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YOSHIURA Koichiro  吉浦 孝一郎

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… Alternative Names

YOSHIURA Koh-Ichiro  吉浦 孝一郎

YOSHIURA Kouichiro  吉浦 孝一朗

MISHIMA Hiroyuki  三嶋 博之

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Researcher Number 00304931
Other IDs
Affiliation (Current) 2022: 長崎大学, 原爆後障害医療研究所, 教授
Affiliation (based on the past Project Information) *help 2013 – 2022: 長崎大学, 原爆後障害医療研究所, 教授
2015: 原爆後障害医療研究所, 教授
2015: 長崎大学, 医歯薬学総合研究科人類遺伝学, 教授
2015: 長崎大学, 原爆後障害医療研究所, 助教
2014 – 2015: 長崎大学, 学内共同利用施設等, 教授 … More
2012: 長崎大学, 医歯薬学総合研究科, 教授
2008 – 2012: 長崎大学, 大学院・医歯薬学総合研究科, 教授
2010: 長崎大学, 医歯(薬)学総合研究科, 教授
2009: 長崎大学, 大学院・医歯藥学総合研究科, 教授
2008 – 2009: 長崎大学, 医歯薬学総合研究科, 教授
2007: Nagasaki University, 医歯薬学総合研究科, 准教授
2007: 長崎大学, 医歯薬総合研究科, 准教授
2007: 長崎大学, 大学院・医歯薬学総合研究科, 准教授
2006: 長崎大学, 医学部, 助教授
2005 – 2006: 長崎大学, 医歯薬学総合研究科, 助教授
2005 – 2006: 長崎大学, 大学院医歯薬学総合研究科, 助教授
2003 – 2005: 長崎大学, 大学院・医歯薬学総合研究科, 助教授
1999 – 2002: 長崎大学, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Human genetics / Biological Sciences / Risk sciences of radiation and chemicals / Human genetics / Pathological medical chemistry / Complex Systems Disease Theory / Medium-sized Section 63:Environmental analyses and evaluation and related fields / Basic Section 52020:Neurology-related
Except Principal Investigator
Psychiatric science / Surgical dentistry … More / Human genetics / 膠原病・アレルギー・感染症内科学 / Hematology / Collagenous pathology/Allergology / Basic Section 54020:Connective tissue disease and allergy-related / Biological Sciences / Anthropology / Obstetrics and gynecology / Circulatory organs internal medicine / Pediatrics / Psychiatric science / Otorhinolaryngology / Human genetics / Human pathology / Cardiovascular medicine / System genome science / Embryonic/Neonatal medicine / Orthopaedic surgery / Medium-sized Section 53:Organ-based internal medicine and related fields / Complex systems / Basic Section 49030:Experimental pathology-related / Basic Section 54010:Hematology and medical oncology-related / Basic Section 45060:Applied anthropology-related / Basic Section 49020:Human pathology-related / Basic Section 52030:Psychiatry-related Less
Keywords
Principal Investigator
相関解析 / 変異 / 伝達不平衡テスト / RYK遺伝子 / EPHB2遺伝子 / EPHB3遺伝子 / 口唇裂 / 口蓋裂 / ABCC11 / 耳垢型 … More / 歌舞伎症候群 / 放射線 / DNA変異 / Hmx-1 / Rescue / LAP / LRP / 遺伝子変異 / H-RYK / 変異解析 / p値 / チロシンキナーゼ / IRF6遺伝子 / colony formation assay / 候補遺伝子 / SNP (single nucleotide polymorphism) / TGF-β3 / TDT (transmission disequilibrium test) / QGP-1 / 耳あか遺伝子 / yeast two hybrid system / アポクリン腺 / ABCC11遺伝子 / ゲノム医科学 / 次世代型シーケンサー / エキソンキャプチャー法 / 筋萎縮性側索硬化症 / emulsion PCR / SOLiD / 骨髄異形成症 / 遺伝子座マッピング / 脳動静脈奇形 / 軟口蓋裂 / 分子遺伝学 / 片親性ダイソミー / uniparental disomy / Human Whole Genome SNP6.0 / 全ゲノムシーケンス / Human Whole Genome SNP 6.0 / ゲノム編集 / 線維芽細胞 / エピジェネティクス / ヒストンメチル化 / エピジェネティック変化 / 生物学的測定法 / dUTP / DNAポリメラーゼ / ホモ接合体 / 致死性 / 遺伝的背景 / 神経冠細胞 / Hmx1 / Rescure / in situ Hybridization 法 / 致死性遺伝子 / Homozygote / Lethal / Genetic Background / Neural Crest cell / Camurati-Engelmann症候群 / モデルマウス / 不妊 / 相関解 / Camurati-Engelmann発症群 / Camurati-Engelmann病 / ジーンターゲッティング / キメラマウス / germline transmission / ES細胞 / エクソン4 / Camurati-Engelmann disease / model mouse / infertility / Association study / 先天性眼瞼下垂 / DMBX1遺伝子 / 連鎖解析 / 1番染色体 / 14番染色体 / 不完全浸透 / 眼瞼下垂 / MBX1遺伝子 / OARドメイン / 連座解析 / MBX遺伝子 / OTX3遺伝子 / Congenital hereditary ptosis / DMBX1 gene / linkage analysis / chromosome 1 / chromosome 14 / incomplete penetrance / ABCトランスポーター / 乳ガン / 薬剤耐性 / earwax / ABCC / ABC transporter / breast cancer / 転写産物 / 5'末端 / switching 法 / 虹彩 / 眼 / 全長RNA / 新規遺伝子 / 5'転写開始点 / 次世代シーケンサー / 組織特異的転写物 / 細胞特異的転写物 / 転写開始点 / cDNA / tag カウント / switching / concatamerization / ヒトパピローマウイルス / ウイルスゲノム / 子宮頸がん / コピー数 / 長期フォローアップ / 予後予測因子 / 予測因子 / HPVウイルス / HPV型 / ヒトゲノム / 相互作用 / ヒトパピロマウイルス / 塩基配列決定 / 型判定 / 予後予測 / Huma Papilloma Virus / Capture / L1 / シーケンス / 濃縮 / ウイルス / 一塩基変異 / 欠失 / 残存変異 / 不死化ヒト正常細胞 / 変異導入率 / ショートリードNGS / 不死化ヒト正常線維芽細胞 / DNA二本鎖切断 / ロングリードNGS / 定量的測定 / ショートリード次世代シークエンサー / ロングリード次世代シークエンサー / ゲノム / ロングリードシーケンサー / 構造異常 / 水頭症 / 認知症 / 上衣細胞 / 運動毛（motile cilia） / CFAP43 / 運動繊毛 / 遺伝子発現プロファイル … More
Except Principal Investigator
遺伝子 / 連鎖解析 / ゲノム / 次世代シークエンサー / 関連解析 / 染色体 / 遺伝子解析 / 遺伝子多型 / 発達障害 / 自己炎症疾患 / 遺伝学 / 遺伝子変異 / 骨髄異形成症候群 / 放射線 / 原爆被爆者 / 自閉スペクトラム症 / ゲノム編集 / 染色体異常 / 疾患遺伝子 / 多因子疾患 / 歌舞伎症候群 / 先天異常 / 口唇裂 / 口蓋裂 / バンキング / ソトス症候群 / 自己炎症 / ヒトゲノム / 内科 / マイクロアレイ / 精神疾患 / ブルガダ症候群 / 全エクソン解析 / エクソーム解析 / 統合失調症 / 家系研究 / DNAメチル化 / 遺伝性難聴 / WFS1遺伝子 / linkage analysis / 下顎前突症 / ハプロタイプ解析 / 心臓突然死 / 致死性不整脈 / iPS細胞 / 口唇口蓋裂 / DNA / 血清バイオマーカー / 甲状腺 / 単因子疾患 / 疾患感受性遺伝子 / 因子疾患 / 多指趾症 / 合指症 / 遺伝子単離 / 特発性手掌多汗症 / 一過性運動誘発性コレオアテトーシス / 染色体構造異常 / 家族性心房中隔欠損症 / Kabuki make-up症候群 / 精神遅滞症 / 分子遺伝学 / ABCC11遺伝子 / 耳垢型 / 乳がん / 初乳量 / 腋窩臭症 / ABCC11アレルの全国地図 / 弥生人骨 / 耳垢型遺伝子 / 古代DNA / NSD1 / 常染色体劣性遺伝 / 中條病 / 遺伝子連鎖分析 / 疾患責任遺伝子 / ジーンチップアレイ / 突然変異 / スクリーニング / PCR / 融解曲線 / TRAPS / 習慣性流産 / 習慣性不育症 / コピー数変化 / real time PCR / Gene Chip解析 / ヒト正常形質 / 遺伝形質 / 多型 / 生体分子 / プロテアソーム / 肥大性骨関節症 / 発熱 / 自己炎症症候群 / 稀少変異仮説 / ホモ接合マッピング / Runs of homozygosity / GWAS / SCN10A / エクソーム / SCN5A / 突然死 / イオンチャネル / 原爆被ばく / ゲノム異常 / 造血器腫瘍 / ゲノム科学 / 放射線生物学 / 大家系 / ARMS / 次世代シーケンサー / 神経発達症群 / Gillespie症候群 / 小脳萎縮 / 虹彩欠損 / 自閉症 / 一卵性双生児 / メチル化 / エピジェネティックス / RLGS法 / FRGP法 / AUTISM / MONOZYGOTIC TWINS / METHYLATION / EPIGENETICS / RLGS (Restriction Landmark Genome Scanning) / FRGP (Fluorescent Representational Genomic Profiling) / 低音障害型感音難聴 / WFSI遺伝子 / 位置的候補遺伝子解析 / 低温障害型感音難聴 / 低音障害型難聴 / genotype analysis / hereditary hearing loss / low frequency sensorineural hearing loss / WFS1 gene / positional candidate gene approach / 遺伝子病 / 遺伝子マッピング / 遺伝病家系 / 家族性心房中核欠損症 / 多汗症 / 無嗅覚症 / 心房中隔欠損症 / 家族性側索硬化症 / 無臭覚症 / 緊張性四肢麻痺 / 疾患遺伝子座 / 単一遺伝子疾患 / マイクロサテライトマーカー / 変異解析 / 疾病遺伝子 / ITGA3B遺伝子 / single-gene disorders / gene mapping / disease genes / familial cases of genetic diseases / 日本人 / 候補遺伝子 / 多型解析 / 血液 / Japanese / Mandibular prognathism / Gene / Linkage analysis / 放射線影響研究 / 放射線発癌 / 腫瘍組織バンク / 遺伝子不安定性 / Na-Ca交換体 / トランスポータ / 早期再分極症候群 / QT短縮症候群 / J波 / パッチクランプ / コンピュータシミュレーション / Na/Ca交換体 / 心室細動 / カルモジュリン / 分子心臓学 / バイオインフォマティクス / ワークフロー / データベース生物学 / Ruby / TogoWS / REST API / UCSCゲノムデータベース / 骨破壊 / 関節 / 次世代 / Beckwith-Wiedemann症候群 / 片親性ダイソミー / ゲノムワイド父性ダイソミー / メチル化解析 / 父性ダイソミー / エピジェネティック / 全ゲノム父性ダイソミー / インプリント疾患 / Beckwith-Wiedemann 症候群 / ミッシングヘリタビリティー / 希少変異仮説 / ミッシング・ヘリタビリティー / TDT / 成人発症スチル病 / IL-1β / IL-18 / 成人スチル病 / 前エクソン解析 / 免疫学 / トランスレーショナルリサーチ / ヒストンメチル化酵素 / ゲノムインプリンティング / 遺伝子発現 / 国際協力 / 注意欠如・多動症 / 神経発達症 / 全エクソンシーケンス / rare-risk variant / ADHD / Familial study / MSPA / カムラチ-エンゲルマン病 / TGF-β1 / カムラチ・エンゲルマン病 / 患者iPS細胞 / 骨系統疾患 / カムラチ・エンゲルマン病( / CRISPR/Cas9法 / 単一塩基多型 / ゲノムワイド関連解析 / COX回帰解析 / 個別化予防医療 / COX比例ハザード解析 / ポリジェニックリスクスコア / 一塩基多型 / 生存曲線 / 多遺伝子リスクスコア / Kaplan-Meier解析 / ヤポネシア人 / 現代人ゲノム / ゲノム進化 / オキナワ人 / ヤマト人 / ヤポネシア / 現代ゲノム / 人類進化 / 日本列島人 / ゲノム多様性 / うちなる二重構造 / ヤホネシア人 / 家族性地中海熱 / バイオマーカー / 全ゲノム解析 / MEFV遺伝子 / インフラマソーム / 24k-HUPA / Radiation-induced cancer / Animal model / Thyroid cancer / Atomic bomb survivors / Radiation signature / 変異シグネチャー / 放射線誘発造血器腫瘍 / 原爆放射線 / ゲノム変異 / HTLV-1 / 分子系統解析 / コホート研究 / 濾胞性腫瘍 / 細胞診 / p53 binding protein-1 / EP400 / 遺伝的オーバーラップ / エピジェネティクス Less

  • Research Projects

    (58 results)

  • Research Products

    (667 results)

  • Co-Researchers

    (248 People)

  •  甲状腺濾胞性腫瘍の術前細胞診断を可能とする53BP1発現型の定量解析

    • Principal Investigator
      松田 勝也
    • Project Period (FY)
      2022 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 49020:Human pathology-related
    • Research Institution
      Nagasaki University

  •  Elucidation of the pathophysiology of schizophrenia / autism spectrum disorder using EP400 gene transgenic mice

    • Principal Investigator
      今村 明
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52030:Psychiatry-related
    • Research Institution
      Nagasaki University

  •  HTLV-1の分子系統別疾患感受性の解明と層別化コホート研究の構築

    • Principal Investigator
      前田 隆浩
    • Project Period (FY)
      2021 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 45060:Applied anthropology-related
    • Research Institution
      Nagasaki University

  •  Comprehensive identification of responsible regulatory molecules that define the seizure periodicity and inflammatory diversity of autoinflammatory diseases

    • Principal Investigator
      増本 純也
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 54020:Connective tissue disease and allergy-related
    • Research Institution
      Ehime University

  •  Comprehensive molecular pathologic analyses during radiation-induced thyroid carcinogenesis: miRNA and mutation signature

    • Principal Investigator
      中島 正洋
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 49030:Experimental pathology-related
    • Research Institution
      Nagasaki University

  •  Hydrocephalus and Dementia due to motile cilia dysfunctionPrincipal Investigator

    • Principal Investigator
      吉浦 孝一郎
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Nagasaki University

  •  Study for the mechanism of onset for myelodysplastic syndromes among atomic bomb survivors through temporal axis

    • Principal Investigator
      宮崎 泰司
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 54010:Hematology and medical oncology-related
    • Research Institution
      Nagasaki University

  •  Development of biomarkers for "early diagnosis" and "realization of precision medicine" of familial Mediterranean fever

    • Principal Investigator
      Koga Tomohiro
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 54020:Connective tissue disease and allergy-related
    • Research Institution
      Nagasaki University

  •  New method to evaluate radiation effect by detecting structural variationPrincipal Investigator

    • Principal Investigator
      Yoshiura Koh-ichiro
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Review Section
      Medium-sized Section 63:Environmental analyses and evaluation and related fields
    • Research Institution
      Nagasaki University

  •  Ethnicity-oriented genomic analysis of pathogenesis underlysing sudden cardiac death of unknown cause

    • Principal Investigator
      Makita Naomasa
    • Project Period (FY)
      2018 – 2021
    • Research Category
      Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
    • Review Section
      Medium-sized Section 53:Organ-based internal medicine and related fields
    • Research Institution
      National Cardiovascular Center Research Institute
      Nagasaki University

  •  Evolution of Yaponesians based on genome sequence analyses of modern humans

    • Principal Investigator
      斎藤 成也
    • Project Period (FY)
      2018 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Complex systems
    • Research Institution
      National Institute of Genetics

  •  Identification and functional analysis of risk genes in multiplex ADHD families; multidimensional evaluation of neurodevelopmental disorders

    • Principal Investigator
      IMAMURA Akira
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University

  •  Comprehensive genome analysis for hematopoietic cells of atomic bomb survivors

    • Principal Investigator
      MIYAZAKI Yasushi
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Hematology
    • Research Institution
      Nagasaki University

  •  Differentiation and time specific gene Identification by the mapping of transcriptional start sitePrincipal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University

  •  Mechanisms for cancer development based on virus and human genome interactionPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2016 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Complex Systems Disease Theory
    • Research Institution
      Nagasaki University

  •  Identification of "disease control system" of adult still disease based on whole exon sequence

    • Principal Investigator
      KOGA Tomohiro
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Collagenous pathology/Allergology
    • Research Institution
      Nagasaki University

  •  Nagasaki atomic bomb survivors timor tissue bank and exhaustive analysis of the molecular pathology

    • Principal Investigator
      MIURA Shiro
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human pathology
    • Research Institution
      Nagasaki University

  •  Elucidation of novel pathophysiology underlysing lethal arrhythmia due to mutations in cardiac ion transporters

    • Principal Investigator
      MAKITA Naomasa
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Cardiovascular medicine
    • Research Institution
      Nagasaki University

  •  Development of new treatments for bone dysplasia caused by a mutation in TGFB1 utilizing patient-derived iPS cells

    • Principal Investigator
      KINOSHITA Akira
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Orthopaedic surgery
    • Research Institution
      Nagasaki University

  •  Clinical features and genetic alterations of MDS among atomic bomb survivors.

    • Principal Investigator
      MIYAZAKI Yasushi
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hematology
    • Research Institution
      Nagasaki University

  •  Genetic analysis of a large family with schizophrenia adopting ARMS and developmental disorder traits as intermediate phenotypes

    • Principal Investigator
      IMAMURA Akira
    • Project Period (FY)
      2014 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University

  •  Molecular genetic study of Gillespie syndrome

    • Principal Investigator
      Saitoh Shinji
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University

  •  Candidate gene study of cleft lip and/or cleft palate in Japan and Vietnam by international collaboration.

    • Principal Investigator
      SUZUKI SATOSHI
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Surgical dentistry
    • Research Institution
      Aichi Gakuin University

  •  A search for target genes of aberrant histone methylation diseases and the establishment of drug discovery platform based on elucidation of pathological conditions

    • Principal Investigator
      Soejima Hidenobu
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Human genetics
    • Research Institution
      Saga University

  •  Whole genome epigenetic analysis in Kabuki syndrome and model cell line constructionPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University

  •  Development of biological dosimetry after the irradiation.Principal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Risk sciences of radiation and chemicals
    • Research Institution
      Nagasaki University

  •  Development of Integrated Annotation Workflows for Human Whole Genome Sequencing

    • Principal Investigator
      MISHIMA Hiroyuki
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      System genome science
    • Research Institution
      Nagasaki University

  •  Detection of new molecules which induce bone lysis and new bone formation, and analysis of pathophysiology in arthropathy using induced pluripotent stem (iPS) cells

    • Principal Investigator
      Ida Hiroaki
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Collagenous pathology/Allergology
    • Research Institution
      Kurume University

  •  Molecular biological analysis of genome wide paternal uniparental disomy

    • Principal Investigator
      Ohtsuka Yasufumi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Saga University

  •  The molecular analysis of psychiatric disorders focusing missing heritability

    • Principal Investigator
      KUROTAKI Naohiro
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University

  •  Identification of Novel Genes and Pathogenesis Responsible for Brugada Syndrome Using Whole Exome Sequencing

    • Principal Investigator
      MAKITA Naomasa
    • Project Period (FY)
      2012 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Circulatory organs internal medicine
    • Research Institution
      Nagasaki 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

  •  Molecular genetic study of normal morphological variants

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Health Sciences University of Hokkaido

  •  Functional human protein analysis in the post-genome era learning to new autoinflammatory diseases

    • Principal Investigator
      IDA Hiroaki
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      膠原病・アレルギー・感染症内科学
    • Research Institution
      Kurume University

  •  Approach to the rare variation hypothesis of the psychiatric disorderby a next generation type ultra high-speed sequencer

    • Principal Investigator
      KUROTAKI Naohiro
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University

  •  Identification of microUPD and analysis of DNA repair in early developmentPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koichiro
    • Project Period (FY)
      2010 – 2011
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University

  •  Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture methodPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koichiro
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University

  •  Identification of the genes for abortus habirualis

    • Principal Investigator
      SHIMOKAWA Osamu
    • Project Period (FY)
      2009 – 2010
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Obstetrics and gynecology
    • Research Institution
      Nagasaki University

  •  Genetic, medical and anthropological study of human earwax gene, ABCC11

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      2008 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Health Sciences University of Hokkaido

  •  リアルタイムPCRの融解曲線を利用した遺伝子突然変異スクリーニング法の開発

    • Principal Investigator
      江口 勝美
    • Project Period (FY)
      2008 – 2009
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      膠原病・アレルギー・感染症内科学
    • Research Institution
      Nagasaki 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

  •  Earwax gene analysis of the Yayoi skeletal remains of native and immigrant lineage.

