遺伝子医療研究センター知的障害(ID)外来の取り組み2017

    • Author(s)
      高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、西恵理子、笛木昇、山口智美、涌井敬子、柳久美子、要匡、秦健一郎、古庄知己、福嶋義光
    • Organizer
      第59回日本小児神経学会学術集会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2017-06-15
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] SHANK3遺伝子変異を認めた1女児例2016

    • Author(s)
      高野亨子、古庄知己、涌井敬子、福嶋義光
    • Organizer
      第58回日本小児神経学会学術集会
    • Place of Presentation
      京王プラザホテル新宿(東京都)
    • Year and Date
      2016-06-03
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] 肝脾腫を呈したCoffin-Siris症候群の1男児例2016

    • Author(s)
      高野亨子、本林光雄、山口智美、涌井敬子、稲葉雄二、古庄知己、福嶋義光
    • Organizer
      第39回日本小児遺伝学会学術集会
    • Place of Presentation
      慶應義塾大学(東京都)
    • Year and Date
      2016-12-09
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] 知的障害(Intellectual Disability: ID)外来~2年間の成果~2016

    • Author(s)
      髙野亨子、古庄知己、福嶋義光
    • Organizer
      第8回日本小児科学会長野地方会
    • Place of Presentation
      上田市文化会館ホール/中央公民館(上田市)
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] 信州大学医学部附属病院遺伝子診療部知的障害(ID)外来の取り組み~第2報~2016

    • Author(s)
      高野亨子、神谷素子、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、古庄知己、福嶋義光
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(札幌市)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] Hepatosplenomegaly as the initial manifestation of Coffin-Siris syndrome caused by an ARID1B mutation.2016

    • Author(s)
      Kyoko Takano, Mitsuo Motobayashi, Tomomi Yamaguchi, Keiko Wakui, Yuji Inaba, Yoshimitsu Fukushima, Tomoki Kosho
    • Organizer
      第66回米国人類遺伝学会
    • Place of Presentation
      バンクーバーコンベンションセンター(カナダ)
    • Year and Date
      2016-10-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] Collection and analysis of genetics-related words posted on social media in Japan.2016

    • Author(s)
      Maruyama Y, Fukushima Y, Sakurai A
    • Organizer
      ACMG Annual Clinical Genetics Meeting
    • Place of Presentation
      米国タンパ市
    • Year and Date
      2016-03-08
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25460615
  • [Presentation] Genetic evaluation of patients with intellectual disability (ID) using chromosomal microarray and targeted next-generation sequencing at the “ID clinic”2016

    • Author(s)
      Kyoko Takano, Tomoki Kosho, Keiko Wakui, Motoko Kamiya, Mitsuo Motobayashi, Naoko Shiba, Tetsuhiro Fukuyama, Noboru Fueki, Shinichi Hirabayashi, Eriko Nishi, Masumi Ishikawa, Emiko Kise, Tomomi Yamaguchi, Rie Kawamura, Yuji Inaba, Yoshimitsu Fukushima
    • Organizer
      ICHG 2016
    • Place of Presentation
      京都国際会館(京都市)
    • Year and Date
      2016-04-04
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] Xp21欠失女性症例における不活化X染色体解析  ―構造異常X染色体を識別するRNA/DNA-FISH解析―2015

    • Author(s)
      河村 理恵,伊波若葉,福嶋 義光,涌井 敬子
    • Organizer
      日本人類遺伝学会第60回大会
    • Place of Presentation
      京王プラザホテル(新宿・東京)
    • Year and Date
      2015-10-14
    • Data Source
      KAKENHI-PROJECT-15K08330
  • [Presentation] β-propeller protein-associated neurodegeneration (BPAN)の1女児例2015

    • Author(s)
      高野亨子、柴直子、本林光雄、稲葉 雄二、福嶋 義光
    • Organizer
      第57回日本小児神経学会学術集会
    • Place of Presentation
      帝国ホテル大阪(大阪市)
    • Year and Date
      2015-05-28
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] Two patients diagnosed with BPAN in infancy.2015