    • Principal Investigator
      SAIKI Kazunobiu
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Anthropology
    • Research Institution
      Nagasaki University

  •  The Molecular analysis of Sotos syndrome

    • Principal Investigator
      KUROTAKI Naohiro
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University

  •  新しい遺伝子連鎖分析法を駆使した遺伝性自己炎症性疾患患者の新規遺伝子の同定

    • Principal Investigator
      江口 勝美
    • Project Period (FY)
      2007
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      膠原病・アレルギー・感染症内科学
    • Research Institution
      Nagasaki University

  •  耳垢決定遺伝子ABCC11は膜輸送分子複合体形成の基盤遺伝子かPrincipal Investigator

    • Principal Investigator
      吉浦 孝一郎
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Nagasaki University

  •  A family-analysis-based search for genes susceptible to mono-, oligo- and polygenic disorders

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      2005 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Health Sciences University of Hokkaido
      Nagasaki University

  •  Anthropological prospect of earwax determining gene and association between earwax and breast cancerPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University

  •  Linkage analysis of skeletal mandibular prognathism in Japanese

    • Principal Investigator
      UCHIYAMA Takeshi
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Surgical dentistry
    • Research Institution
      Tokyo Dental College

  •  顔面奇形の発生制御遺伝子の解析Principal Investigator

    • Principal Investigator
      吉浦 孝一郎
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Nagasaki University

  •  顔面奇形の発生抑制遺伝子の解析Principal Investigator

    • Principal Investigator
      吉浦 孝一郎
    • Project Period (FY)
      2003
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Nagasaki University

  •  Functional analysis of Homeobox gene responsible for congenital hereditary ptosis and isolation of its associated proteinPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University

  •  顔面奇形の発生抑生遺伝子の解析Principal Investigator

    • Principal Investigator
      吉浦 孝一郎
    • Project Period (FY)
      2002
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Nagasaki University

  •  口唇・口蓋裂の発生制御遺伝子の解析Principal Investigator

    • Principal Investigator
      吉浦 孝一郎
    • Project Period (FY)
      2001
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      Nagasaki University

  •  Systematic gene analysis for bone metabolism associated to TGF-β1Principal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Nagasaki University

  •  Identification of causative gene for hereditary low-frequency sensorineural hearing loss

    • Principal Investigator
      SAKIHAMA Noriyuki
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Nagasaki University

  •  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

  •  GENOMIC DISCORDANCE BETWEEN MONOZYGOTIC TWINS DISCORDANT FOR AUTISM

    • Principal Investigator
      TSUJITA Takahiro
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      DIVISION OF NEUROPSYCHIATRY, DEPARTMENT OF TRANSLATIONAL MEDICAL SCIENCES NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES

  •  Functional analysis of hmx-1 gene in the developing embryoPrincipal Investigator

    • Principal Investigator
      YOSHIURA Koh-ichiro
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University School of Medicine

All 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 Other

All Journal Article Presentation Book Patent

  • [Book] 遺伝医学への招待改訂第6版2020
    • Author(s)
      吉浦孝一郎
    • Total Pages
      196
    • Publisher
      南江堂
    • ISBN
      9784524249312
    • Data Source
      KAKENHI-PLANNED-18H05506

  • [Book] 遺伝医学への招待（改訂第6版）2020
    • Author(s)
      （監修）新川 詔夫，（著者）太田 亨，吉浦 孝一郎，三宅 紀子
    • Total Pages
      196
    • Publisher
      南江堂
    • ISBN
      9784524249312
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Book] 遺伝医学への招待（改訂第6版）2020
    • Author(s)
      （監修）新川詔夫、（著者）太田 亨，吉浦孝一郎，三宅紀子
    • Total Pages
      196
    • Publisher
      南江堂
    • ISBN
      9784524249312
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Book] 遺伝医学への招待（改訂第6版）2020
    • Author(s)
      新川詔夫, 太田亨, 吉浦孝一郎, 三宅紀子
    • Total Pages
      196
    • Publisher
      南江堂
    • ISBN
      9784524249312
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Book] 遺伝子医学2019
    • Author(s)
      吉浦孝一郎，吉田輝彦，近藤直人，西原広史，武藤 学，田澤義明，島田能史，若井俊文，大熊ひとみ，米盛 勧，山本寛斉，豊岡伸一，小杉眞司，高橋研太，池田貞勝，目黒牧子，川本祥子，井ノ上逸郎，矢部一郎，関島良樹，三宅紀子，江口真希，原田直樹，涌井敬子，秋山奈々，鶴岡智子，西垣昌和，中林一彦，山田教弘，鎌谷洋一郎，柴田有花
    • Total Pages
      166
    • Publisher
      メディカルドゥ
    • ISBN
      9784944157297
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Book] 遺伝子医学2019
    • Author(s)
      吉浦孝一郎，吉田輝彦，近藤直人，西原広史，武藤 学，田澤義明，島田能史，若井俊文，大熊ひとみ，米盛 勧，山本寛斉，豊岡伸一，小杉眞司，高橋研太，池田貞勝，目黒牧子，川本祥子，井ノ上逸郎，矢部一郎，関島良樹，三宅紀子，江口真希，原田直樹，涌井敬子，秋山奈々，鶴岡智子，西垣昌和，中林一彦，山田教弘，鎌谷洋一郎，柴田有花
    • Total Pages
      166
    • Publisher
      メディカルドゥ
    • ISBN
      9784944157297
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Book] 次世代シークエンサーDRY解析教本：1-2 コマンドラインの使い方2015
    • Author(s)
      三嶋博之，清水厚志
    • Total Pages
      399
    • Publisher
      学研メディカル秀潤社
    • Data Source
      KAKENHI-PROJECT-25430183

  • [Book] 実験医学増刊・今日から使えるデータベース・ウェブツール達人になるための実線ガイド1002014
    • Author(s)
      三嶋博之
    • Total Pages
      6
    • Publisher
      羊土社
    • Data Source
      KAKENHI-PROJECT-25430183

  • [Book] カラー図解 基礎から疾患までわかる遺伝学2009
    • Author(s)
      新川詔夫, 吉浦孝一郎(監訳)
    • Total Pages
      521
    • Publisher
      メディカル・サイエンス・インターナショナル
    • Data Source
      KAKENHI-PROJECT-21390100

  • [Book] カラー図解基礎から疾患までわかる遺伝学2009
    • Author(s)
      Eberhard Passarge(新川詔夫・吉浦孝一郎監訳)
    • Total Pages
      521
    • Publisher
      メディカル・サイエンス・インターナショナル
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Functionally validated <i>SCN5A</i> variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome2021
    • Author(s)
      Ishikawa T, Kimoto H, Mishima H, Yamagata K, Ogata S, Aizawa Y, Hayashi K, Morita H, Nakajima T, Nakano Y, Nagase S, Murakoshi N, Kowase S, Ohkubo K, Aiba T, Morimoto S, Ohno S, Kamakura S, Nogami A, Takagi M, Karakachoff M, Dina C, Schott JJ, Yoshiura KI, Horie M, Shimizu W, Nishimura K, Kusano K, Makita N.
    • Journal Title

      European Heart Journal

      Volume: 42(29) Pages: 2854-2863

    • DOI

      10.1093/eurheartj/ehab254

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K09524, KAKENHI-PROJECT-18K15407, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21H02920, KAKENHI-PROJECT-20K08487, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K08028, KAKENHI-PROJECT-21K08075

  • [Journal Article] Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities2021
    • Author(s)
      Satoh Chisei、Kondoh Tatsuro、Shimizu Hitomi、Kinoshita Akira、Mishima Hiroyuki、Nishimura Gen、Miyazaki Mutsuko、Okano Kunihiko、Kumai Yoshihiko、Yoshiura Koh-ichiro
    • Journal Title

      European Journal of Medical Genetics

      Volume: 64 Pages: 104125-104125

    • DOI

      10.1016/j.ejmg.2020.104125

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18K07850

  • [Journal Article] Bile extracellular vesicles from end-stage liver disease patients show altered microRNA content2021
    • Author(s)
      Nakashiki Suguru、Miuma Satoshi、Mishima Hiroyuki、Masumoto Hiroshi、Hidaka Masaaki、Soyama Akihiko、Kanda Yasuko、Fukushima Masanori、Haraguchi Masafumi、Sasaki Ryu、Miyaaki Hisamitsu、Ichikawa Tatsuki、Takatsuki Mitsuhisa、Eguchi Susumu、Yoshiura Koh-ichiro、Nakao Kazuhiko
    • Journal Title

      Hepatology International

      Volume: 15 Pages: 821-830

    • DOI

      10.1007/s12072-021-10196-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07975, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K07916, KAKENHI-PROJECT-19K17497

  • [Journal Article] Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.2021
    • Author(s)
      Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, M.H, K.A, M.T, H.S, K.N, K.S, H.Y, I.K, N.R, T.M, Y.Y, T.S, O.T, O.T, K.T, S.I, F.Y, W.N, I.Y, K.K, O.S, T.T, N.K, M.S, Y.K, Kaisho T
    • Journal Title

      Nat Commun

      Volume: 12 Pages: 0-0

    • DOI

      10.1038/s41467-021-27085-y

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07062, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16289, KAKENHI-ORGANIZER-18H05497, KAKENHI-PLANNED-18H05500, KAKENHI-PROJECT-18H04022, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20H03505, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21J22615, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K06956, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K19384, KAKENHI-PROJECT-20K17405

  • [Journal Article] Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells2021
    • Author(s)
      Kinoshita Akira、Ohyama Kaname、Tanimura Susumu、Matsuda Katsuya、Kishino Tatsuya、Negishi Yutaka、Asahina Naoko、Shiraishi Hideaki、Hosoki Kana、Tomiwa Kiyotaka、Ishihara Naoko、Mishima Hiroyuki、Mori Ryoichi、Nakashima Masahiro、Saitoh Shinji、Yoshiura Koh-ichiro
    • Journal Title

      Development

      Volume: 148 Pages: 1-15

    • DOI

      10.1242/dev.188755

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-21H04853, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08886, KAKENHI-PROJECT-21K06069, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20K20617

  • [Journal Article] A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models2021
    • Author(s)
      Yoshiro Morimoto, Shinji Ono, Shintaro Yoshida, Hiroyuki Mishima, Akira Kinoshita, Takeshi Tanaka, Yoshihiro Komohara, Naohiro Kurotaki, Tatsuya Kishino, Yuji Okazaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Akira Imamura
    • Journal Title

      Translational Psychiatry

      Volume: 11 Pages: 131-132

    • DOI

      10.1038/s41398-021-01258-1

    • NAID

      120007000270

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08050, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K16650, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-18K07850

  • [Journal Article] Comprehensive analysis for detecting radiation-specific molecules expressed during radiation-induced rat thyroid carcinogenesis2021
    • Author(s)
      Kurohama H, Matsuda K, Kishino M, Yoshino M, Yamaguchi Y, Matsuu-Matsuyama M, Kondo H, Mitsutake N, Kinoshita A, Yoshiura KI, Nakashima M.
    • Journal Title

      Journal of Radiation Research

      Volume: 62

    • DOI

      10.1093/jrr/rraa139

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K07471, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K07424, KAKENHI-PROJECT-20K08886, KAKENHI-PROJECT-20K21718

  • [Journal Article] Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.2020
    • Author(s)
      Taguchi M, Mishima H, Shiozawa Y, Hayashida C, Kinoshita A, Nannya Y, Makishima H, Horai M, Matsuo M, Sato S, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Moriuchi Y, Shiraishi Y, Miyano S, Ogawa S, Yoshiura K-i, Miyazaki Y
    • Journal Title

      Haematologica

      Volume: 105 Pages: 358-365

    • DOI

      10.3324/haematol.2019.219386

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-17K16189, KAKENHI-PROJECT-18KK0245, KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-19H01053, KAKENHI-PROJECT-17H04209, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib2020
    • Author(s)
      Yamashita Y, Morita S, Hosoi H, Kobata H, Kishimoto S, Ishibashi T, Mishima H, Kinoshita A, Backes BJ, Yoshiura KI, Papa FR, Sonoki T, Tamura S
    • Journal Title

      International Journal of Molecular Sciences

      Volume: Aug 31;21(17) Pages: 6314-6314

    • DOI

      10.3390/ijms21176314

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08821, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K17405, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-19K17839

  • [Journal Article] KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle-Wells syndrome2020
    • Author(s)
      Kaneko Naoe、Kurata Mie、Yamamoto Toshihiro、Shigemura Tomonari、Agematsu Kazunaga、Yamazaki Takashi、Takeda Hiroyuki、Sawasaki Tatsuya、Koga Tomohiro、Kawakami Atsushi、Yachie Akihiro、Migita Kiyoshi、Yoshiura Koh-ichiro、Urano Takeshi、Masumoto Junya
    • Journal Title

      Scientific Reports

      Volume: 10 Pages: 13562-13562

    • DOI

      10.1038/s41598-020-70513-0

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K07376, KAKENHI-PROJECT-18KK0245, KAKENHI-PLANNED-16H06579, KAKENHI-PROJECT-19H03218, KAKENHI-PROJECT-20H03719, KAKENHI-PROJECT-20H01085

  • [Journal Article] EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly2020
    • Author(s)
      Otsuki Yuki、Ueda Koichi、Nuri Takashi、Satoh Chisei、Maekawa Ryuta、Yoshiura Koh-ichiro
    • Journal Title

      Medicine

      Volume: 99

    • DOI

      10.1097/md.0000000000022816

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245

  • [Journal Article] Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study2020
    • Author(s)
      Koga T, Sato S, Mishima H, Migita K, Endo Y, Umeda M, Sumiyoshi R, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A.
    • Journal Title

      Clin Exp Rheumatol.

      Volume: 38 Pages: 35-41

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08913

  • [Journal Article] Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study2020
    • Author(s)
      Koga T, Sato S, Mishima H, Migita K, Endo Y, Umeda M, Sumiyoshi R, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A.
    • Journal Title

      Clin Exp Rheumatol

      Volume: 127 Pages: 35-41

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Journal Article] Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation2020
    • Author(s)
      Shimizu K, Oba D, Nambu R, Tanaka M, Oguma E, Murayama K, Ohtake A, Yoshiura KI, Ohashi H.
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: 17

    • DOI

      10.1002/mgg3.1129

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112

  • [Journal Article] A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in <i>ABCG5</i>2020
    • Author(s)
      Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T.
    • Journal Title

      Endocrine Journal

      Volume: 67 Pages: 1099-1105

    • DOI

      10.1507/endocrj.ej20-0044

    • NAID

      130007945810

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18H02859, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K17955

  • [Journal Article] Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.2020
    • Author(s)
      Ishikawa Taisuke、Ichida Fukiko、Makita Naomasa　et al
    • Journal Title

      Circulation. Arrhythmia and Electrophysiology

      Volume: 13 Pages: 1165-1174

    • DOI

      10.1161/circep.120.008712

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07785, KAKENHI-PROJECT-19K08295, KAKENHI-PROJECT-19K21724, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18H02808, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-18K19550, KAKENHI-PROJECT-20K08416

  • [Journal Article] Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report2020
    • Author(s)
      Morita Shuhei、Takeshima Ken、Ariyasu Hiroyuki、Furukawa Yasushi、Kishimoto Shohei、Tsuji Tomoya、Uraki Shinsuke、Mishima Hiroyuki、Kinoshita Akira、Takahashi Yuichi、Inaba Hidefumi、Iwakura Hiroshi、Furuta Hiroto、Nishi Masahiro、Doi Asako、Murata Shin-ichi、Yoshiura Koh-ichiro、Akamizu Takashi
    • Journal Title

      BMC Endocrine Disorders

      Volume: 20 Pages: 1-6

    • DOI

      10.1186/s12902-020-00574-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K17518, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18K07850

  • [Journal Article] Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature2020
    • Author(s)
      Morishima S, Maeda M, Itonaga T, Sato-Kawano N, Yoshiura KI, Ihara K.
    • Journal Title

      Clin Pediatr Endocrinol

      Volume: 29 Issue: 4 Pages: 183-187

    • DOI

      10.1297/cpe.29.183

    • NAID

      130007922122

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591

  • [Journal Article] Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.2020
    • Author(s)
      Shibano Masayasu、Watanabe Akira、Takano Nobuo、Mishima Hiroyuki、Kinoshita Akira、Yoshiura Koh-ichiro、Shibahara Takahiko
    • Journal Title

      The Cleft palate-craniofacial journal

      Volume: 57 Pages: 80-87

    • DOI

      10.1177/1055665619857650

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study2020
    • Author(s)
      Tomohiro Koga, Shuntaro Sato, Hiroyuki Mishima, Kiyoshi Migita, Yushiro Endo, Masataka Umeda, Remi Sumiyoshi, Fumiaki Nonaka, Shoichi Fukui, Shin-Ya Kawashiri, Naoki Iwamoto, Kunihiro Ichinose, Mami Tamai, Hideki Nakamura, Tomoki Origuchi, Yukitaka Ueki, Junya Masumoto,et al.
    • Journal Title

      Clin Exp Rheumatol

      Volume: 38 Suppl 127 Pages: 35-41

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20H03719

  • [Journal Article] KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).2020
    • Author(s)
      Hamaguchi Yo、Aoki Mikihiro、Watanabe Satoshi、Mishima Hiroyuki、Yoshiura Koh-ichiro、Moriuchi Hiroyuki、Dateki Sumito
    • Journal Title

      Humane Genome Variation

      Volume: 6 Pages: 54-54

    • DOI

      10.1038/s41439-019-0085-3

    • NAID

      120006988337

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Identification of a novel CCDC22 mutation in a patient with severe Epstein Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.2019
    • Author(s)
      Yamashita Y, Nishikawa A, Iwahashi Y, Fujimoto M, Sasaki I, Mishima H, Kinoshita A, Hemmi H, Kanazawa N, Ohshima K, Imadome KI, Murata SI、Yoshiura KI, Kaisho T, Sonoki T, Tamura S
    • Journal Title

      International of Hematology

      Volume: 印刷中 Pages: 358-365

    • DOI

      10.1007/s12185-019-02595-0

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07071, KAKENHI-PROJECT-18K07850, KAKENHI-PUBLICLY-17H05799, KAKENHI-PROJECT-17H04088, KAKENHI-PROJECT-17K19568, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08821, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PUBLICLY-19H04813, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.2019
    • Author(s)
      Endo Y, Koga T, Nakashima M, Mishima H, Yoshiura KI, Kawakami A.
    • Journal Title

      Clinical and Experimental Rheumatology

      Volume: 37 Suppl 121(6) Pages: 161-162

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Journal Article] TERT mRNA Expression as a Novel Prognostic Marker in Papillary Thyroid Carcinomas.2019
    • Author(s)
      Tanaka Aya、Matsuse Michiko、Saenko Vladimir、Nakao Tomoe、Yamanouchi Kosho、Sakimura Chika、Yano Hiroshi、Nishihara Eijun、Hirokawa Mitsuyoshi、Suzuki Keiji、Miyauchi Akira、Eguchi Susumu、Yoshiura Ko-ichiro、Yamashita Shunichi、Nagayasu Takeshi、Mitsutake Norisato
    • Journal Title

      Thyroid

      Volume: 29 Pages: 11051114-11051114

    • DOI

      10.1089/thy.2018.0695

    • NAID

      120006988431

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07471, KAKENHI-PROJECT-19K09913, KAKENHI-PROJECT-18K19585, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-19KK0267, KAKENHI-PROJECT-16H05832, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16K09804, KAKENHI-PROJECT-16H02774

  • [Journal Article] A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.2019
    • Author(s)
      Sumito Dateki, Satoshi Watanabe, Hiroyuki Mishima, Toshihiko Shirakawa, Minoru Morikawa, Eiichi Kinoshita, Koh-ichiro Yoshiura, and Hiroyuki Moriuchi
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Pages: 341-346

    • DOI

      10.1038/s10038-019-0566-8

    • NAID

      120006987778

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.2019
    • Author(s)
      Mishima Hiroyuki、Suzuki Hisato、Doi Michiko、Miyazaki Mutsuko、Watanabe Satoshi、Matsumoto Tadashi、Morifuji Kanako、Moriuchi Hiroyuki、Yoshiura Koh-ichiro、Kondoh Tatsuro、Kosaki Kenjiro
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Pages: 789-794

    • DOI

      10.1038/s10038-019-0619-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PLANNED-18H05506, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16K12149, KAKENHI-PROJECT-17K12295

  • [Journal Article] Identification of a variant-associated with early-onset diabetes in the intron of INS gene with exome sequencing2019
    • Author(s)
      Matsuno, S., Furuta, H., Kosaka, K., Doi, A., Yorifuji, T., Fukuda, T., Senmaru, T., Uraki, S., Matsutani, N., Furuta, M., Mishima, H., Iwakura, H., Nishi, M., Yoshiura, K., Fukui, M. and Akamizu, T.
    • Journal Title

      Journal of Diabetes Investigation

      Volume: Epub ahead of print Pages: 947-950

    • DOI

      10.1111/jdi.12974

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K09842, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report2019
    • Author(s)
      Masui D, Fukahori S, Mizuochi T, Watanabe Y, Fukui K, Ishii S, Saikusa N, Hashizume N, Higashidate N, Sakamoto S, Takato A, Yoshiura KI, Tanaka Y, Yagi M.
    • Journal Title

      Surgical Case Reports

      Volume: 5(1) Pages: 132-132

    • DOI

      10.1186/s40792-019-0688-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.2019
    • Author(s)
      Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura K, Dateki S
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Pages: 467-471

    • DOI

      10.1038/s10038-019-0581-9

    • NAID

      120006987791

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations2019
    • Author(s)
      Endo Y., Koga T., Nakashima M., Mishima H., Yoshiura K. I. , Kawakami A.
    • Journal Title

      Clinical and Experimental Rheumatology

      Volume: 37 Suppl 121(6) Pages: 161-162

    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Journal Article] Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.2019
    • Author(s)
      Endo Y, Koga T, Nakashima M, Mishima H, Yoshiura KI, Kawakami A.
    • Journal Title

      Clinical and Experimental Rheumatology

      Volume: 37 Suppl 121(6) Pages: 161-162

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Journal Article] Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.2019
    • Author(s)
      Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura K, Ono S
    • Journal Title

      Neurology

      Volume: 92

    • DOI

      10.1212/wnl.0000000000007505

    • NAID

      120006987711

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07088, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K08050, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309

  • [Journal Article] Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm2018
    • Author(s)
      Sato S, Itonaga H, Taguchi M, Sawayama Y, Imanishi D, Tsushima H, Hata T, Moriuchi Y, Mishima H, Kinoshita A, Yoshiura KI, Miyazaki Y.
    • Journal Title

      nt J Hematol

      Volume: - Pages: 213-217

    • DOI

      10.1007/s12185-018-2419-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K16189, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-17H04209

  • [Journal Article] Patients with SATB2-associated syndrome exhibiting multiple odontomas.2018
    • Author(s)
      Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI.
    • Journal Title

      Am J Med Genet

      Volume: 176 Pages: 2614-2622

    • DOI

      10.1002/ajmg.a.40670

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-17H01606, KAKENHI-PROJECT-16H05159

  • [Journal Article] Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.2018
    • Author(s)
      Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H.
    • Journal Title

      Human Genome Variation

      Volume: 5 Pages: 18014-18014

    • DOI

      10.1038/hgv.2018.14

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159

  • [Journal Article] Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.2018
    • Author(s)
      Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K.
    • Journal Title

      Eur J Med Genet.

      Volume: 61 Pages: 305-307

    • DOI

      10.1016/j.ejmg.2018.04.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159

  • [Journal Article] A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome2018
    • Author(s)
      Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S.
    • Journal Title

      J Hum Genet

      Volume: 63 Pages: 387-390

    • DOI

      10.1038/s10038-017-0396-5

    • NAID

      120006987777

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K12295, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16K09972

  • [Journal Article] Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.2018
    • Author(s)
      Hidaka H, Higashimoto K, Aoki S, Mishima H, Hayashida C, Maeda T, Koga Y, Yatsuki H, Joh K, Noshiro H, lwakiri R, Kawaguchi A, Yoshiura K, Fujimoto K, Soejima H
    • Journal Title

      Clin Epigenetics

      Volume: 10 Pages: 150-150

    • DOI

      10.1186/s13148-018-0578-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16K09970, KAKENHI-PROJECT-18H00338

  • [Journal Article] Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing2018
    • Author(s)
      Horai M, Mishima H, Hayashida C, Kinoshita A, Nakane Y, Matsuo T, Tsuruda K, Yanagihara K, Sato S, Imanishi D, Imaizumi Y, Hata T, Miyazaki Y, Yoshiura KI.
    • Journal Title

      Journal of Human Genetics

      Volume: 63 Pages: 357-363

    • DOI

      10.1038/s10038-017-0392-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K10481, KAKENHI-ORGANIZER-18H05505, KAKENHI-PLANNED-18H05506

  • [Journal Article] A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.2018
    • Author(s)
      Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S.
    • Journal Title

      CEN Case Rep

      Volume: 7 Pages: 94-97

    • DOI

      10.1007/s13730-018-0302-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159

  • [Journal Article] 被爆者保存組織の活用を目的としたホルマリン固定パラフィン包埋組織（FFPE）DNAの分子解析試料としての系統的評価．2018
    • Author(s)
      大野田貴、松田勝也、上木　望、山口裕佳、三浦史郎、木下　晃、吉浦孝一郎、中島正洋
    • Journal Title

      広島医学

      Volume: 印刷中

    • Data Source
      KAKENHI-PROJECT-15K08379

  • [Journal Article] Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder2018
    • Author(s)
      Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S.
    • Journal Title

      Transl Psychiatry.

      Volume: 8 Pages: 41-41

    • DOI

      10.1038/s41398-017-0088-0

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-26461721, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309, KAKENHI-PROJECT-16K10190, KAKENHI-PROJECT-16K10193

  • [Journal Article] Reference values for circulating pregnancy-associated microRNAs in maternal plasma and their clinical usefulness in uncomplicated pregnancy and hypertensive disorder of pregnancy.2018
    • Author(s)
      Murakami Y, Miura K, Sato S, Higashijima A, Hasegawa Y, Miura S, Yoshiura KI, Masuzaki H
    • Journal Title

      J Obstet Gynaecol Res

      Volume: 印刷中 Pages: 840-851

    • DOI

      10.1111/jog.13610

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K10677, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16K11144, KAKENHI-PROJECT-17K11241, KAKENHI-PROJECT-17K11283, KAKENHI-PROJECT-18K09265, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16K15710

  • [Journal Article] Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease2018
    • Author(s)
      Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N.
    • Journal Title

      Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N.

      Volume: 4 Pages: 17032-17032

    • DOI

      10.1038/hgv.2017.32

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-26461721, KAKENHI-PROJECT-16K10190

  • [Journal Article] Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki2018
    • Author(s)
      Horai M, Satoh S, Matsuo M, Iwanaga M, Horio K, Jo T, Takasaki Y, Kawaguchi Y, Tsushima H, Yoshida S, Taguchi M, Itonaga H, Sawayama Y, Taguchi J, Imaizumi Y, Hata T, Moriuchi Y, Haase D, Yoshiura KI, Miyazaki Y.
    • Journal Title

      British Journal of Haematology

      Volume: 180 Pages: 381-390

    • DOI

      10.1111/bjh.15050

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-17H04209, KAKENHI-PROJECT-17K16189

  • [Journal Article] MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway.2018
    • Author(s)
      Koga Tomohiro,Migita Kiyoshi,Sato Tomohito,Sato Shuntaro,Umeda Masataka,Nonaka Fumiaki,Fukui Shoichi,Kawashiri Shin-ya,Iwamoto Naoki,Ichinose Kunihiro,Tamai Mami,Nakamura Hideki,Origuchi Tomoki,Ueki Yukitaka,Masumoto Junya,Agematsu Kazunaga,Yachie Akihiro,Yoshiura Koh-ichiro,Eguchi Katsumi,Kawakami Atsushi
    • Journal Title

      Rheumatology (Oxford)

      Volume: 57 Pages: 718-26

    • DOI

      10.1093/rheumatology/kex451

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09531, KAKENHI-PROJECT-17K09981, KAKENHI-PROJECT-16K15514, KAKENHI-PROJECT-26461481, KAKENHI-PROJECT-16K19605, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15H04873, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-17H04656, KAKENHI-PROJECT-17K19685

  • [Journal Article] Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death2017
    • Author(s)
      Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K.
    • Journal Title

      Journal of Human Genetics

      Volume: 62 Pages: 989-995

    • DOI

      10.1038/jhg.2017.79

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15H04823, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K08892, KAKENHI-PROJECT-15K15311

  • [Journal Article] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum2017
    • Author(s)
      Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A.
    • Journal Title

      The Journal of Dermatology

      Volume: 印刷中 Pages: 644-650

    • DOI

      10.1111/1346-8138.13727

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02654, KAKENHI-PROJECT-15H04793, KAKENHI-PROJECT-14F04093, KAKENHI-PROJECT-26291005, KAKENHI-PROJECT-26461528, KAKENHI-PROJECT-15K19693, KAKENHI-PROJECT-15K10839, KAKENHI-PROJECT-16K10155, KAKENHI-PROJECT-16K15526, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K09592, KAKENHI-PROJECT-17H00783, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16K19727

  • [Journal Article] Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still’s disease2017
    • Author(s)
      Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, Suzuki E, Ito T, Ubara Y, Kobayashi D, Iwanaga N, Izumi Y, Fujikawa K, Yamasaki S, Nakamura T, Koga T, Shimizu T, Umeda M, Nonaka F, Yasunami M, Ueki Y, Eguchi K, Tsuchiya N, Tohma S, Yoshiura KI, Ohira H, Kawakami A, Migita K.
    • Journal Title

      Arthritis Research & Therapy

      Volume: 19 Pages: 199-199

    • DOI

      10.1186/s13075-017-1406-x

    • NAID

      120007134551

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-26293076, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K09543, KAKENHI-PROJECT-16K15154

  • [Journal Article] Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation2017
    • Author(s)
      Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H.
    • Journal Title

      Journal of Human Genetics

      Volume: 62 Pages: 717-721

    • DOI

      10.1038/jhg.2017.33

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159

  • [Journal Article] Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen?thaw embryo transfer under hormone replacement endometrium preparation2017
    • Author(s)
      Kitajima M, Miura K, Inoue T, Murakami Y, Kitajima Y, Murakami N, Taniguchi K, Yoshiura KI, Masuzaki H.
    • Journal Title

      Gynecological Endocrinology

      Volume: 25 Pages: 381-384

    • DOI

      10.1080/09513590.2017.1393512

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159

  • [Journal Article] Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction2017
    • Author(s)
      Ishikawa T, Horie M, et al.
    • Journal Title

      Heart rhythm

      Volume: 印刷中 Pages: 717-724

    • DOI

      10.1016/j.hrthm.2017.01.020

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15H04818, KAKENHI-PROJECT-15K09150, KAKENHI-PROJECT-15K09680, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K09495, KAKENHI-PROJECT-15H04823, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K15311

  • [Journal Article] De novo mutations in SMCHD1 abrogate nasal development.2017
    • Author(s)
      Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K-i, Oufadem M, Beck TJ, McGowan R, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.　その他
    • Journal Title

      Nature Genetics

      Volume: 49(2) Pages: 249-255

    • DOI

      10.1038/ng.3765

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child.2017
    • Author(s)
      Nishitani S, Ikematsu K, Takamura T, Honda S, Yoshiura KI, Shinohara K.
    • Journal Title

      Horm Behav.

      Volume: 87 Pages: 47-56

    • DOI

      10.1016/j.yhbeh.2016.09.010

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.2017
    • Author(s)
      Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H.
    • Journal Title

      Am J Med Genet. A.

      Volume: 173(1) Pages: 217-220

    • DOI

      10.1002/ajmg.a.37978

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum.2017
    • Author(s)
      Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI and Masuzaki H
    • Journal Title

      J Hum Genet.

      Volume: 印刷中 Pages: 803-808

    • DOI

      10.1038/jhg.2017.45

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K11241, KAKENHI-PROJECT-17K11283, KAKENHI-PROJECT-16H05159

  • [Journal Article] SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.2017
    • Author(s)
      Shaw ND, Brand H, Kupchinsky ZA, Sato D, Okamoto N, Jacobsen C, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. その他
    • Journal Title

      Nature Genetics

      Volume: 49(2) Pages: 238-248

    • DOI

      10.1038/ng.3743

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation2017
    • Author(s)
      Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
    • Journal Title

      J Am Coll Cardiol

      Volume: 70 Pages: 358-370

    • DOI

      10.1016/j.jacc.2017.05.039

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K09495, KAKENHI-PROJECT-15H04823, KAKENHI-PROJECT-15H04818, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K09689, KAKENHI-PROJECT-15K15311

  • [Journal Article] Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.2016
    • Author(s)
      Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura KI, Nunoi H.
    • Journal Title

      Nephrology (Carlton)

      Volume: 21(9) Pages: 765-773

    • DOI

      10.1111/nep.12666

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112

  • [Journal Article] Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature2016
    • Author(s)
      Matsuda K, Tateishi S, Akazawa Y, Kinoshita A, Yoshida S, Morisaki S, Fukushima A, Matsuwaki T, Yoshiura KI, Nakashima M.
    • Journal Title

      Diagostic Pathology

      Volume: 11(1) Pages: 101-101

    • DOI

      10.1186/s13000-016-0554-7

    • NAID

      120006987629

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15K10481

  • [Journal Article] Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.2016
    • Author(s)
      Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
    • Journal Title

      Am J Med Genet A.

      Volume: 170A Pages: 908-917

    • DOI

      10.1002/ajmg.a.37496

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-16H05159

  • [Journal Article] Expression of somatostatin receptor type 2A and PTEN in neuroendocrine neoplasms is associated with tumor grade but not with site of origin.2016
    • Author(s)
      Wada H, Matsuda K, Akazawa Y, Yamaguchi Y, Miura S, Ueki N, Kinoshita A, Yoshiura K, Kondo H, Ito M, Nagayasu T, Nakashima M.
    • Journal Title

      Endocrine Pathology

      Volume: 27(3) Pages: 179-187

    • DOI

      10.1007/s12022-016-9436-5

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15K08379, KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-16K08702

  • [Journal Article] Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever2016
    • Author(s)
      Koga T, Migita K, Sato S, Umeda M, Nonaka F, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura K, Eguchi K, Kawakami A.
    • Journal Title

      Medicine (Baltimore).

      Volume: 95

    • DOI

      10.1097/md.0000000000003449

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293232, KAKENHI-PROJECT-26305024, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16K15514

  • [Journal Article] Association between p53-binding protein 1 expression and genomic instability in oncocytic follicular adenoma of the thyroid2016
    • Author(s)
      Mussazhanova Z, Akazawa Y, Matsuda K, Shichijo K, Miura S, Otsubo R, Oikawa M, Yoshiura K, Mitsutake N, Rogounovitch T, Saenko V, Kozykenova Z, Zhetpisbaev B, Shabdarbaeva D, Sayakenov N, Amntayev B, Kondo H, Ito M, Nakashima M.
    • Journal Title

      Endocrine Journal

      Volume: 63 Issue: 5 Pages: 457-467

    • DOI

      10.1507/endocrj.ej15-0629

      10.1507/endocrj.EJ15-0629

    • NAID

      130005154197

    • ISSN
      0918-8959, 1348-4540
    • Language
      English
    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02654, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-26293142, KAKENHI-PROJECT-15K08379, KAKENHI-PROJECT-16K08702, KAKENHI-PROJECT-16K08714, KAKENHI-PROJECT-16K09805, KAKENHI-PROJECT-15K19865

  • [Journal Article] Genetic background of hyperphenylalaninemia in Nagasaki, Japan.2016
    • Author(s)
      Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H.
    • Journal Title

      Pediatr Int.

      Volume: 58(5) Pages: 431-433

    • DOI

      10.1111/ped.12924

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Journal Article] Ultra sensitive droplet digital PCR for detecting a low prevalence somatic GNAQ mutation in Sturge&#8211;Weber syndrome2016
    • Author(s)
      Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
    • Journal Title

      Sci Rep

      Volume: 6 Pages: 22985-22985

    • DOI

      10.1038/srep22985

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357

  • [Journal Article] Familial Mediterranean fever is no longer a rare disease in Japan.2016
    • Author(s)
      Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K, Yachie A, Masumoto J, Fujikawa K, Yamasaki S, Nakamura T, Ubara Y, Koga T, Nakashima Y, Shimizu T, Umeda M, Nonaka F, Yasunami M, Eguchi K, Yoshiura K, Kawakami A.
    • Journal Title

      Arthritis Res Ther

      Volume: 18 Pages: 175-175

    • DOI

      10.1186/s13075-016-1071-5

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15H04873, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-26293076, KAKENHI-PROJECT-26461481

  • [Journal Article] A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population2016
    • Author(s)
      Miura K, Mishima H, Yasunami M, Kaneuchi M, Kitajima M, Abe S, Higashijima A, Fuchi N, Miura S, Yoshiura KI, Masuzaki H.
    • Journal Title

      Journal of Human Genetics

      Volume: 61(9) Pages: 793-796

    • DOI

      10.1038/jhg.2016.50

    • NAID

      40020938176

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-26293076, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15K10677, KAKENHI-PROJECT-16K20199

  • [Journal Article] Effect of labor on plasma concentrations and postpartum clearance of cell-free, pregnancy-associated, placenta-specific microRNAs.2015
    • Author(s)
      Morisaki S, Miura K, Higashijima A, Abe S, Miura S, Hasegawa Y, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H
    • Journal Title

      Prenat Diagn.

      Volume: 35 Pages: 44-45

    • DOI

      10.1002/pd.4479

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-15K10676, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy.2015
    • Author(s)
      Miura K, Higashijima A, Mishima H, Miura S, Kitajima M, Kaneuchi M, Yoshiura K, Masuzaki H
    • Journal Title

      Fertil Steril.