    • Author(s)
      Kyoko Takano, Naoko Shiba, Kazuya Goto, Tomomi Yamaguchi, Keiko Wakui, Tomoki Kosho, Yuji Inaba, Yoshimitsu Fukushima
    • Organizer
      ASHG 2015
    • Place of Presentation
      Baltimore(米国)
    • Year and Date
      2015-10-06
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] Establishment of a single-cell RNA/DNA-FISH method for detecting inactivation patterns of structural X chromosome abnormalities2015

    • Author(s)
      Rie KAWAMURA, Wakaba IHA, Yoshimitsu FUKUSHIMA, Keiko WAKUI
    • Organizer
      第10回European Cytogenetics Conference
    • Place of Presentation
      ストラスブール(フランス)
    • Year and Date
      2015-07-04
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K08330
  • [Presentation] 信州大学医学部附属病院遺伝子診療部知的障害(ID)外来開設1年間の成果 -遺伝学的背景・臨床症状の検討-2015

    • Author(s)
      高野亨子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、石川真澄、黄瀬恵美子、山口智美、河村理恵、涌井敬子、古庄知己、福嶋義光
    • Organizer
      第38回日本小児遺伝学会学術集会
    • Place of Presentation
      パシフィコ横浜会議センター(横浜市)
    • Year and Date
      2015-07-25
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] 信州大学医学部附属病院遺伝子診療部知的障害(ID)外来受診患者の遺伝学的背景・臨床症状の検討2015

    • Author(s)
      高野亨子、古庄知己、涌井敬子、神谷素子、石川真澄、黄瀬恵美子、山口智美、河村理恵、西恵理子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、福嶋義光
    • Organizer
      日本人類遺伝学会第60回大会
    • Place of Presentation
      京王プラザホテル(東京都)
    • Year and Date
      2015-10-14
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] Visualization of XIST expression in a female with structural X chromosome abnormality : Single-cell analysis by three-color interphase RNA-FISH2014

    • Author(s)
      Iha, W., Kawamura, R., Yamaguchi, T., Fukushima, Y., Wakui, K(代表)
    • Organizer
      European Human Genetics Conference 2014
    • Place of Presentation
      Milano, Italy
    • Year and Date
      2014-06-01
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] Establishment and Validation of iPS Cells and Knockout Mice for dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS)2013

    • Author(s)
      Kosho T, Yue F, Saka S, Tsumita N, Kasahara Y, Okada T, Mizumoto S, Kobayashi M, Nakayama J, Miyake N, Nomura Y, Era T, Hatamochi A, Fukushima Y, Matsumoto N, Sugahara K, Sasaki K, Takeda S
    • Organizer
      American Society of Human Genetics 63nd Annual Meeting
    • Place of Presentation
      Boston Convention Center, Boston, USA
    • Data Source
      KAKENHI-PROJECT-25460405
  • [Presentation] デルマタン4-O-硫酸基転移酵素(D4ST1)欠損によるEhlers-Danlos症候群(DDEDS)の疾患モデルの構築と検証2013

    • Author(s)
      古庄知己、岳鳳鳴、坂翔太、積田奈々、笠原優子、岡田尚巳、水本秀二、小林身哉、中山淳、三宅紀子、野村義宏、江良択実、籏持淳、石川真澄、涌井敬子、福嶋義光、松本直通、菅原一幸、佐々木克典、武田伸一
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      江陽グランドホテル(宮城県仙台市)
    • Data Source
      KAKENHI-PROJECT-25460405
  • [Presentation] ともに考えよう遺伝医療とメディアがスクラムを組んで国民のためにできる事正確性と話題性必要となる共通認識基盤の形成2013

    • Author(s)
      福嶋義光
    • Organizer
      第37回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      川崎
    • Year and Date
      2013-06-22
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Presentation] 疾病中心から患者中心の希少難治性疾患研究を可能とする患者支援団体と専門家集団とのネットワーク構築2012