      Volume: 印刷中 Pages: 1202-1208

    • DOI

      10.1016/j.fertnstert.2015.01.041

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-15K10674, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Increased Levels of Cell-Free miR-517a and Decreased Levels of Cell-Free miR-518b in Maternal Plasma Samples From Placenta Previa Pregnancies at 32 Weeks of Gestation.2015
    • Author(s)
      Hasegawa Y, Miura K, Higashijima A, Abe S, Miura S, Yoshiura KI, Masuzaki H
    • Journal Title

      Reprod Sci.

      Volume: 22 Pages: 1569-1576

    • DOI

      10.1177/1933719115589407

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.2015
    • Author(s)
      Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O,et al
    • Journal Title

      Journal of Clinical Immunology

      Volume: 160 Pages: 225-260

    • DOI

      10.1016/j.clim.2015.07.004

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09747, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-26291005, KAKENHI-PROJECT-15H02654

  • [Journal Article] Germline mutations causing familial lung cancer2015
    • Author(s)
      Tomoshige K, Matsumoto K, Tsuchiya T, Oikawa M, Miyazaki T, Yamasaki N, Mishima H, Kinoshita A, Kubo T, Fukushima K, Yoshiura K, Nagayasu T.
    • Journal Title

      Journal of Hum Genetics

      Volume: 60 Pages: 597-603

    • DOI

      10.1038/jhg.2015.75

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] A novel diagnostic method targeting genomic instability in intracystic tumors of the breast. Breast Cancer.2015
    • Author(s)
      Oikawa M, Yano H, Matsumoto M, Otsubo R, Shibata K, Hayashi T, Abe K, Kinoshita N, Yoshiura KI, Nagayasu T.
    • Journal Title

      Breast Cancer.

      Volume: Jan Pages: 529-535

    • DOI

      10.1007/s12282-013-0516-9

    • NAID

      120006986911

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24791382, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.2015
    • Author(s)
      Gohda Y, Oka S, Matsunaga T, Watanabe S, Yoshiura K, Kondoh T, Matsumoto T
    • Journal Title

      Pediatric International

      Volume: 57 Pages: 726-728

    • DOI

      10.1111/ped.12574

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders2015
    • Author(s)
      Yamamoto T, Mishima H, Mizukami H, Fukahori Y, Umehara T, Murase T, Kobayashi M, Mori S, Nagai T, Fukunaga T, Yamaguchi S, Yoshiura K, Ikematsu K
    • Journal Title

      Molecular Genetics and Metabolism Report

      Volume: 5 Pages: 26-32

    • DOI

      10.1016/j.ymgmr.2015.09.005

    • NAID

      120006986854

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25430183

  • [Journal Article] Circulating levels of maternal plasma cell-free miR-21 are associated with maternal body mass index and neonatal birth weight2015
    • Author(s)
      Miura K, Higashijima A, Hasegawa Y, Abe S, Miura S, Fuchi N, Murakami Y, Kinoshita A, Yoshida A, Kaneuchi M, Yoshiura KI, Masuzaki H.
    • Journal Title

      Prenat Diagn.

      Volume: 35 Pages: 509-511

    • DOI

      10.1002/pd.4509

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K10676, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.2015
    • Author(s)
      Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.
    • Journal Title

      Clinical Genetics

      Volume: 8 Pages: 1-1

    • DOI

      10.1111/cge.12496

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-26670169, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] Transforming growth factor beta1 (TGFβ1) polymorphisms and breast cancer risk.2014
    • Author(s)
      Amani D, Khalilnezhad A, Ghaderi A, Niikawa N, Yoshiura KI.
    • Journal Title

      Tumor Biology

      Volume: 35 (5) Pages: 4757-4764

    • DOI

      10.1007/s13277-014-1621-x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084

  • [Journal Article] ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion2014
    • Author(s)
      Matsumoto H, Tsuchiya T, Yoshiura K, Hayashi T, Hidaka S, Nanashima A, Nagayasu T.
    • Journal Title

      ACTA HISTOCHEMICA ET CYTOCHEMICA

      Volume: 47 (3) Issue: 3 Pages: 85-89

    • DOI

      10.1267/ahc.13040

    • NAID

      130004137832

    • ISSN
      0044-5991, 1347-5800
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25550033

  • [Journal Article] Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma. Gynecologic Oncology2014
    • Author(s)
      Tsukamoto O, Miura K, Mishima H, Abe S, Kaneuchi M, Higashijima A, Miura S, Kinoshita A, Yoshiura K, Masuzaki H.
    • Journal Title

      Gynecol Oncol.

      Volume: 132 (3) Pages: 715-721

    • DOI

      10.1016/j.ygyno.2014.01.029

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25861498, KAKENHI-PROJECT-26462495

  • [Journal Article] Clinical applications of analysis of plasma circulating complete hydatidiform mole pregnancy-associated miRNAs in gestational trophoblastic neoplasia: A preliminary investigation2014
    • Author(s)
      Miura K, Hasegawa Y, Abe S, Higashijima A, Miura S, Mishima H, Kinoshita A, Kaneuchi M, Yoshiura K, Masuzaki H.
    • Journal Title

      Placenta

      Volume: 35 (9) Pages: 787-789

    • DOI

      10.1016/j.placenta.2014.06.004

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-26462495

  • [Journal Article] Genome-wide association study of HPV-associated cervical cancer in Japanese women2014
    • Author(s)
      Miura K, Mishima H, Kinoshita A, Hayashida C, Abe S, Tokunaga K, Masuzaki H, Yoshiura KI.
    • Journal Title

      J. Med. Virol.

      Volume: 86 (7) Pages: 1153-1158

    • DOI

      10.1002/jmv.23943

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-221S0002

  • [Journal Article] Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis2014
    • Author(s)
      Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura KI, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura KI, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.
    • Journal Title

      Cell Singal.

      Volume: 26 (11) Pages: 2446-2459

    • DOI

      10.1016/j.cellsig.2014.07.025

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26430194

  • [Journal Article] Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US2014
    • Author(s)
      Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H.
    • Journal Title

      J Hum Genet.

      Volume: 59 (5) Pages: 251-255

    • DOI

      10.1038/jhg.2014.9

    • NAID

      40020066482

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25861498, KAKENHI-PROJECT-26462495

  • [Journal Article] Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome.2014
    • Author(s)
      Miura K, Higashijima A, Miura S, Mishima H, Yamasaki K, Abe S, Hasegawa Y, Kaneuchi M, Yoshida A, Kinoshita A, Yoshiura KI, Masuzaki H.
    • Journal Title

      Prenat Diagn

      Volume: 34 Pages: 345-349

    • DOI

      10.1002/pd.4307

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-26462495

  • [Journal Article] Circulating levels of maternal plasma cell-free pregnancy-associated placenta-specific microRNAs are associated with placental weight2014
    • Author(s)
      Miura K, Morisaki S, Abe S, Higashijima A, Hasegawa Y, Miura S, Tateishi S, Mishima H, Yoshiura K, Masuzaki H.
    • Journal Title

      Placenta

      Volume: 35 (10) Pages: 848-851

    • DOI

      10.1016/j.placenta.2014.06.002

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26462495

  • [Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome.2014
    • Author(s)
      Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
    • Journal Title

      Neuromuscul Disord

      Volume: 5 Pages: 4011-4011

    • DOI

      10.1038/ncomms5011

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26860816

  • [Journal Article] 遺伝性疾患におけるエクソーム解析の有用性と近将来2013
    • Author(s)
      吉浦孝一郎
    • Journal Title

      医学のあゆみ

      Volume: 245 Pages: 363-368

    • Data Source
      KAKENHI-PROJECT-24390199

  • [Journal Article] Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix.2013
    • Author(s)
      Hamaguchi D, Miura K, Abe S, Kinoshita A, Miura S, Yamasaki K, Yoshiura K, Masuzaki H
    • Journal Title

      J Med Virol

      Volume: 85 Pages: 2093-2100

    • DOI

      10.1002/jmv.23709

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25550033

  • [Journal Article] Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer2013
    • Author(s)
      Abe, S, Miura, K, Kinoshita, A, Mishima, H, Miura, S, Yamasaki, K, Hasegawa, Y, Higashijima, A, Jo, O, Sasaki, K, Yoshida, A, Yoshiura, KI, Masuzaki.
    • Journal Title

      J Hum Genet

      Volume: 58 Pages: 250-253

    • DOI

      10.1038/jhg.2013.7

    • NAID

      10031177218

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-13J11173, KAKENHI-PROJECT-22591827, KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-23791230, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25462563

  • [Journal Article] 発作性運動誘発性舞踏アテトーゼの分子メカニズム2013
    • Author(s)
      黒滝直宏, 小野慎治, 小澤寛樹, 吉浦孝一郎
    • Journal Title

      神経内科

      Volume: 79(6) Pages: 719-725

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461733

  • [Journal Article] PharmacogeneticsofhumanABCtransporterABCC11:Newinsights intoapocrineglandgrowthand metabolite secretion2013
    • Author(s)
      Ishikawa T, Toyoda Y, Yoshiura K, Niikawa N
    • Journal Title

      Frontiers in Genetics

      Volume: 306: 1-13

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] 全エクソーム解析における情報処理2013
    • Author(s)
      三嶋博之
    • Journal Title

      医学のあゆみ

      Volume: 245 Pages: 345-351

    • Data Source
      KAKENHI-PROJECT-25430183

  • [Journal Article] Malfunction of the ERCC1/XPF endonuclease results in diverse clinical manifestations and causes three nucleotide excision-repair-deficient disorders, Cockayne Syndrome, xeroderma pigmentosum and Fanconi Anemia2013
    • Author(s)
      Kashiyama, K, Nakazawa, Y, Pilz, DT, Guo, C, Sasaki, K, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 92 Pages: 1-13

    • DOI

      10.1016/j.ajhg.2013.04.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-13J11173, KAKENHI-PROJECT-22710056, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24659533, KAKENHI-PROJECT-24790321, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-25870534

  • [Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome2013
    • Author(s)
      Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
    • Journal Title

      American Journal of Medical Genetics, part A.

      Volume: 161 Pages: 2234-2243

    • DOI

      10.1002/ajmg.a.36072

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23590383, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24591531, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915

  • [Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.2013
    • Author(s)
      Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H.
    • Journal Title

      Eur J Hum Genet.

      Volume: 21（11） Pages: 1316-1319

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461648

  • [Journal Article] 遺伝性疾患におけるエクソーム解析の有用性と近将来2013
    • Author(s)
      吉浦孝一郎
    • Journal Title

      医学のあゆみ

      Volume: 245(5) Pages: 363-368

    • Data Source
      KAKENHI-PROJECT-25550033

  • [Journal Article] Pharmacogenetics of human ABC transporter ABCC11: New insights into apocrine gland growth and metabolite secretion2013
    • Author(s)
      Toshihisa Ishikawa, Yu Toyoda, Koh-ichiro Yoshiura, Norio Niikawa
    • Journal Title

      Frontiers in Genetics

      Volume: 3 Pages: 1-13

    • DOI

      10.3389/fgene.2012.00306

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-12J03163, KAKENHI-PROJECT-22390066

  • [Journal Article] プロテアソーム病2012
    • Author(s)
      井田弘明、有馬和彦、金澤伸雄、吉浦孝一郎
    • Journal Title

      炎症と免疫

      Volume: 20 Pages: 609-614

    • Data Source
      KAKENHI-PROJECT-22591094

  • [Journal Article] No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population.2012
    • Author(s)
      Hikida M, Tsuda M, Watanabe A
    • Journal Title

      Cleft Palaete Craniofac Journal

      Volume: (掲截確定) Pages: 714-717

    • DOI

      10.1597/10-242

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22792018, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403

  • [Journal Article] Mutations in PRRT2responsible for paroxysmal kinesinic dyskinesias also cause benign familial infantile convulsions2012
    • Author(s)
      Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N
    • Journal Title

      J Hum Genet

      Volume: 57: 338-341

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.2012
    • Author(s)
      Nakazawa Y, Sasaki K, Mitsutake N, Yamashita S, Ogi T, et al
    • Journal Title

      Nat. genet.

      Volume: 44(5) Pages: 586-592

    • DOI

      10.1038/ng.2229

    • NAID

      120006985586

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390189, KAKENHI-PROJECT-22710056, KAKENHI-PROJECT-22791204, KAKENHI-PROJECT-23510065, KAKENHI-PROJECT-23590355, KAKENHI-PROJECT-24300328, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24659533, KAKENHI-PROJECT-24681008, KAKENHI-PROJECT-24790321

  • [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions2012
    • Author(s)
      Ono S, Yoshiura KI, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N
    • Journal Title

      J Hum Genet

      Volume: 57(5) Pages: 338-41

    • NAID

      10030663240

    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] 中條-西村症候群の原因遺伝子とプロテアソーム機能異常2012
    • Author(s)
      井田弘明、有馬和彦、金澤伸雄、吉浦孝一郎
    • Journal Title

      リウマチ科

      Volume: 47 Pages: 654-660

    • Data Source
      KAKENHI-PROJECT-22591094

  • [Journal Article] The Ruby UCSC API : accessing the UCSC genome database using Ruby.2012
    • Author(s)
      Hiroyuki Mishima
    • Journal Title

      BMC Bioinformatics

      Volume: 13 Pages: 1471-2105

    • DOI

      10.1186/1471-2105-13-240

    • NAID

      120006985547

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791230, KAKENHI-PROJECT-24390199

  • [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions2012
    • Author(s)
      Ono S, Yoshiura K , KinoshitaA, Kikuchi T, Nakane Y, Kato N,Sadamatsu M , Konishi T , Nagamitsu S , Matsuura M, Yasuda A, KomineM, Kanai K , Inoue T , Osamura T , Saito K , Hirose S, Koide H, Tomita H , Ozawa H , Niikawa N and Kurotaki N.
    • Journal Title

      J Hum Genet,

      Volume: 57 Pages: 281-287

    • DOI

      10.1038/jhg.2012.23

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24659535, KAKENHI-PROJECT-22591263, KAKENHI-PLANNED-22132004, KAKENHI-PLANNED-24116007

  • [Journal Article] Clinical and molecular analysis of synchronous double lung cancers.2012
    • Author(s)
      Arai J, Yoshiura K, et al
    • Journal Title

      Lung Cancer

      Volume: 77 Pages: 281-287

    • DOI

      10.1016/j.lungcan.2012.04.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390199

  • [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions2012
    • Author(s)
      Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N
    • Journal Title

      J Hum Genet, Jun

      Volume: 57(6) Pages: 399-399

    • NAID

      10030663240

    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups.2012
    • Author(s)
      Matsuse M, Suzuki K, Saenko V, Mitsutake N, Yamashita S, et al
    • Journal Title

      PLoS One

      Volume: 7(4)

    • DOI

      10.1371/journal.pone.0036063

    • NAID

      120006985474

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390189, KAKENHI-PROJECT-22791204, KAKENHI-PROJECT-23591357, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24591369

  • [Journal Article] Agile parallel bioinformatics workflow management using Pwrake2011
    • Author(s)
      Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura KI
    • Journal Title

      BMC Res Notes Sep

      Volume: 8 Pages: 331-331

    • NAID

      120006985006

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
    • Author(s)
      Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana
    • Journal Title

      ProcNatlAcadSci

      Volume: 108(36) Pages: 14914-14919

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma : Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays2011
    • Author(s)
      Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura KI
    • Journal Title

      Breast J

      Volume: 17(4) Pages: 427-430

    • NAID

      120006985138

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred2011
    • Author(s)
      Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K.
    • Journal Title

      EurRespir J

      Volume: 38(4) Pages: 861-869

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] 中條-西村症候群2011
    • Author(s)
      金澤伸雄、有馬和彦、井田弘明、吉浦孝一郎、古川福実
    • Journal Title

      日本臨床免疫学会

      Volume: 34 Pages: 388-400

    • NAID

      10029898048

    • Data Source
      KAKENHI-PROJECT-22591094

  • [Journal Article] Assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome2011
    • Author(s)
      Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K
    • Journal Title

      Proc Natl Acad Sci (PNAS)

      Volume: 108 (36): 14914-14919

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Significance of Genomic Instability in Breast Cancer in Atomic Bomb Survivors : Analysis of Microarray-Comparative Genomic Hybridization2011
    • Author(s)
      Oikawa M, Yoshiura KI, Kondo H, Miura S, Nagayasu T, Nakashima M.
    • Journal Title

      RadiatOnco

      Volume: 16(1) Pages: 168-168

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Coding region polymorphisms in the indoleamine 2, 3-dioxygenase(INDO) gene and recurrent spontaneous abortion2011
    • Author(s)
      Amani D, Ravangard F, Niikawa N, Yoshiura KI, Karimzadeh M, Dehaghani AS, Ghaderi A.
    • Journal Title

      J ReprodImmunol

      Volume: 88(1) Pages: 42-47

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women2011
    • Author(s)
      Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H.
    • Journal Title

      J Hum Genet

      Volume: 56(4) Pages: 313-315

    • NAID

      10030658951

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] 特集II自己炎症症候群中條-西村症候群の臨床と病態2011
    • Author(s)
      井田弘明、吉浦孝一郎、金澤伸雄
    • Journal Title

      炎症と免疫

      Volume: 19 Pages: 153-157

    • Data Source
      KAKENHI-PROJECT-22591094

  • [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families2011
    • Author(s)
      Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
    • Journal Title

      Mov Disord

      Volume: 26(4) Pages: 761-763

    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] Agile parallel bioinformatics workflow management using Pwrake2011
    • Author(s)
      Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura KI.
    • Journal Title

      BMC Res Notes Sep 8

      Volume: 4(1) Pages: 331-331

    • NAID

      120006985006

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Agile parallel bioinformatics workflow management using Pwrake2011
    • Author(s)
      Mishima, et al
    • Journal Title

      BMC Research Notes

      Volume: 4(1) Pages: 331-331

    • DOI

      10.1186/1756-0500-4-331

    • NAID

      120006985006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390100, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23791230

  • [Journal Article] Significance of Genomic Instability in Breast Cancer in Atomic Bomb Survivors : Analysis of Microarray-Comparative Genomic Hybridization2011
    • Author(s)
      Oikawa M, Yoshiura KI, Kondo H, Miura S, Nagayasu T, Nakashima M
    • Journal Title

      Radiat Oncol

      Volume: 6(1) Pages: 168-168

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology2011
    • Author(s)
      Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H.
    • Journal Title

      ObstetGynaecol Res

      Volume: 37(11) Pages: 1666-1670

    • NAID

      120006985461

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice2011
    • Author(s)
      Okada I, Hamanoue H., Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, FuruichiT, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki
    • Journal Title

      Am J Hum Genet

      Volume: 88(1) Pages: 1-12

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Mutationand Copy Number Analysis in Paroxysmal Kinesigenic DyskinesiaFamilies2011
    • Author(s)
      Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A.
    • Journal Title

      Movement Disorders

      Volume: 26(4) Pages: 762-764

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Mutation and Copy Number Analysis in Paroxysmal Kinesigenic Dyskinesia Families2011
    • Author(s)
      Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
    • Journal Title

      Movement Disorders

      Volume: 26(4) Pages: 762-764

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] SMOC1is essential for ocular and limb development in humans and mice2011
    • Author(s)
      Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
    • Journal Title

      Am J Hum Genet 7

      Volume: 88(1): 30-41

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion2011
    • Author(s)
      Amani D, Ravangard F, Niikawa N, Yoshiura K, Karimzadeh M, Dehaghani AS, Ghaderi A
    • Journal Title

      J Reprod Immunol

      Volume: 88(1): 42-47

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Proteasome assembly defect due to a proteasome subunit beta type 8(PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.2011
    • Author(s)
      Arima, K., Kinoshita, A., Mishima, H., Kanazawa, N., Kaneko, T., Mizushima, T., Ichinose, K., Nakamura, H., Tsujino, A., Kawakami, A., Matsunaka, M., Kasagi, S., Kawano, S., Kumagai, S., Ohmura, K., Mimori, T., Hirano, M., Ueno, S., Tanaka, K., Tanaka, M., Toyoshima, I., Sugino, H., Yamakawa, A., Tanaka, K., Niikawa, N., Furukawa, F., Murata, S., Eguchi, K., Ida, H., Yoshiura, K.
    • Journal Title

      Proceedings of the National Academy of Sciences of the United States of America

      Volume: 108 Pages: 14914-14919

    • DOI

      10.1073/pnas.1106015108

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21000012, KAKENHI-PROJECT-21591097, KAKENHI-PROJECT-22591094, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23500455, KAKENHI-PROJECT-23591651, KAKENHI-PROJECT-23657083, KAKENHI-PROJECT-23791115, KAKENHI-PROJECT-23791230

  • [Journal Article] 中條-西村症候群2011
    • Author(s)
      金澤伸雄、有馬和彦、井田弘明、吉浦孝一郎、古川福実
    • Journal Title

      日本臨床免疫学会誌

      Volume: 34 Pages: 388-400

    • NAID

      10029898048

    • Data Source
      KAKENHI-PROJECT-22591094

  • [Journal Article] Maternal uniparentalisodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome2011
    • Author(s)
      Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N.
    • Journal Title

      Clin Genet

      Volume: 80 Pages: 478-483

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Coding region polymorphisms in the indoleamine 2, 3-dioxygenase(INDO) gene and recurrent spontaneous abortion2011
    • Author(s)
      Amani D, Ravangard F, Niikawa N, Yoshiura KI, Karimzadeh M, Dehaghani AS, Ghaderi A
    • Journal Title

      J Reprod Immunol

      Volume: 88(1) Pages: 42-47

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.2011
    • Author(s)
      Ono S, Yoshiura KI, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
    • Journal Title

      Mov Disord

      Volume: 2001 Feb 10. doi : 10.1002/mds.23475.(Epub ahead of print 印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders2011
    • Author(s)
      Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H.
    • Journal Title

      J Hum Genet

      Volume: 56(4) Pages: 296-299

    • NAID

      10030658849

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred2011
    • Author(s)
      Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K
    • Journal Title

      Eur Respir J

      Volume: 38(4) Pages: 861-869

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011
    • Author(s)
      Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ
    • Journal Title

      Am J Med Genet A

      Volume: 155A(7):1511-1516

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome2011
    • Author(s)
      Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N
    • Journal Title

      Clin Genet

      Volume: 80 Pages: 478-483

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice2011
    • Author(s)
      Okada I, Hamanoue H., Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusak
    • Journal Title

      Am J Hum Genet

      Volume: 88(1) Pages: 1-12

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Spectrum of MLL2(ALR) mutations in 110 cases of Kabuki syndrome2011
    • Author(s)
      Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Lian
    • Journal Title

      Am J Med Genet A

      Volume: 155A(7) Pages: 1511-1516

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis2011
    • Author(s)
      Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H.
    • Journal Title

      PLos One

      Volume: 6(5)

    • NAID

      120006985084

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology2011
    • Author(s)
      Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
    • Journal Title

      J Obstet Gynaecol Res

      Volume: 37(11) Pages: 1666-1670

    • NAID

      120006985461

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women2011
    • Author(s)
      Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H
    • Journal Title

      J Hum Genet

      Volume: 56(4) Pages: 313-315

    • NAID

      10030658951

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis2011
    • Author(s)
      Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H
    • Journal Title

      PLos One

      Volume: 6(5)

    • NAID

      120006985084

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
    • Author(s)
      Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana K, Niikawa N, Furukawa F, Shigeo Murata S, Eguchi K, Ida H, Yoshiura K
    • Journal Title

      Proc Natl Acad Sci

      Volume: 108(36) Pages: 14914-14919

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Spectrum of MLL2(ALR) mutations in 110 cases of Kabuki syndrome2011
    • Author(s)
      Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Lian
    • Journal Title

      Am J Med Genet A

      Volume: 155A(7) Pages: 1511-1516

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families2011
    • Author(s)
      Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
    • Journal Title

      Mov Disord

      Volume: 26: 761-763

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma : Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays2011
    • Author(s)
      Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura KI.
    • Journal Title

      Breast J

      Volume: 17(4) Pages: 427-430

    • NAID

      120006985138

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders2011
    • Author(s)
      Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H
    • Journal Title

      J Hum Genet

      Volume: 56(4) Pages: 296-299

    • NAID

      10030658849

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis2011
    • Author(s)
      Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Ozawa H
    • Journal Title

      PLoS one

      Volume: 6(5)

    • NAID

      120006985084

    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma2010
    • Author(s)
      Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H.
    • Journal Title

      Prenatal Diagnosis

      Volume: 30 Pages: 849-861

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome2010
    • Author(s)
      Matsuzawa N, Kondo K, Shimozato K, Nagao T, Nakano M, Hirano A, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet

      Volume: 152 A: 2262-2267

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome2010
    • Author(s)
      Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
    • Journal Title

      Nat Genet

      Volume: 42(9) Pages: 790-793

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma2010
    • Author(s)
      Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H
    • Journal Title

      Clin Chem

      Volume: 56(11) Pages: 1767-1771

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.2010
    • Author(s)
      Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y
    • Journal Title

      Twin Res Hum Genet

      Volume: 13(5) Pages: 455-460

    • NAID

      120006984891

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia2010
    • Author(s)
      Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y
    • Journal Title

      Twin Res Hum Genet

      Volume: 13(5) Pages: 455-460

    • NAID

      120006984891

    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC112010
    • Author(s)
      Ota I, Sakurai A, Toyoda Y, Morita S, Sasaki T, Chishima T, Yamakado M, Kawai Y, Ishidao T, Lezhava A, Yoshiura K-i, Togo S, Hayashizaki Y, Ishikawa T, Ishikawa T, Endo I and Shimada H.
    • Journal Title

      Anticancer Res

      Volume: 30(12) Pages: 5189-5194

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11 : linkage analysis with clipped fingernail DNA on high-density SNP array2010
    • Author(s)
      Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K.
    • Journal Title

      Eur J Med Genet

      Volume: 53(5) Pages: 244-249

    • NAID

      120006984921

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] DNAマイクロアレイを用いた統合失調症のホモ接合マッピング2010
    • Author(s)
      黒滝直弘, 三嶋博之, 田崎信也, 菊池妙子, 西田奈央, 徳永勝士, 吉浦孝一郎, 小澤寛樹
    • Journal Title

      精神薬療研究年報

      Volume: 42 Pages: 31-32

    • Data Source
      KAKENHI-PROJECT-22591263

  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p122010
    • Author(s)
      Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
    • Journal Title

      J Hum Genet 55

      Pages: 124-126

    • NAID

      10030733799

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome2010
    • Author(s)
      Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, NiikawaN, Nickerson DA, BamshadMJ, Shendure J
    • Journal Title

      Nature Genet

      Volume: 42: 790-793

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia2010
    • Author(s)
      Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y
    • Journal Title

      Twin Res Hum Genet

      Volume: 13(5) Pages: 455-460

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome2010
    • Author(s)
      Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K, Harada N
    • Journal Title

      Clinical genetics Vol.20

      Pages: 1399-1404

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21791565

  • [Journal Article] A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 12010
    • Author(s)
      Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H.
    • Journal Title

      Hum Reprod

      Volume: 25(4) Pages: 1076-1080

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome2010
    • Author(s)
      atsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K.
    • Journal Title

      m J Med Genet A

      Volume: 152A(9) Pages: 2262-2267

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome2010
    • Author(s)
      Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet A

      Volume: 152A(9) Pages: 2262-2267

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] 特集II 自己炎症症候群中條-西村症候群の臨床と病態2010
    • Author(s)
      井田弘明、吉浦孝一郎、金澤伸雄
    • Journal Title

      炎症と免疫

      Volume: 19 Pages: 153-157

    • Data Source
      KAKENHI-PROJECT-22591094

  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24. 2-p24. 1 or 2p21-p122010
    • Author(s)
      Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K.
    • Journal Title

      J Hum Genet

      Volume: 55(2) Pages: 124-126

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24. 2-p24. 1 or 2p21-p122010
    • Author(s)
      Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
    • Journal Title

      J Hum Genet

      Volume: 55(2) Pages: 124-126

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Endo I and Shimada H. Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC112010
    • Author(s)
      Ota I, Sakurai A, Toyoda Y, Morita S, Sasaki T, Chishima T, Yamakado M, Kawai Y, Ishidao T, Lezhava A, Yoshiura K-i, Togo S, Hayashizaki Y, Ishikawa T, Ishikawa T
    • Journal Title

      Anticancer Res

      Volume: 30(12) Pages: 5189-5194

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome2010
    • Author(s)
      Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura KI, Kitaoka T
    • Journal Title

      J Hum Genet

      Volume: 55(3) Pages: 142-146

    • NAID

      10030733893

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome2010
    • Author(s)
      Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura KI, Kitaoka T.
    • Journal Title

      J Hum Genet

      Volume: 55(3) Pages: 142-146

    • NAID

      10030733893

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome2010
    • Author(s)
      Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J.
    • Journal Title

      Nat Genet

      Volume: 42(9) Pages: 790-793

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 12010
    • Author(s)
      Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H
    • Journal Title

      Hum Reprod

      Volume: 25(4) Pages: 1076-1080

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma2010
    • Author(s)
      Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H
    • Journal Title

      Prenatal Diagnosis

      Volume: 30 Pages: 849-861

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p122010
    • Author(s)
      Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Kishino T,Kinoshita A, Niikawa N, Hirano A, Yoshiura K
    • Journal Title

      J Hum Genet

      Volume: 55: 124-126

    • NAID

      10030733799

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11 : linkage analysis with clipped fingernail DNA on high-density SNP array2010
    • Author(s)
      Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K
    • Journal Title

      Eur J Med Genet

      Volume: 53(5) Pages: 244-249

    • NAID

      120006984921

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma2010
    • Author(s)
      Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H.
    • Journal Title

      ClinChem

      Volume: 56(11) Pages: 1767-1771

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array2010
    • Author(s)
      Oikawa M, Kuniba H, Kondo T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K
    • Journal Title

      Eur J Med Genet

      Volume: 63: 244-249

    • NAID

      120006984921

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066

  • [Journal Article] Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia2010
    • Author(s)
      Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y.
    • Journal Title

      Twin Res Hum Genet

      Volume: 13(5) Pages: 455-460

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/ or Palate2009
    • Author(s)
      Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC.
    • Journal Title

      Twin Res Hum Genet

      Volume: 12(5) Pages: 462-468

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene2009
    • Author(s)
      Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N
    • Journal Title

      BMC Genet

      Volume: 10 Pages: 42-42

    • NAID

      120006983999

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene2009
    • Author(s)
      Miyazaki K, Mapendano CK, Fuchigami Y, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T
    • Journal Title

      Gene 432

      Pages: 97-101

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Earwax, osmidrosis, and breast cancer : Why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?2009
    • Author(s)
      Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura K, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T
    • Journal Title

      FASEB J 23(6)

      Pages: 2001-2013

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/ Snrpn gene2009
    • Author(s)
      Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura KI, Niikawa N, Kishino T.
    • Journal Title

      Gene

      Volume: 432(1-2) Pages: 97-101

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D2009
    • Author(s)
      Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N.
    • Journal Title

      Am J Med Genet A

      Volume: 149A(4) Pages: 785-787

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Why does one SNP in human ABC transporter ABCC11 gene determine earwax type? Critical role of N-glycosyation and proteasomal degradation2009
    • Author(s)
      Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura K, Nakagawa H, Sakai Y, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T
    • Journal Title

      FASEB J (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11. 232009
    • Author(s)
      Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N.
    • Journal Title

      Am J Med Genet A

      Volume: 149A(3) Pages: 336-342

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.2009
    • Author(s)
      Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N.
    • Journal Title

      BMC Genet.

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19570227

  • [Journal Article] Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/ or Palate2009
    • Author(s)
      Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC.
    • Journal Title

      Twin Res Hum Genet

      Volume: 12(5) Pages: 462-468

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia2009
    • Author(s)
      Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J.
    • Journal Title

      Am J Med Genet A

      Volume: 149A(4) Pages: 816-818

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
    • Author(s)
      Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
    • Journal Title

      J Hum Genet

      Volume: 54(5) Pages: 304-309

    • NAID

      10030730501

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11.232009
    • Author(s)
      Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N
    • Journal Title

      Am J Med Genet 149A

      Pages: 336-342

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
    • Author(s)
      Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N.
    • Journal Title

      J Hum Genet

      Volume: 54(5) Pages: 304-309

    • NAID

      10030730501

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Earwax, osmidrosis, and breast cancer : why does one SNP(538G>A)in the human ABC transporter ABCC11 gene determine earwax type?2009
    • Author(s)
      Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura KI, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T
    • Journal Title

      FASEB Journal 23

      Pages: 2001-2013

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19570227

  • [Journal Article] Earwax, osmidrosis, and breast cancer : why does one SNP(538G> A) in the human ABC transporter ABCC11 gene determine earwax type2009
    • Author(s)
      Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura KI, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T.
    • Journal Title

      FASEB J

      Volume: 23(6) Pages: 2001-2013

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia2009
    • Author(s)
      Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J
    • Journal Title

      Am J Med Genet A

      Volume: 149A(4) Pages: 816-818

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia.2009
    • Author(s)
      Wu L, Niikawa N, Yoshiura K, et al
    • Journal Title

      Am J Med Genet 149A(4)

      Pages: 816-818

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
    • Author(s)
      Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
    • Journal Title

      J Hum Genet 54

      Pages: 304-309

    • NAID

      10030730501

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Searching for genes for cleft lip and/ or palate based on breakpoint analysis of a balanced translocation t(9 ; 17)(q32 ; q12)2009
    • Author(s)
      Machida J, Felix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T.
    • Journal Title

      Cleft Palate Craniofac J

      Volume: 46(5) Pages: 532-540

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Searching for genes for cleft lip and/ or palate based on breakpoint analysis of a balanced translocation t(9 ; 17)(q32 ; q12)2009
    • Author(s)
      Machida J, Felix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T
    • Journal Title

      Cleft Palate Craniofac J

      Volume: 46(5) Pages: 532-540

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] A strong association of body odor and axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene2009
    • Author(s)
      Miwa N, Nakano M, Nakashima M, Miura S, Miura K. Masuzaki H, Hirano A, Yoshiura K, Niikawa N
    • Journal Title

      BMC Genetics (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Earwax, osmidrosis, and breast cancer why does one SNP(538G> A) in the human ABC transporter ABCC11 gene determine earwax type?2009
    • Author(s)
      Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura KI, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T.
    • Journal Title

      FASEB J

      Volume: 23(6) Pages: 2001-2013

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D2009
    • Author(s)
      Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N
    • Journal Title

      Am J Med Genet 149A

      Pages: 785-787

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.2009
    • Author(s)
      Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N
    • Journal Title

      BMC Genetic 10 : 42

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19570227

  • [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene2009
    • Author(s)
      Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N
    • Journal Title

      BMC Genet 10

      Pages: 42-44

    • NAID

      120006983999

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Earwax, osmidrosis, and breast cancer: Why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?2009
    • Author(s)
      Toyoda Y, Yoshiura K, Niikawa N, et al
    • Journal Title

      FASEB J 23(6)

      Pages: 2001-2013

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11. 232009
    • Author(s)
      Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N
    • Journal Title

      Am J Med Genet A

      Volume: 149A(3) Pages: 336-342

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia2009
    • Author(s)
      Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang F, Sato D, Nishimura G, Dai H, Zhang H, Xia J
    • Journal Title

      Am J Med Genet 149A

      Pages: 816-818

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene2009
    • Author(s)
      Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N.
    • Journal Title

      BMC Genet

      Volume: 10 Pages: 42-42

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D2009
    • Author(s)
      Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N.
    • Journal Title

      Am J Med Genet A

      Volume: 149A(4) Pages: 785-787

    • Data Source
      KAKENHI-PROJECT-22659071

  • [Journal Article] Earwax, osmidrosis, and breast cancer : Why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?2009
    • Author(s)
      Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura K, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T
    • Journal Title

      FASEB J 23(6)

      Pages: 2001-2013

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Japanese map of the earwax gene frequency: a nation-wide collaborative study by Super Science High School (SSH) Consortium.2009
    • Author(s)
      Yoshiura K, Kinoshita A, Ohta T, Niikawa N, et al
    • Journal Title

      J Hum Genet 54

      Pages: 499-503

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/ Snrpn gene2009
    • Author(s)
      Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura KI, Niikawa N, Kishino T
    • Journal Title

      Gene

      Volume: 432(1-2) Pages: 97-101

    • Data Source
      KAKENHI-PROJECT-21390100

  • [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D2009
    • Author(s)
      Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura K, Niikawa N
    • Journal Title

      American Journal of Medical Genetics Part A Vol.149(A)

      Pages: 785-787

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21791565

  • [Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA2008
    • Author(s)
      Nakashima M, Tsuda M, Kishino T, Kondoh S, Kinoshita A, Shimokawa O, Niikawa N, Yoshiura K
    • Journal Title

      Clin Chem 54

      Pages: 1746-1748

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A Down syndrome girl with partial trisomy for 21pter-q22. 13: A clue to narrow the Down syndrome critical region.2008
    • Author(s)
      Sato D, Niikawa N, Yoshiura K, et al
    • Journal Title

      Am J Med Genet 146A(1)

      Pages: 124-127

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome2008
    • Author(s)
      Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Matsumoto N, Niikawa N
    • Journal Title

      Am J Med Genet 146

      Pages: 1893-1896

    • NAID

      120006980738

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family2008
    • Author(s)
      Nakashima M, Nakano M, Hirano A, Kishino T, Kondoh S, Miwa N, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 53

      Pages: 34-41

    • NAID

      10021247449

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family2008
    • Author(s)
      Nakashima M, Nakano M, Hirano A, Kishino T, Kondoh S, Miwa N, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 53(1)

      Pages: 34-41

    • NAID

      10021247449

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Pre- and postnatal overgrowth in a patient with proximal 4p deletion2008
    • Author(s)
      Wu LQ, Long Z, Liang DS, Harada N, Pan Q, Yoshiura, K, Xia K, Dai HP, Niikawa N, Xia JH
    • Journal Title

      Am J Med Genet 146A

      Pages: 791-794

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.2008
    • Author(s)
      Kuniba H, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Med Genet 146A

      Pages: 1893-1896

    • NAID

      120006980738

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan2008
    • Author(s)
      Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura K, Niikawa N
    • Journal Title

      J Med Genet 45

      Pages: 479-480

    • NAID

      120006983369

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.2008
    • Author(s)
      Nakashima M, Niikawa N, Yoshiura K, et al
    • Journal Title

      J Hum Genet 53(1)

      Pages: 34-41

    • NAID

      10021247449

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A haplotype, NAT2*6A, of the N-acetyltransferase 2 gene is an important biomarker for a risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis2008
    • Author(s)
      Higuchi N, Tahara N, Yanagihara K, Fukushima K, Suyama N, Inoue Y, Miyazak Y, Kobayashi T, Yoshiura K, Niikawa N, Isomoto H, Shikuwa S, MizutaY, Kohno S, Tsukamoto K
    • Journal Title

      World J Gastroenterol 13

      Pages: 6003-6008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A Down syndrome girl with partial trisomy for 2lpter-q22.13: A clue to narrow the Down syndrome critical region2008
    • Author(s)
      Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Aria T, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 146A

      Pages: 124-127

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.2008
    • Author(s)
      Kuniba H, Kinoshita A, Yoshiura K, Niikawa N, et al
    • Journal Title

      J Med Genet 45(7)