    • Author(s)
      福嶋義光, 松原洋一, 野村文夫, 斎藤加代子, 高田史男, 小杉眞司, 玉置知子, 櫻井晃洋, 関島良樹, 涌井敬子, 加藤光広, 小泉二郎
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      幕張
    • Year and Date
      2012-10-24
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の 発現パターン解析2012

    • Author(s)
      河村 理恵、 齋藤 伸治、田辺 秀之、和田 敬仁、福嶋 義光、涌井 敬子
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization2012

    • Author(s)
      Kawamura, R.(代表), Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
    • Organizer
      European Human Genetics Conference 2012
    • Place of Presentation
      Nürnberg, Germany
    • Year and Date
      2012-06-24
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization2012

    • Author(s)
      Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K.
    • Organizer
      European Human Genetics Conference 2012
    • Place of Presentation
      Nurnberg, Germany
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] 難治性疾患克服研究事業と遺伝カウンセリング2012

    • Author(s)
      福嶋義光
    • Organizer
      第36回日本遺伝カウンセリング学会
    • Place of Presentation
      松本
    • Year and Date
      2012-06-08
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の発現パターン解析2012

    • Author(s)
      河村理恵(代表),齋藤伸治,田辺秀之,和田敬仁,福嶋義光,涌井敬子
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Year and Date
      2012-10-27
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] 3D-FISH法による15q11.2-q12領域の細胞核内配置の解析2010

    • Author(s)
      河村理恵, 涌井敬子, 田辺秀之, 和田敬仁, 斉藤伸治, 福嶋義光
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      埼玉
    • Year and Date
      2010-10-28
    • Data Source
      KAKENHI-PROJECT-20590328
  • [Presentation] 3D-FISH法による15q11.2-q12領域の細胞核内配置の解析2010

    • Author(s)
      河村理恵, 涌井敬子, 田辺透之, 和田敬仁, 斉藤伸治, 福嶋義光
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Year and Date
      2010-10-28
    • Data Source
      KAKENHI-PROJECT-20590328
  • [Presentation] 3D-FISH法による細胞核内染色体テリトリー計測における細胞周期の影響にいて2009

    • Author(s)
      河村理恵, 涌井敬子, 和田敬仁, 田辺秀之, 福嶋義光
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-20590328
  • [Presentation] 3D-FISH法における細胞核内染色体間距離の計測について2009

    • Author(s)
      涌井敬子, 河村理恵, 和田敬仁, 田辺透之, 福嶋義光
    • Organizer
      定量生物の会第1回キャラバン遺伝研
    • Place of Presentation
      三島
    • Year and Date
      2009-03-14
    • Data Source
      KAKENHI-PROJECT-20590328
  • [Presentation] 3D-FISH法による細胞核内染色体テリトリー計測における細胞周期の影響について2009

    • Author(s)
      河村理恵, 涌井敬子, 和田敬仁, 田辺透之, 福嶋義光
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-20590328
  • [Presentation] 3D-FISH解析における細胞核内染色体間距離の計測について2009

    • Author(s)
      涌井敬子、河村理恵、和田敬仁、田辺秀之、福嶋義光
    • Organizer
      定量生物学の会第1回キャラバン遺伝研
    • Place of Presentation
      静岡
    • Year and Date
      2009-03-13
    • Data Source
      KAKENHI-PROJECT-19590331
  • [Presentation] 3D-FISH解析における細胞核内染色体間距離の計測について.2009

    • Author(s)
      涌井敬子, 河村理恵, 和田敬仁, 田辺秀之, 福嶋義光.
    • Organizer
      定量生物学の会 第1回キャラバン
    • Place of Presentation
      静岡
    • Year and Date
      2009-03-13
    • Data Source
      KAKENHI-PROJECT-19590331
  • [Presentation] 3D-FISH解析における細胞核内染色体間距離の計測について2009