      Pages: 479-480

    • NAID

      120006983369

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A Down syndrome girl with partial trisomy for 2lpter-g22.13 : A clue to narrow the Down syndrome critical region2008
    • Author(s)
      Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Ariga T, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 146A

      Pages: 124127-124127

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb102007
    • Author(s)
      Yamasaki Y, Kayashima T, Mapendano CK, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T
    • Journal Title

      Mol Cell Biol 27(2)

      Pages: 732-742

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.2007
    • Author(s)
      Miura K, Yoshiura K, Niikawa N, et al
    • Journal Title

      Hum Genet 121(5)

      Pages: 631-633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Quantitative structure-activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1).2007
    • Author(s)
      Sakurai A, Onishi Y, Hirano H, Seigneuret M, Obanayama K, Kim G, Liew EL, Sakaeda T, Yoshiura K, Niikawa N, Sakurai M, Ishikawa T.
    • Journal Title

      Biochemistry 46

      Pages: 7678-7693

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18059027

  • [Journal Article] Paroxysmal kinesigenic choreoathetosis (PKC): Confirmation of linkage of to 16p11-q21 but unsuccessful detection of mutations among 158 genes at the PKC-critical region in seven PKC families.2007
    • Author(s)
      Kikuchi, T., Yoshiura K., Niikawa N, et al
    • Journal Title

      J Hum Genet 52

      Pages: 334-341

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Congenital arhinia: Molecular-genetic analysis of five patients2007
    • Author(s)
      Sato D, Shimokawa O, Harada N, OlsenOE, Hou J-W, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 143A

      Pages: 546-552

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A syndactyly type IV locus maps to 7q362007
    • Author(s)
      Sato D, Liang DS, Wu LQ, Nishimura G, Yoshiura K. Xia JH, Niikaw a N: A syndactyly type IV locus maps to 7q36
    • Journal Title

      J Hum Genet 52(6)

      Pages: 561-564

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Opitz C (trigonocephaly) syndrome caused by deficiency of a member of the immunoglobulin superfamily, CD96.2007
    • Author(s)
      Kaname T, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Hum Genet 81(4)

      Pages: 835-841

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Quantitative SAR analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB12007
    • Author(s)
      Sakurai A, Onishi Y, Hirano H, Seigneuret M, Obanayama K, Kim GW. Liew EL, Sakaeda T, Yoshiura K, Niikawa N, Sakurai M, Ishikawa T
    • Journal Title

      J Biochem 46(26)

      Pages: 7678-7693

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Quantitative SAR analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB12007
    • Author(s)
      Sakurai A, Onishi Y, Hirano H, Seigneuret M, ObanayamaK, Kim GW.Liew EL, Sakaeda T, Yoshiura K, Niikawa N, Sakurai M, Ishikawa T
    • Journal Title

      Journal of Biochemistry 46

      Pages: 7678-7693

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Paroxysmal kinesigenic choreoathetosis (PKC) : Confirmation of linkage of to 16p11-q21 but unsuccessful detection of mutations among 158 genes at the PKC-critical region in seven PKC families.2007
    • Author(s)
      Kikuchi, T., Nomura, M., Tomita, H., Harada, N., Kato, N., Yoshiura, K., Niikawa N
    • Journal Title

      Journal of Human Genetics (In press)

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb102007
    • Author(s)
      YamasaKi Y, Kayashima T, Mapendano CK, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T
    • Journal Title

      Moleculr Cell Biology 27 (2)

      Pages: 732-742

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A syndactyly type IV locus maps to 7q36.2007
    • Author(s)
      Sato D, Yoshiura K, Niikawa N, et al
    • Journal Title

      J Hum Genet 52(6)

      Pages: 561-564

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland2007
    • Author(s)
      Miura K, Yoshiura K, Miura S, Shimada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H
    • Journal Title

      Hum Genet 121

      Pages: 631-633

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.2007
    • Author(s)
      Shiels A, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Hum Genet 81(3)

      Pages: 596-606

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q2007
    • Author(s)
      Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI
    • Journal Title

      Am J Hum Genet 81(3)

      Pages: 596-606

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Quantitative SAR analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB12007
    • Author(s)
      Sakurai A, Onishi Y, Hirano H, Seigneuret M, Obanayama K, Kim GW. Liew EL, Sakaeda T, Yoshiura K, Niikawa N, Sakurai M, Ishikawa T
    • Journal Title

      J Biochem 46(26)

      Pages: 7678-7693

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland2007
    • Author(s)
      Miura K, Yoshiura K, Miura S, Shimada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H
    • Journal Title

      Human Genetics 121

      Pages: 631-633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Paroxysmal kinesigenic choreoathetosis (PKC): Confirmation of linkage of to 16p1l-q21 but unsuccessful detection of mutations among 158 genes at the PKC-crit ical region in seven PKC families2007
    • Author(s)
      Kikuchi, T., Nomura, , M., Tomita, H., Harada, N., Kato, N., Yoshiura, K., Niikawa N
    • Journal Title

      J Hum Genet 52

      Pages: 334-341

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] PTCH1 mutations in four Japanese families with as cell nevus syndrome2007
    • Author(s)
      Matsuzawa N, Nagao T, Niikawa N, Shimozato K, Yoshiura K: PTCH1 mutations in four Japanese families with basal cell nevus syndrome
    • Journal Title

      J Clin Pathol 59(10)

      Pages: 1084-1086

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Quantitative SAR analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1.2007
    • Author(s)
      Sakurai A, Yoshiura K, Niikawa N, et al
    • Journal Title

      J Biochem 46(26)

      Pages: 7678-7693

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Congenital arhinia : Molecular-genetic analysis of five patients2007
    • Author(s)
      Sato D, Shimokawa O, Harada N, OlsenOE, Hou J-W, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Niikawa N, Yoshiura K
    • Journal Title

      American Journal of Medical Genetics (in press)

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Opitz C (trigonocephaly) syndrome caused by deficiency of a member of the immunoglobulin superfamily, CD962007
    • Author(s)
      Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Ohwan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fuku shima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
    • Journal Title

      Am J Hum Genet 81(4)

      Pages: 835-841

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Congenital arhinia: Molecular-genetic analysis of five patients.2007
    • Author(s)
      Sato D, Kinoshita A, Niikawa N, Yoshiura K, et al
    • Journal Title

      Am J Med Genet 143A

      Pages: 546-552

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland2007
    • Author(s)
      Miura K, Yoshiura K, Miura S, Shi mada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H
    • Journal Title

      Hum Genet 121(5)

      Pages: 631-633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.2007
    • Author(s)
      Miura K, Yoshiura K, Miura S, Shimada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H.
    • Journal Title

      Hum Genet. 121(5)

      Pages: 631-633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19570227

  • [Journal Article] A father and son with mental retardation, a characteristic face inv(12), and insertion trisomy 12p12. 3-p11. 2.2006
    • Author(s)
      Liang D, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Med Genet 140A

      Pages: 238-244

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese : Population-based and family-based candidate gene analyses2006
    • Author(s)
      Ichikawa E, Niikawa N, Yoshiura K, et al.
    • Journal Title

      Journal of Human Genetics 51

      Pages: 38-46

    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrom patients2006
    • Author(s)
      Miyake N, Yoshiura K, Ohta T, Niikawa N et al.
    • Journal Title

      American Journal of Medical Genetics 140A

      Pages: 205-211

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation.2006
    • Author(s)
      Miyake N, Yoshiura K, Ohta T, Niikawa N, et al
    • Journal Title

      Am J Med Genet 140A

      Pages: 205-211

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid2006
    • Author(s)
      Miura, S., Miura, K., Masuzaki, H., Miyake, N., Yoshiura, K., Sosonkina, N., Harada, N., Shimokawa, O., Nakayama, D., Yoshimura, S., Matsumoto, N., Niikawa N, Ishimaru, T
    • Journal Title

      Journalof Human Genetics 51

      Pages: 412-417

    • NAID

      10019167823

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type.2006
    • Author(s)
      Yoshiura K.
    • Journal Title

      Nature Genetics 38 (3)

      Pages: 324-330

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17590288

  • [Journal Article] A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type.2006
    • Author(s)
      Yoshiura K.
    • Journal Title

      Nature Genetics 38

      Pages: 324-330

    • Data Source
      KAKENHI-PROJECT-18059027

  • [Journal Article] A SNP in the ABCC11 gene is the determinant of human earwax : type.2006
    • Author(s)
      Yoshiura K, Niikawa, N, et al.
    • Journal Title

      Nat Genet 38

      Pages: 324-330

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type.2006
    • Author(s)
      Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa A, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N.
    • Journal Title

      Nature Genet. 38(3)

      Pages: 324-330

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17590288

  • [Journal Article] SNP in the ABCC11 gene is the determinant of human earwax type.2006
    • Author(s)
      Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Linag D-S, Miwa N, Kim D-K, Ariuntuul G, Natsume N, Ohta T, Tomita H, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N
    • Journal Title

      Nat Genet 38

      Pages: 324-330

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] PTCH1 mutations in four Japanese families with basal cell nevus syndrome2006
    • Author(s)
      Matsuzawa N, Nagao T, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      Journal of Clinical Pathology (In press)

    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese : Population-based an family-based candidate gene analyses.2006
    • Author(s)
      Ichikawa E, Niikawa N, Yoshiura K, et al.
    • Journal Title

      J Hum Genet 51

      Pages: 38-46

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] SNP in the ABCC11 gene is the determinant of human earwax type.2006
    • Author(s)
      Yoshiura K, Kinoshita A, Ohta T, Niikawa N, et al
    • Journal Title

      Nat Genet 38

      Pages: 324-330

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [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] Cell-free DNA as a more sensitive molecular marker for evaluation of fetal-maternal hemorrhage than cell-free mRNA2006
    • Author(s)
      Miura, K., Yoshiura, K., Miura, S., Yamasaki, K., Yoshida, A., Shimada, T., Fujimoto, Y., Nakayama, D., Ishimaru, T., Wagstaff, J., Niikawa N, Masuzaki, J
    • Journal Title

      Clinical Chemistry 52

      Pages: 2121-2123

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.2006
    • Author(s)
      Miura, S., Yoshiura K., Niikawa N, et al
    • Journal Title

      J Hum Genet 51

      Pages: 412-417

    • NAID

      10019167823

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Lack of association between the TGF-β1 gene polymorphisms an recurrent spontaneous abortion.2006
    • Author(s)
      Amani D, Yoshiura K, Niikawa N, et al.
    • Journal Title

      J Reprod Immunol (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A novel missense mutation in Van der Woude syndrome : Usefulness of fingernail DNA for genetic analysis2006
    • Author(s)
      Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K
    • Journal Title

      Journal of Dental Research 85 (12)

      Pages: 1143-1146

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A novel missense mutation.(E349V) in a large family with Van der Woude syndrome : Linkage and mutation studies with fingernail DNA.2006
    • Author(s)
      Matsuzawa N, Natsume N, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Dent Res (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation2006
    • Author(s)
      Miyake N, Yoshiura K, Ohta T, Niikawa N et al.
    • Journal Title

      American Journal of Medical Genetics 140A

      Pages: 291-293

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14q11.2-q13.2006
    • Author(s)
      Higashimoto I, Yoshiura K, Hirakawa N, Higashimoto K, Soejima H, Totoki T., Mukai T, Niikawa N
    • Journal Title

      Am J Med Genet 140A(6)

      Pages: 565-572

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14q11.2-q132006
    • Author(s)
      Higashimoto I, Yoshiura K, Hirakawa N, Higashimoto K, Soejima H, Totoki T, Mukai T, Niikawa N
    • Journal Title

      American Journal of Medical Genetics 140A (6)

      Pages: 567-572

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14q11.2-q132006
    • Author(s)
      Higashimoto I, Yoshiura K, Hirakawa N, Higashimoto K, Soejima H, Totoki T, Mukai T, Niikawa N
    • Journal Title

      American Journal of Medical Genetics (In press)

    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese : Population-based and family-based candidate gene analyses.2006
    • Author(s)
      Ichikawa E, Watanabe A, Nakano Y, Hirano A, Akita S, Kinoshita A, Kondo, S, Kishino, T, Uchiyama T, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 51

      Pages: 38-46

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p232006
    • Author(s)
      Kawara, H., Yamamoto, T., Harada, N., Yoshiura, K., Niikawa N, Nishimura, A., Mizuguchi, T., Matsumoto, N
    • Journal Title

      American Journal of Medical Genetics 140A(14)

      Pages: 373-377

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type2006
    • Author(s)
      Yoshiura K. et al.
    • Journal Title

      Nature Genetics 38(3)

      Pages: 327-330

    • Data Source
      KAKENHI-PROJECT-17590288

  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14q11. 2-q13.2006
    • Author(s)
      Higashimoto I, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Med Genet 140A(6)

      Pages: 567-572

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A SNP in the ABCC11 gene is the determinant of human earwax type2006
    • Author(s)
      Yoshiura K, Niikawa N, et al.
    • Journal Title

      Nature Genetics In press

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] 耳垢型はABCC11遺伝子の一塩基多型によって決定されている2006
    • Author(s)
      吉浦孝一郎、新川詔夫
    • Journal Title

      医学のあゆみ 217(13)

      Pages: 1197-1198

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.2006
    • Author(s)
      Miyake N, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 140A

      Pages: 291-293

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14g11.2-q132006
    • Author(s)
      Higashimoto I, Yoshiura K, Niikawa N, et al.
    • Journal Title

      Am J Med Genet (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A father and son with mental retardation, a characteristic face inv(12), and insertion trisomy 12p12.3-p11.22006
    • Author(s)
      Liang D, Wu L, Pan Q, Harada N, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J
    • Journal Title

      American Journal of Medical Genetics 140A

      Pages: 233-244

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] PTCH1 mutations in four Japanese families with basal cell nevus syndrome.2006
    • Author(s)
      Matsuzawa N, Nagao T, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Clin Pathol (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.2006
    • Author(s)
      Miyake N, Yoshiura K, Ohta T, Niikawa N, et al
    • Journal Title

      Am J Med Genet 140A

      Pages: 291-293

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type.2006
    • Author(s)
      Yoshiura K.
    • Journal Title

      Nature Genetics 38(3)

      Pages: 324-330

    • Data Source
      KAKENHI-PROJECT-17590288

  • [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] 耳垢型はABCC11遺伝子の一塩基多型によって決定されている2006
    • Author(s)
      吉浦孝一郎
    • Journal Title

      医学の歩み 217・13

      Pages: 1197-1198

    • Data Source
      KAKENHI-PROJECT-18059027

  • [Journal Article] A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate2006
    • Author(s)
      Watanabe A, Akita S, NatsumeN, Nakano Y, Niikawa N, Uchiyama T, Yoshiura K
    • Journal Title

      Cleft Palate Craniofacial Journal 43(3)

      Pages: 310-316

    • NAID

      10020437393

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] 耳垢型は一塩基の違いで決定される2006
    • Author(s)
      吉浦孝一郎、新川詔夫
    • Journal Title

      バイオニクス 6

      Pages: 68-69

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] A novel missense mutation(E349V) in a large family with Van der Woude syndrome Linkage and mutation studies with fingernail DNA2006
    • Author(s)
      Matsuzawa N, Natsume N, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      Journal of Dental Research (In press)

    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation.2006
    • Author(s)
      Miyake N, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 140A

      Pages: 205-211

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] 耳垢型はABCC11遺伝子の一塩基多型によって決定されている2006
    • Author(s)
      吉浦孝一郎
    • Journal Title

      医学の歩み 217・13

      Pages: 1197-1198

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17590288

  • [Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese: Population-based and family-based candidate gene analyses.2006
    • Author(s)
      Ichikawa E, Kinoshita A, Niikawa N, Yoshiura K, et al
    • Journal Title

      J Hum Genet 51(1)

      Pages: 38-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Molecular characterization of del(8)(p23. 1p23. 1) in a case of congenital diaphragmatic hernia.2005
    • Author(s)
      Shimokawa O, Ohta T, Kinoshita A, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Med Genet 136A

      Pages: 49-51

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [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] 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, Niikawa N, Yoshiura K, et al
    • Journal Title

      Am J Med Genet A133

      Pages: 13-17

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005
    • Author(s)
      Miyake N, Visser R, Kinoshita A, Yoshiura K, Harada N, Okamoto N, Sonoda T, Kaname T, Chinen Y, Naritomi K, Tonoki H, Kondoh T, Kurosawa K, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 135A

      Pages: 103-105

    • NAID

      120006981060

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A large deletion involving the 5'-UTR in the spastin gene cause mild phenotype of autosomal dominant hereditary spastic paraplegia.2005
    • Author(s)
      Iwanaga H, Niikawa N, Yoshiura K, et al.
    • Journal Title

      Am J Med Genet 133A

      Pages: 13-17

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005
    • Author(s)
      Miyake N, Kinoshita A, Yoshiura K, Niikawa N, et al
    • Journal Title

      Am J Med Genet 135A

      Pages: 103-105

    • NAID

      120006981060

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome2005
    • Author(s)
      Miyake N, Yoshiura K, Niikawa N, Matsumoto N, et al.
    • Journal Title

      American Journal of Medical Genetics 135A

      Pages: 103-105

    • NAID

      120006981060

    • Data Source
      KAKENHI-PROJECT-17019055

  • [Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005
    • Author(s)
      Miyake N, Yoshiura K, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 135A

      Pages: 103-105

    • NAID

      120006981060

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] 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 A.Feb 133(1)

      Pages: 13-17

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590291

  • [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] Heterozygous TGFBR2 mutations in Marfan syndrome.2004
    • Author(s)
      Mizuguchi T, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Nat Genet 36

      Pages: 855-860

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Interferon regulatory factor 6(IRF6) gene variants confer risk for isolated cleft Lip and palate.2004
    • Author(s)
      Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidra! AC, Field LL, Liu Y, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita, ML, Murray JC
    • Journal Title

      New Engl J Med 351

      Pages: 769-780

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590291

  • [Journal Article] A T25G mutation in the IRF6 gene in a Japanese family with Van der Woude syndrome.2004
    • Author(s)
      Matsuzawa N, Yoshiura K, Niikawa N, et al.
    • Journal Title

      Oral Surg Oral Med Oral PatholOral Radiol Endod 98

      Pages: 414-417

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] TGFB1 mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain- specific mutations.2004
    • Author(s)
      Kinoshita A, Niikawa N, Yoshiura K, et al.
    • Journal Title

      Am J Med Genet 127A

      Pages: 104-107

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A T25G mutation in the IRF6 gene in a Japanese family with Van der Woude syndrome.2004
    • Author(s)
      Matsuzawa N, Nakamura T, Niimi T, Furukawa H, Toyoda T, Yoshiura K, Niikawa N, Natsume N, Shimozato K
    • Journal Title

      Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98

      Pages: 414-417

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] TGFB1 mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain-specific mutations.2004
    • Author(s)
      Kinoshita A, Shirahama A, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Seidel J, Fukumaki Y, Ikegawa S, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 127A

      Pages: 104-107

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.2004
    • Author(s)
      Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N
    • Journal Title

      J Med Genet 41(7)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] An isolated congenital anosmia locus maps to 18p11.23-g12.22004
    • Author(s)
      Ghadami M, Miikawa N, Yoshiura K, et al.
    • Journal Title

      J Med Genet 41

      Pages: 299-303

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Heterozygous TGFBR2 mutations in Marfan syndrome.2004
    • Author(s)
      Mizuguchi T, Collod-Beroud G, Abifadel M, Akiyama T, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Fukukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N
    • Journal Title

      Nat Genet 36(8)

      Pages: 855-860

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Familial isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families : A new clinical entity?2004
    • Author(s)
      Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Najafi M-T, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 127A(3)

      Pages: 307-309

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Familial isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families : A new clinical entity?2004
    • Author(s)
      Chadami M, Miikawa N, Yoshiura K, et al.
    • Journal Title

      Am J Med Genet 127A

      Pages: 307-309

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] An isolated congenital anosmia locus maps to 18p11.23-q12.2.2004
    • Author(s)
      Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Pasalar P, Komatsu K, Najafi MT, Niikawa N, Yoshiura K
    • Journal Title

      J Med Genet 41

      Pages: 299-303

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A novel GATA4 mutation completely segregated with atrial septal defect in a large Japnese family.2004
    • Author(s)
      Okubo A, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      J Med Genet 41

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [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] A novel mutation, 1234del (C), of the IRF6 in a Thai family wit van der Woude syndrome.2003
    • Author(s)
      Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N
    • Journal Title

      Int J Mol med 11

      Pages: 505-507

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A novel mutation, 1234del(C), of the IRF6 in a Thai family with van der Woude syndrome.2003
    • Author(s)
      Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N
    • Journal Title

      Int J Mol Med 11(4)

      Pages: 505-507

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Fifty microdeletions among 112 cases of Sotos syndrome : Lo copy repeats possibly mediate the common deletion.2003
    • Author(s)
      Kurotaki N, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Hum Mut 22

      Pages: 378-387

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Haploinsufficiency of the NSD1 gene causes Sotos syndrome.2002
    • Author(s)
      Kyrotaki N, Naritomi K, Yoshiura K, Kishino T, Niikawa N. et al.
    • Journal Title

      Nat Genet 30

      Pages: 365-366

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Confirmation of genetic homogeneity of non-syndromic low frequency sensorineural hearing loss by linkage analysis an DFNA6/14 mutations in a Japanese family.2002
    • Author(s)
      Komatsu K Kishino K, Niikawa N, Yoshiura K, et al.
    • Journal Title

      J Hum Genet 47

      Pages: 395-399

    • NAID

      50000580507

    • Description
      「研究成果報告書概要(和文)」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] Confirmation of genetic homogeneity of non-syndromic low frequency sensorineural hearing loss by linkage analysis and DFNA6/14 mutations in a Japanese family.2002
    • Author(s)
      Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino K, Ohta T, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 47

      Pages: 395-399

    • NAID

      50000580507

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Domain-specific mutations of a Transforming growth factor (TGF)-b1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-b1.2001
    • Author(s)
      Saito T, Kinoshita A, Yoshiura K, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N
    • Journal Title

      J Biol Chem 276

      Pages: 11469-11472

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Domain-specific mutations of a Transforming growth factor (TGF)-b1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-b1.2001
    • Author(s)
      Saito T, Kinoshita A, Yoshiura K, Mak i t a Y, Wakui K, Honke K, Niikawa N, Taniguchi N
    • Journal Title

      J Biol Chem 276

      Pages: 11469-11472

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.2001
    • Author(s)
      Ghadami M, Majidzadeh-A K, Haerian B-S, Damavandi E, Yamada K, Pasallar P, Nishimura G, Tomita H-A, Yoshiura K, Niikawa N
    • Journal Title

      Am J Med Genet 104

      Pages: 147-151

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.2001
    • Author(s)
      Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N
    • Journal Title

      Gene 279

      Pages: 197-204

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.2001
    • Author(s)
      Ghadami M, Yoshiura K, NiikawalT, et al.
    • Journal Title

      Am J Med Genet 104

      Pages: 147-151

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A novel missense mutation (E349V) in a large family with Van der Woude syndrome : Linkage and mutation studies with fingernail DNA.
    • Author(s)
      Matsuzawa N, Natsume N, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Dent Res (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] PTCH1 mutations in four Japanese families with basal cell nevus syndrome.
    • Author(s)
      Matsuzawa N, Nagao T, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Clin Pathol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Journal Article] A strong association of body odor and axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene
    • Author(s)
      Miwa N, Nakano M, Nakashima M, Miura S, Miura K, Masuzaki H, Hirano A, Yoshiura K, Niikawa N
    • Journal Title

      BMC Genetics (in press)

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Japan map of the earwax gene frequency : A nation-wide collaborative study by Super Science High School(SSH)
    • Author(s)
      Satoshi Sakai, Kazumi Imai, Takashi Ogawa, Hiroshi Iwaoka, Mikiko Ishii, Shinichiro Komori, Toyohiko Yoshida, Hideyuki Jumonji, Keiji Iizumi, Hiroshi Ohshima, Toshiaki Maeda, Akira Kanno, Kenji Takahashi, Hiroto Kubota, Yoko Inoue, Yoshiyuki Takahashi, Hiroshi Onoda, Rie Uchiyama, Michihiko Matsuda, Takashi Akazawa, Naohiro Kawamura, Toru Odagiri, Yasuharu Watanabe, Yukihiro Matsumoto, Seiji Shinoda, * Masato Terada, Manabu Matsuoka, Chikara Ueno, Etsuo Ozaki, Sadafusa Takaya, Tetsuharu Takeyama, Toshiaki Hujita, Kazuya Kawakatsu, Junichi Takemura, Hitonori Maekawa, Tomoko Doei, Shigeru Ihara, Yuji Sakaguchi, Yasuyuki Hirota, Akihiko Shindo, Hiroko Araki, Junko Miura, Tatsumi Morita, Takayuki Fujiwara, Haruhiko Akiyama, Shinya Itome, Yoshihisa Tanaka, Kazunori Nakagawa, Sumito Okamoto, Shushi Yamamoto, Takaaki Aoyagi, Toru Noda, Shinichi Inoue, Isao Hirota, Kiyoshi Tanaka, Tetsuya Nagashima, Iwao Koga, Kayo Watanabe, Hideto Kusadome, Hirosi Otsuka, Tosifumi Takayama, Hiroshi Miwa, Atsushi Hamakawa, Katsunori China, Norio Niikawa, Tohru Ohta, Dmytro Starenki, Ken Umehara, Kensuke Yamada, Yoichi Shimada, Hiroyuki Nagasawa, Takashi Minato, Toshihiko Ogino, Koh-ichiro Yoshiura, Nobutomo Miwa, Masayo Nomura, Hideo Kuniba, Yasuko Noguchi, Shinji Ono, Masayoshi Tsuda, Mitsuko Nakashima, Taeko Kikuchi, Daisuke Satoh, Tatsuya Kishino, Shinji Kondo, Akira Kinoshita
    • Journal Title

      Consortium(J Hum Genet) (in press)

    • Data Source
      KAKENHI-PROJECT-19390095

  • [Journal Article] Lack of association between the TGF-b1 gene polymorphisms and recurrent spontaneous abortion.
    • Author(s)
      Amani D, Dehaghani SA, Zolghadri J, Ravangard F, Niikawa N, Yoshiura K, Ghaderi A
    • Journal Title

      J Reprod Immunol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Patent] 自己炎症疾患又は自己免疫疾患関連遺 伝子及びその利用2011
    • Inventor(s)
      長崎大学:吉浦孝一郎、久留米大学:井田弘明 、和歌山県立医科大学:金澤伸雄
    • Industrial Property Rights Holder
      長崎大学:吉浦孝一郎、久留米大学:井田弘明 、和歌山県立医科大学:金澤伸雄
    • Industrial Property Number
      2011-177269
    • Filing Date
      2011-08-12
    • Data Source
      KAKENHI-PROJECT-22591094

  • [Patent] 自己炎症疾患又は自己免疫疾患関連遺伝子及びその利用2011
    • Inventor(s)
      吉浦孝一郎、井田弘明、金澤伸雄
    • Industrial Property Rights Holder
      吉浦孝一郎、井田弘明、金澤伸雄
    • Industrial Property Number
      2011-177269
    • Filing Date
      2011-08-12
    • Data Source
      KAKENHI-PROJECT-22591094

  • [Patent] 耳垢型又は腋下臭症の評価方法2007
    • Inventor(s)
      新川詔夫,吉浦孝一郎
    • Industrial Property Rights Holder
      新川詔夫,吉浦孝一郎
    • Filing Date
      2007-12-14
    • Overseas
    • Data Source
      KAKENHI-PROJECT-18059027

  • [Patent] 耳垢型又は腋下臭症の評価方法2007
    • Inventor(s)
      新川詔夫、吉浦孝一郎
    • Industrial Property Rights Holder
      長崎大学長
    • Filing Date
      2007-12-14
    • Overseas
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Patent] 耳垢型又は腋下臭症の評価方法2007
    • Inventor(s)
      新川 詔夫、吉浦 孝一郎
    • Industrial Property Rights Holder
      長崎大学長
    • Filing Date
      2007-12-14
    • Overseas
    • Data Source
      KAKENHI-PROJECT-19390095

  • [Patent] 耳垢型又は腋下臭症の評価方法2007
    • Inventor(s)
      新川詔夫、吉浦孝一郎
    • Industrial Property Rights Holder
      長崎大学
    • Filing Date
      2007-12-14
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Patent] 耳垢型又は腋下臭症の評価方法2007
    • Inventor(s)
      新川詔夫、吉浦孝一郎
    • Acquisition Date
      2007-12-14
    • Data Source
      KAKENHI-PROJECT-19390095

  • [Patent] 耳垢型又は腋下臭症の評価方法2005
    • Inventor(s)
      吉浦孝一郎, 新川詔夫
    • Industrial Property Rights Holder
      吉浦孝一郎, 新川詔夫
    • Industrial Property Number
      2005-178563
    • Filing Date
      2005-06-17
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17590288

  • [Patent] 耳垢型または腋下臭症の評価方法2005
    • Inventor(s)
      新川詔夫, 吉浦孝一郎
    • Industrial Property Rights Holder
      出願者 国立大学法人長崎大学
    • Industrial Property Number
      2005-178563
    • Filing Date
      2005-06-17
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024

  • [Patent] 耳垢型又は腋窩臭症の評価方法2005
    • Inventor(s)
      新川詔夫, 吉浦孝一郎
    • Industrial Property Rights Holder
      長崎大学長
    • Industrial Property Number
      2005-178563
    • Filing Date
      2005-06-17
    • Data Source
      KAKENHI-PROJECT-17019055

  • [Patent] 耳垢型又は腋下臭症の評価方法2005
    • Inventor(s)
      吉浦孝一郎, 新川詔夫
    • Industrial Property Rights Holder
      吉浦孝一郎, 新川詔夫
    • Industrial Property Number
      2005-178563
    • Filing Date
      2005-06-17
    • Data Source
      KAKENHI-PROJECT-18059027

  • [Presentation] 次世代シークエンサーを用いた歌舞伎症候群の新規DNAメチル化サイトの検索2021
    • Author(s)
      濵口 陽，三嶋博之，河合智子，斎藤伸治，秦 健一郎，木下 晃，吉浦孝一郎．
    • Organizer
      日本人類遺伝学会第66回大会/第28回日本遺伝子診療学会大会 合同開催
    • Data Source
      KAKENHI-PROJECT-20H03591

  • [Presentation] 無細胞インフラマソーム再構成系による自己炎症疾患に対する分子標的薬の開発2021
    • Author(s)
      増本純也, 金子直恵, 倉田美恵, 山本敏弘, 重村倫成, 上松一永, 山崎崇志, 谷内江昭宏, 浦野健, 右田清志, 吉浦 孝一郎, 古賀智裕, 川上純.
    • Organizer
      第4回日本免疫不全・自己炎症学会総会・学術集会 2021年　2月6～7日
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03719

  • [Presentation] PatakaraPlus: The project for individuals with Down Syndrome to develop oral and physical training and evaluation2020
    • Author(s)
      Mishima H, Kitahara T, Yoshiura, KI, Komatsu T, Lee M, Kondoh T.
    • Organizer
      日本人類遺伝学会第65回大会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 重度の成長障害，精神運動発達遅滞を認めたOgden症候群の女児例．2020
    • Author(s)
      川野奈々江，福島直喜，吉浦孝一郎，井原健二．
    • Organizer
      第42回小児遺伝学会学術集会　（コロナウイルス禍により開催中止）
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] PatakaraPlus: The project for individuals with Down Syndrome to develop oral and physical training and evaluation.2020
    • Author(s)
      Hiroyuki Mishima, Tetsuro Kitahara, Koh-Ichiro Yoshiura, Tomoko Komatsu, Masaichi Lee, Tatsuro Kondoh.
    • Organizer
      日本人類遺伝学会第65回大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03591

  • [Presentation] A case of CREBBP exon 31 de novo missense mutation presented with insomnia and intellectual disability without Rubinstein-Taybi syndrome phonotype.2020
    • Author(s)
      Yoriko Watanabe, Kaori Fukui K, Koichiro Yoshiura, Yushiro Yamashita.
    • Organizer
      2020 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting（コロナウイルス禍により開催中止）
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] A case of CREBBP exon 31 de novo missense mutation presented with insomnia and intellectual disability without Rubinstein-Taybi syndrome phonotype.2020
    • Author(s)
      Yoriko Watanabe, Kaori Fukui K, Koichiro Yoshiura, Yushiro Yamashita.
    • Organizer
      2020 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting　（コロナウイルス禍により開催中止）
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] A case of COL4A1-related disorder diagnosed by exome sequencing at adult period.2020
    • Author(s)
      中尾理沙，里 龍晴，林田 拓也，西口奈菜子，渡辺 聡，吉浦孝一郎，森内浩幸
    • Organizer
      第62回 日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] 無細胞NLRP3インフラマソーム再構成系によるMuckle-Wells症候群に対する分子標的薬の開発2020
    • Author(s)
      増本純也, 重村倫成, 重村倫成, 上松一永, 山崎崇志, 谷内江昭宏, 浦野健, 右田清志, 吉浦孝一郎, 古賀智裕, 川上純.
    • Organizer
      第64回日本リウマチ学会総会・学術集会 , 2020年　8月17日～9月15日
    • Data Source
      KAKENHI-PROJECT-20H03719

  • [Presentation] Cardiac Emerinopathy, Novel Non-syndromic X-linked Left Ventricular Noncompaction Associated with Progressive Atrial Conduction Disturbance2020
    • Author(s)
      Ishikawa T, Aiba T, Ohno S, Yoshiura K, Makita N et al.
    • Organizer
      第84回日本循環器学会学術集会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 重度の成長障害，精神運動発達遅滞を認めたOgden症候群の女児例．2020
    • Author(s)
      川野奈々江，福島直喜，吉浦孝一郎，井原健二．
    • Organizer
      第42回小児遺伝学会学術集会　（コロナウイルス禍により開催中止）
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] 新しいゲノム解析技術 ~メチル化解析~2020
    • Author(s)
      吉浦孝一郎
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03591

  • [Presentation] 新しいゲノム解析技術－メチル化解析－2020
    • Author(s)
      吉浦 孝一郎
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 成人期に診断に至ったCOL4A1変異関連疾患の1例2020
    • Author(s)
      中尾理沙，里 龍晴，林田 拓也，西口奈菜子，渡辺 聡，吉浦孝一郎，森内浩幸
    • Organizer
      第62回 日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] ラット放射線誘発甲状腺癌モデルによる被曝特異的分子マーカーの網羅的探索2020
    • Author(s)
      黒濵大和、松田勝也、木住野美緒、松山睦美、赤澤祐子、木下　晃、吉浦孝一郎、中島正洋
    • Organizer
      第109回日本病理学会総会
    • Data Source
      KAKENHI-PROJECT-20K07424

  • [Presentation] 新しいゲノム解析技術 ~メチル化解析~2020
    • Author(s)
      吉浦孝一郎
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] PatakaraPlus: The project for individuals with Down Syndrome to develop oral and physical training and evaluation.2020
    • Author(s)
      Hiroyuki Mishima, Tetsuro Kitahara, Koh-Ichiro Yoshiura, Tomoko Komatsu, Masaichi Lee, Tatsuro Kondoh
    • Organizer
      日本人類遺伝学会第65回大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] Comprehensive analysis of radiation-specific molecular markers during rat radiation-induced thyroid carcinogenesis2020
    • Author(s)
      Kurohama H, Matsuda K, Matsuyama M, Kinoshita A, Yoshiura K, Nakashima M
    • Organizer
      The 4th International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07424