    • Author(s)
      涌井敬子, 河村理恵, 和田敬仁, 田辺秀之, 福嶋義光
    • Organizer
      定量生物学の会第1回キャラバン遺伝研
    • Place of Presentation
      静岡
    • Year and Date
      2009-03-13
    • Data Source
      KAKENHI-PROJECT-20590328
  • [Presentation] Molecular cytogenetic analysis of subtelomeric regions for a structural abnormalities of chromosome 12 and interpretations of the results2007

    • Author(s)
      Kinishita, Y., Wakui, K., Furui, T., Shinogi, K., Fukui, T., Kawamura, R., Yokoyama, S., Higashi, H., Fukushima, Y
    • Organizer
      The Japan Society of Human Genetics
    • Place of Presentation
      Tokyo
    • Year and Date
      2007-09-13
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] Discrepancies of the results between MLPA and FISH, and between MLPA kits, observed in a case of subtelomeric imbalances of chromosome 122007

    • Author(s)
      Wakui, K., Kinishita, Y., Furui, Y., Shinogi, K., Fukui, T., Kawamura, R., Gonda N., Yokoyama, S., Higashi, H., Fukushima, Y
    • Organizer
      The American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] A case of pure dup 9q34 confirmed by Subtelomeric FISH analyses2007

    • Author(s)
      Imagawa, E., Kosho, T., Matsuda, K., Higuchi, Y., Uhara, M., Yamauchi, K., Katuyama, T., Hidaka, E., Shiba, N., Arai, F., Wakui, K., Fukushima, Y
    • Organizer
      The Japan Society of Human Genetics
    • Place of Presentation
      Tokyo
    • Year and Date
      2007-09-15
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] 12番染色体構造異常例における分子細胞遺伝学的サブテロメアの解析と結果解釈の留意点2007

    • Author(s)
      木下 由子, 涌井 敬子, 古井 陽介, 篠木 加奈, 福井 崇史, 河村 理恵, 横山士郎, 東 央晋, 福嶋 義光
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-13
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] A Ipso deletion syndrome with >10Mb deletion and uncommon clinical features2007

    • Author(s)
      Kawamura, R., Wakui, K., Saito, S., Wada, T., Kato, K., Kosho, T., Fukushima, Y
    • Organizer
      The Japan Society of Human Genetics
    • Place of Presentation
      Tokyo
    • Year and Date
      2007-09-13
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] MLPA法による染色体サブテロメア量的不均衡についての解析結果とその細胞遺伝学的解釈について2007

    • Author(s)
      涌井 敬子, 古井 陽介, 篠木 加奈, 福井 崇史, 河村 理恵, 木下 由子, 古庄 知己, 和田 敬仁, 横山 士郎, 東 央晋, 福嶋 義光
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-15
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] 10Mb以上の欠失と稀な合併症を伴う1p36欠失症候群の一例2007

    • Author(s)
      河村 理恵, 涌井 敬子, 齋藤 章治, 和田 敬仁, 加藤 光広, 古庄 知己, 福嶋 義光.
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-13
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] Discrepancies of the results between MLPA and FISH, and between MLPA kits, observed in a case of subtelomeric imbalances of chromosome 12.2007

    • Author(s)
      Wakui K, Kinishita Y, Furui Y, Shinogi K, Fukui T, Kawamura R, Gondo N, Yokoyama S, Higashi H, Fukushima Y.
    • Organizer
      The American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] MLPA法による染色体サブテロメア量的不均衡についての解析結果とその細胞遺伝学的解釈にっいて2007

    • Author(s)
      涌井 敬子, 古井 陽介, 篠木 加奈, 福井 崇史, 河村 理恵, 木下由子, 古庄 知己, 和田 敬仁, 横山 士郎, 東 央晋, 福嶋 義光
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-15
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] Analytical validity on MLPA method for detecting subtelomeric irnbalances2007

    • Author(s)
      Wakui, K., Furui, Y., Shinogi, K. Fukui, T., Kawamura, R., Kosho, T., Wada, T., Yokoyama, S., Higashi, H., Fukushima, Y
    • Organizer
      The Japan Society of Human Genetics
    • Place of Presentation
      Tokyo
    • Year and Date
      2007-09-15
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] Subtelomeric FISH法により確認されたpure dup 9q34の一例2007

    • Author(s)
      今川 英里, 古庄 知己, 松田 和之, 樋口 由美子, 宇原 美帆, 山内 一由, 勝山努, 日高 惠以子, 柴 直子, 荒井 史, 涌井 敬子, 福嶋 義光
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-15
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590311
  • [Presentation] 難治性疾患克服研究事業と遺伝カウンセリング

    • Author(s)
      福嶋義光
    • Organizer
      第36回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      松本
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Presentation] 遺伝医療に関する最近の話題についての看護職者の認識

    • Author(s)
      山下浩美,櫻井晃洋,玉井真理子,福嶋義光
    • Organizer
      第38回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      大阪府東大阪市(近畿大学)
    • Year and Date
      2014-06-27 – 2014-06-29
    • Data Source
      KAKENHI-PROJECT-25460615
  • [Presentation] A duplication of the CDKL5 gene identified in a boy with developmental delay with autistic behavior, short stature and microcephaly

    • Author(s)
      Kyoko Takano, Takafumi Nishimura, Keiko Wakui, Satoru Takahashi, Yuji Inaba, Tomoki Kosho, Yoshimitsu Fukushima
    • Organizer
      米国人類遺伝学会
    • Place of Presentation
      San Diego Convention Center(米国)
    • Year and Date
      2014-10-18 – 2014-10-22
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] ソーシャルメディアにおける”遺伝子検査“の語られ方

    • Author(s)
      丸山康孝,櫻井晃洋,福嶋義光
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      東京都江戸川区(タワーホール船堀)
    • Year and Date
      2014-11-20 – 2014-11-21
    • Data Source
      KAKENHI-PROJECT-25460615
  • [Presentation] デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群の発見

    • Author(s)
      古庄知己、三宅紀子、福嶋義光
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島国際会議場など(広島県広島市)
    • Data Source
      KAKENHI-PROJECT-25460405
  • [Presentation] 信州大学医学部附属病院遺伝子診療部知的障害(ID)外来開設の試み

    • Author(s)
      高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、古庄知己、福嶋義光
    • Organizer
      日本小児科学会学術集会
    • Place of Presentation
      大阪国際会議場(大阪府)
    • Year and Date
      2015-04-17 – 2015-04-19
    • Data Source
      KAKENHI-PROJECT-26461522
  • [Presentation] D4ST1欠損に基づくEhlers-Danlos症候群の遺伝子解析状況

    • Author(s)
      古庄知己、三宅紀子、福嶋義光、松本直通
    • Organizer
      第36回日本小児遺伝学会
    • Place of Presentation
      エソール広島(広島県広島市)
    • Data Source
      KAKENHI-PROJECT-25460405
  • [Presentation] 疾病中心から患者中心の希少難治性疾患研究を可能とする患者支援団体と専門家集団とのネットワーク構築

    • Author(s)
      福嶋義光,松原洋一,野村文夫,斎藤加代子,高田史男,小杉眞司,玉置知子,櫻井晃洋,関島良樹,涌井敬子,加藤光広,小泉二郎
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-23613004
  • [Presentation] CDKL5遺伝子重複を認めた低身長と小頭症を伴う発達遅滞の男児例

    • Author(s)
      高野 亨子、西村 貴文、涌井 敬子、山口 智美、高橋 悟、稲葉 雄二、古庄 知己、福嶋 義光
    • Organizer
      日本人類遺伝学会59回大会
    • Place of Presentation
      タワーホール船堀(東京都)
    • Year and Date
      2014-11-20 – 2014-11-22
    • Data Source
      KAKENHI-PROJECT-26461522
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  • 149.  木住野 達也
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  • 150.  飛彈 麻里子
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