  • [Presentation] ヒト正常圧水頭症の原因遺伝子2019
    • Author(s)
      吉浦 孝一郎，森本芳郎，吉田真太朗，菰原義弘，松田勝也，中島正洋，三嶋博之，木下晃，小野慎治．
    • Organizer
      第4回 放射線災害・医科学研究拠点カンファランス
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 本邦における先天性形態以上症候群患者の顔貌画像を用い他診断補助システムFace2Geneの評価．2019
    • Author(s)
      三嶋博之，鈴木寿人，近藤達郎，吉浦孝一郎，小崎健次郎．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 周産期領域における遺伝カウンセリング2019
    • Author(s)
      長谷川ゆり, 宮田海香子, 三浦生子, 吉浦孝一郎, 三浦清徳
    • Organizer
      第64回 日本人類遺伝学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] IRUDによって原因遺伝子が確定した家族の出生前検査に対する思い．2019
    • Author(s)
      宮田海香子，松本 正，高尾真未，三嶋博之，三浦清徳，吉浦孝一郎．
    • Organizer
      第26回 出生前から小児期にわたるゲノム医療フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 乳がん患者における血漿遊離DNA (cfDNA) 濃度と血漿循環腫瘍DNA (ctDNA) の解析．2019
    • Author(s)
      及川将弘，瀬戸口優美香，榎本康子，久松和史，濱田哲夫，大坪竜太，松本 恵，矢野 洋，永安 武，三嶋博之，木下 晃，吉浦孝一郎．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] FAS遺伝子のcompound heterozygous frameshift mutationを有する腸管MALTリンパ腫の若年例2019
    • Author(s)
      小浴秀樹，山下友佑，田 志宣，金澤伸雄，大島孝一，三嶋博之，木下 晃，吉浦 孝一郎，園木 孝志
    • Organizer
      第2回　日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] ヒト正常圧水頭症の原因遺伝子2019
    • Author(s)
      吉浦 孝一郎，森本芳郎，吉田真太朗，菰原義弘，松田勝也，中島正洋，三嶋博之，木下晃，小野慎治．
    • Organizer
      第4回 放射線災害・医科学研究拠点カンファランス
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] ヒト正常圧水頭症の原因遺伝子2019
    • Author(s)
      吉浦孝一郎, 森本芳郎, 吉田真太朗, 菰原義弘, 松田勝也, 中島正洋, 三嶋博之, 木下晃, 小野慎治
    • Organizer
      第4回 放射線災害・医科学研究拠点カンファランス
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] Genome Sequence for diagnosis and successive research of genetic disorders．2019
    • Author(s)
      吉浦孝一郎
    • Organizer
      The 13th World Congress of The International Cleft Lip and Palate Foundation，第59回 日本先天異常学会学術集会
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] 本邦における先天性形態以上症候群患者の顔貌画像を用い他診断補助システムFace2Geneの評価．2019
    • Author(s)
      三嶋博之，鈴木寿人，近藤達郎，吉浦孝一郎，小崎健次郎．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] LARP7遺伝子複合ヘテロ接合体変異によるAlazami症候群の2症例2019
    • Author(s)
      伊達木澄人, 里龍晴, 渡辺聡, 宮田海香子, 近藤達郎, 松本正, 吉浦孝一郎, 森内浩幸
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] IRUDによって原因遺伝子が確定した家族の出生前検査に対する思い2019
    • Author(s)
      宮田海香子, 松本正, 高尾真未, 三嶋博之, 三浦清徳, 吉浦孝一郎
    • Organizer
      第26回 出生前から小児期にわたるゲノム医療フォーラム
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] LARP7遺伝子複合ヘテロ接合体変異によるAlazami症候群の２症例．2019
    • Author(s)
      伊達木澄人，里 龍晴，渡辺 聡，宮田海香子，近藤達郎，松本 正，吉浦孝一郎，森内浩幸．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Cardiac Emerinopathy, Novel Nonsyndromic Xlinked Left Ventricular Noncompaction Associated With Progressive Atrial Conduction Disturbance2019
    • Author(s)
      Ishikawa T., Barc J., Mishima H., Hirono K., Terada S., Kowase S., Sato T., Mukai Y., Yui Y., Ohkubo K., Kimoto H., Hata Y., Aiba T., Ohno S., Chishaki A., Shimizu W., Horie M., Ichida F., Nogami A., Yoshiura K., Schott JJ., Makita N.
    • Organizer
      The 40th Heart Rhythm Society Scientific Sessions
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 次世代シーケンサーを用いた日本全域の家族性地中海熱患者におけるMEFV遺伝子の包括的解析．2019
    • Author(s)
      古賀智裕，三嶋博之，宮田海香子，三浦清徳，吉浦孝一郎，川上 純．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 次世代シーケンサーを用いた日本全域の家族性地中海熱患者におけるMEFV遺伝子の包括的解析2019
    • Author(s)
      古賀智裕, 三嶋博之, 宮田海香子, 三浦清徳, 吉浦孝一郎, 川上純
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 本邦における先天性形態以上症候群患者の顔貌画像を用い他診断補助システムFace2Geneの評価2019
    • Author(s)
      三嶋博之, 鈴木寿人, 近藤達郎, 吉浦孝一郎, 小崎健次郎
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 当院のIRUD の実績と遺伝カウンセリングの実際．2019
    • Author(s)
      高尾真未，宮田海香子，松本 正，三嶋博之，三浦清徳，吉浦孝一郎．
    • Organizer
      第26回 出生前から小児期にわたるゲノム医療フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 乳がん患者における血漿遊離DNA (cfDNA) 濃度と血漿循環腫瘍DNA (ctDNA) の解析．2019
    • Author(s)
      及川将弘，瀬戸口優美香，榎本康子，久松和史，濱田哲夫，大坪竜太，松本 恵，矢野 洋，永安 武，三嶋博之，木下 晃，吉浦孝一郎．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] Genome Sequence for diagnosis and successive research of genetic disorders2019
    • Author(s)
      吉浦孝一郎
    • Organizer
      第59回 日本先天異常学会学術集会
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 次世代シーケンサーを用いた日本全域の家族性地中海熱患者におけるMEFV遺伝子の包括的解析．2019
    • Author(s)
      古賀智裕，三嶋博之，宮田海香子，三浦清徳，吉浦孝一郎，川上 純．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] 周産期領域における遺伝カウンセリング．2019
    • Author(s)
      長谷川ゆり，宮田海香子，三浦生子，吉浦孝一郎，三浦清徳．
    • Organizer
      第64回 日本人類遺伝学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 当院のIRUD の実績と遺伝カウンセリングの実際2019
    • Author(s)
      高尾真未, 宮田海香子, 松本正, 三嶋博之, 三浦清徳, 吉浦孝一郎
    • Organizer
      第26回 出生前から小児期にわたるゲノム医療フォーラム
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] Genome Sequence for diagnosis and successive research of genetic disorders．2019
    • Author(s)
      吉浦孝一郎
    • Organizer
      The 13th World Congress of The International Cleft Lip and Palate Foundation
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] FAS遺伝子のcompound heterozygous frameshift mutationを有する腸管MALTリンパ腫の若年例．2019
    • Author(s)
      小浴秀樹，山下友佑，田 志宣，金澤伸雄，大島孝一，三嶋博之，木下 晃，吉浦 孝一郎，園木 孝志．
    • Organizer
      第2回　日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] LARP7遺伝子複合ヘテロ接合体変異によるAlazami症候群の２症例．2019
    • Author(s)
      伊達木澄人，里 龍晴，渡辺 聡，宮田海香子，近藤達郎，松本 正，吉浦孝一郎，森内浩幸．
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] IRUDによって原因遺伝子が確定した家族の出生前検査に対する思い．2019
    • Author(s)
      宮田海香子，松本 正，高尾真未，三嶋博之，三浦清徳，吉浦孝一郎．
    • Organizer
      第26回 出生前から小児期にわたるゲノム医療フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] 周産期領域における遺伝カウンセリング．2019
    • Author(s)
      長谷川ゆり，宮田海香子，三浦生子，吉浦孝一郎，三浦清徳．
    • Organizer
      第64回 日本人類遺伝学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] 当院のIRUD の実績と遺伝カウンセリングの実際．2019
    • Author(s)
      高尾真未，宮田海香子，松本 正，三嶋博之，三浦清徳，吉浦孝一郎．
    • Organizer
      第26回 出生前から小児期にわたるゲノム医療フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K22913

  • [Presentation] Genome Sequence for diagnosis and successive research of genetics disorders2019
    • Author(s)
      吉浦孝一郎
    • Organizer
      第59回日本先天異常学会学術集会
    • Data Source
      KAKENHI-PLANNED-18H05506

  • [Presentation] 乳がん患者における血漿遊離DNA (cfDNA) 濃度と血漿循環腫瘍DNA (ctDNA) の解析2019
    • Author(s)
      及川将弘, 瀬戸口優美香, 榎本康子, 久松和史, 濱田哲夫, 大坪竜太, 松本恵, 矢野洋, 永安武, 三嶋博之, 木下晃, 吉浦孝一郎
    • Organizer
      第64回 日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] CFAP43遺伝子の機能喪失性変異は正常圧水頭症のリスク因子の可能性がある．2018
    • Author(s)
      森本芳郎，小野慎治，吉田真太朗，三嶋博之，木下 晃，今村 明，黒滝直弘，小澤寛樹，木住野達也，吉浦孝一郎，山口尚宏．
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 新規LIG4遺伝子変異を導入したLIG4症候群モデルマウス．2018
    • Author(s)
      山下友佑，田村志宣，福田有里，小笹俊哉，金澤伸雄，邊見弘明，吉浦孝一郎改正恒康，園木孝志
    • Organizer
      第80回日本血液学会学術集会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Evans症候群および低ガンマグロブリン血症を発症した歌舞伎症候群の一例．2018
    • Author(s)
      蒸野寿紀，南 弘一，鈴木啓之，森尾友宏，今井耕輔，三嶋博之，吉浦孝一郎，田村志宣，山下友佑，園木 孝志．
    • Organizer
      第1回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 妊娠を契機に深部静脈血栓症を発症し，原因遺伝子を特定出来たAT-3欠乏症の1例．2018
    • Author(s)
      長谷川ゆり，東島 愛，大橋和明，三浦清徳，吉浦孝一郎，増﨑英明
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Impaired development of dendritic cells in proteasome subunit mutant mice．2018
    • Author(s)
      Hiroaki Hemmi, Toshiya Ozasa, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
    • Organizer
      第47回日本免疫学会学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] ROBO1遺伝子ホモ変異は，複合型下垂体機能低下症を伴う新たな症候群の原因か？2018
    • Author(s)
      伊達木澄人，渡辺 聡，吉浦孝一郎，森内浩幸
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Rare Coding Variants in Genes Other Than SCN5A Are Minimal Genetic Burden on the Prognosis of Brugada Syndrome2018
    • Author(s)
      Ishikawa T., Mishima H., Ohno S., T. Aiba, Nakano Y., Aizawa Y., Nakajima T., Hayashi K., Murakoshi N., Yagihara N., Kimoto H., Makiyama T., Watanabe H., Morita H., Yoshiura K., Nogami A., Shimizu W., Horie M., Tanaka T., Makita N.
    • Organizer
      The 65th Annual Meeting of the Japan Heart Rhythm Society
    • Data Source
      KAKENHI-PROJECT-15H04823

  • [Presentation] CFAP43遺伝子の機能喪失性変異は正常圧水頭症のリスク因子の可能性がある2018
    • Author(s)
      森本 芳郎、小野 慎治、吉田 真太朗、三嶋 博之、木下 晃、今村 明、黒滝 直弘、小澤 寛樹、木住野 達也、吉浦 孝一郎、山口 尚宏
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-17K10276

  • [Presentation] 日本人のなか耳垢型多型2018
    • Author(s)
      吉浦孝一郎
    • Organizer
      第72 回日本人類学会大会　公開シンポジウム２「DNAからみたヒトの進化」
    • Invited
    • Data Source
      KAKENHI-PLANNED-18H05506

  • [Presentation] Whole-exome sequencing in family trios reveal de novo mutations in a gene as a cause of paroxysmal kinesigenic dyskinesia2018
    • Author(s)
      Yoshida S, Morimoto Y, Ono S, Kinoshita A, Mishima H, Ozawa H, Yoshiura K, Kurotaki N, Imamura A
    • Organizer
      WFSBP Asia Pacific Regional Congress of Biological Psychiatry, Program & Abstract Book
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10276

  • [Presentation] Analysis of mice varying a novel mutation in a proteasome subunit gene identified in an autoinflammatory disease -Proteasome-associated autoinflammation and immunodeficiency disease (PRAID).2018
    • Author(s)
      Toshiya Ozasa, Hiroaki Hemmi, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
    • Organizer
      第47回日本免疫学会学術集会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 低depth全ゲノムシーケンシングによるコピー数バリエーション検出の性能評価．2018
    • Author(s)
      三嶋博之，吉浦孝一郎
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 顕著な睡眠障害，発達障害を有するCREBBP遺伝子のエクソン31の新規突然変異例．2018
    • Author(s)
      福井香織，渡邊順子，吉浦孝一郎．
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Analysis of mice varying a novel mutation in a proteasome subunit gene identified in an autoinflammatory disease -Proteasome-associated autoinflammation and immunodeficiency disease (PRAID)2018
    • Author(s)
      Toshiya Ozasa, Hiroaki Hemmi, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
    • Organizer
      第47回日本免疫学会学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 中條西村症候群からプロテアソーム関連自己炎症／免疫不全症候群へ2018
    • Author(s)
      金澤伸雄，中谷友美，原知之，稲葉豊，国本佳代，古川福実，神人正寿，金城紀子，水島恒裕，三嶋博之，木下晃，吉浦孝一郎，邊見弘明，改正恒康
    • Organizer
      第25回分子皮膚科学フォーラム
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 次世代シーケンサーを用いた近距離被ばく者世代間での新規突然変異検出2018
    • Author(s)
      蓬莱真喜子，三嶋博之，林田知佐，木下 晃，中根充文，松尾辰樹，鶴田一人，柳原克紀，佐藤信也，今西大介，今泉芳孝，波多智子，宮﨑泰司，吉浦孝一郎
    • Organizer
      日本放射線影響学会 第61回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Novel transcript of IPTR1 contributes to the development of anterior eye segment.2018
    • Author(s)
      Kinoshita A., Mishima H., Saitoh S., Yoshiura K.
    • Organizer
      The 2nd International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science,
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] CFAP43遺伝子の機能喪失性変異は正常圧水頭症のリスク因子の可能性がある2018
    • Author(s)
      森本芳郎，小野慎治，吉田真太朗，三嶋博之，木下 晃，今村 明，黒滝直弘，小澤寛樹，木住野達也，吉浦孝一郎，山口尚宏
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 低depth全ゲノムシーケンシングによるコピー数バリエーション検出の性能評価2018
    • Author(s)
      三嶋博之，吉浦孝一郎
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 次世代シーケンサーを用いた近距離被ばく者世代間での新規突然変異検出．2018
    • Author(s)
      蓬莱真喜子，三嶋博之，林田知佐，木下 晃，中根充文，松尾辰樹，鶴田一人，柳原克紀，佐藤信也，今西大介，今泉芳孝，波多智子，宮﨑泰司，吉浦孝一郎．
    • Organizer
      日本放射線影響学会 第61回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Evans症候群および低ガンマグロブリン血症を発症した歌舞伎症候群の一例．2018
    • Author(s)
      蒸野寿紀，南 弘一，鈴木啓之，森尾友宏，今井耕輔，三嶋博之，吉浦孝一郎，田村志宣，山下友佑，園木 孝志．
    • Organizer
      第1回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 妊娠を契機に深部静脈血栓症を発症し，原因遺伝子を特定出来たAT-3欠乏症の1例2018
    • Author(s)
      長谷川ゆり，東島 愛，大橋和明，三浦清徳，吉浦孝一郎，増﨑英明
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 新規LIG4遺伝子変異を導入したLIG4症候群モデルマウス2018
    • Author(s)
      山下友佑，田村志宣，福田有里，小笹俊哉，金澤伸雄，邊見弘明，吉浦孝一郎改正恒康，園木孝志
    • Organizer
      第80回日本血液学会学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] ロングリードシーケンサーのみによるヒトゲノム構造異常の評価．2018
    • Author(s)
      吉田真太朗，森本芳郎，小野慎治，三嶋博之，木下 晃，今村 明，黒滝直弘，小澤寛樹，木住野達也，吉浦孝一郎．
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] ロングリードシーケンサーのみによるヒトゲノム構造異常の評価2018
    • Author(s)
      吉田 真太朗、森本 芳郎、小野 慎治、三嶋 博之、木下 晃、今村 明、小澤 寛樹、吉浦 孝一郎
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-17K10276

  • [Presentation] Next-generation sequencing targeting disease-associated candidate genes unveils novel missense mutations for long QT syndrome in Japanese patients.2018
    • Author(s)
      Ryo Watanabe, Naomasa Makita, Koh-ichiro Yoshiura, Toshihiro Tanaka for Japanese LQTS Deep Sequencing Consortium.
    • Organizer
      第1回日本循環器学会基礎研究フォーラム
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Impaired development of dendritic cells in proteasome subunit mutant mice．2018
    • Author(s)
      Hiroaki Hemmi, Toshiya Ozasa, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
    • Organizer
      第47回日本免疫学会学術集会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] DNAからみた人の進化2018
    • Author(s)
      吉浦孝一郎
    • Organizer
      第72回日本人類学会大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] KAT6Bヘテロ接合性変異によるGenitopatellar症候群の2例．2018
    • Author(s)
      渡辺 聡，伊達木澄人，里 龍晴，木原敏晴，濱口 陽，吉浦孝一郎，森内浩幸．
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] ロングリードシーケンサーのみによるヒトゲノム構造異常の評価2018
    • Author(s)
      吉田真太朗，森本芳郎，小野慎治，三嶋博之，木下 晃，今村 明，黒滝直弘，小澤寛樹，木住野達也，吉浦孝一郎
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] KAT6Bヘテロ接合性変異によるGenitopatellar症候群の2例2018
    • Author(s)
      渡辺 聡，伊達木澄人，里 龍晴，木原敏晴，濱口 陽，吉浦孝一郎，森内浩幸
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Novel transcript of IPTR1 contributes to the development of anterior eye segment.2018
    • Author(s)
      Kinoshita A., Mishima H., Saitoh S., Yoshiura K.
    • Organizer
      The 2nd International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] DNAからみた人の進化 -日本人のなか耳垢型多型2018
    • Author(s)
      吉浦孝一郎
    • Organizer
      第72回日本人類学会大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 顕著な睡眠障害，発達障害を有するCREBBP遺伝子のエクソン31の新規突然変異例．2018
    • Author(s)
      福井香織，渡邊順子，吉浦孝一郎．
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Rare Coding Variants in Genes Other Than SCN5A Are Minimal Genetic Burden on the Prognosis of Brugada Syndrome2018
    • Author(s)
      Ishikawa T., Mishima H., Ohno S., T. Aiba, Nakano Y., Aizawa Y., Nakajima T., Hayashi K., Murakoshi N., Yagihara N., Kimoto H., Makiyama T., Watanabe H., Morita H., Yoshiura K., Nogami A., Shimizu W., Horie M., Tanaka T., Makita N.
    • Organizer
      The 65th Annual Meeting of the Japan Heart Rhythm Society
    • Data Source
      KAKENHI-PROJECT-18KK0245

  • [Presentation] 中條-西村症候群からプロテアソーム関連自己炎症／免疫不全症候群へ2018
    • Author(s)
      金澤伸雄，中谷友美，原知之，稲葉豊，国本佳代，古川福実，神人正寿，金城紀子，水島恒裕，三嶋博之，木下晃，吉浦孝一郎，邊見弘明，改正恒康．
    • Organizer
      第25回分子皮膚科学フォーラム
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 爆心地周辺被爆者の子孫における新規一塩基変化の検出．2018
    • Author(s)
      蓬莱真喜子，三嶋博之，林田知佐，木下 晃，中根允文，松尾辰樹，鶴田一人，栁原克紀，佐藤信也，今西大介，今泉芳孝，波多智子，宮﨑泰司，吉浦孝一郎
    • Organizer
      第３回 放射線災害・医科学研究拠点カンファランス
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Next-generation sequencing targeting disease-associated candidate genes unveils novel missense mutations for long QT syndrome in Japanese patients.2018
    • Author(s)
      Ryo Watanabe, Naomasa Makita, Koh-ichiro Yoshiura, Toshihiro Tanaka for Japanese LQTS Deep Sequencing Consortium.
    • Organizer
      第1回日本循環器学会基礎研究フォーラム
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] 爆心地周辺被爆者の子孫における新規一塩基変化の検出2018
    • Author(s)
      蓬莱真喜子，三嶋博之，林田知佐，木下 晃，中根允文，松尾辰樹，鶴田一人，栁原克紀，佐藤信也，今西大介，今泉芳孝，波多智子，宮﨑泰司，吉浦孝一郎
    • Organizer
      第３回 放射線災害・医科学研究拠点カンファランス
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] ROBO1遺伝子ホモ変異は，複合型下垂体機能低下症を伴う新たな症候群の原因か？2018
    • Author(s)
      伊達木澄人，渡辺 聡，吉浦孝一郎，森内浩幸．
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Genomic Analysis of Myelodysplastic Syndromes Among Nagasaki Atomic Bomb Survivors.2018
    • Author(s)
      Taguchi M, Mishima H, Shiozawa Y, Sato S, Horai M, Matsuo M, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Makishima H, Nannya Y, Moriuchi Y, Ogawa S, Yoshiura KI, Miyazaki Y
    • Organizer
      第60回アメリカ血液学会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H04209

  • [Presentation] Whole exome sequencing of case-unaffected parents trios reveal de novo genetic variants in gender dysphoria2018
    • Author(s)
      Morimoto Y, Ono S, Yoshida S, Kinoshita A, Mishima H, Yoshiura K, Imamura A, Ozawa H, Kurotaki N, Kinoshita H
    • Organizer
      WFSBP Asia Pacific Regional Congress of Biological Psychiatry, Program & Abstract Book
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10276

  • [Presentation] De novo mutations in the C-terminal region of ITPR1 cause aniridia, cerebellar ataxia and intellectual disability, Gillespie syndrome.2017
    • Author(s)
      Shinji Saitoh, Akira Kinoshita, Kana Hosoki, Hiroyuki Mishima, Kiyotaka Tomiwa, Naoko Ishihara, Yutaka Negishi, Naoko Asahina, Hideaki Shiraishi, Koh-ichiro Yoshiura.
    • Organizer
      日本人類遺伝学会 第62回大会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] 脂肪萎縮性糖尿病に先天性難聴を合併し、PIK3R1遺伝子に新生突然変異を認めSHORT症候群と診断した一例．2017
    • Author(s)
      大久保一宏，石井加奈子，大山紀子，トカン ヴラッド，戸田尚子，海老原 健，吉浦孝一郎，井原健二，大賀正一．
    • Organizer
      第51回日本小児内分泌学会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Optimal Conditions of FFPE Samples for Extraction and Molecular Analysis of DNA for Atomic Bomb Survivors.2017
    • Author(s)
      Ohnoda T, Matsuda K, Akazawa Y, Ueki N, Yamaguchi Y, Miura S, Kinoshita A, Yoshiura K, Nakashima M
    • Organizer
      The United States and Canadian Academy of Pathology (USCAP) 106th Annual Meeting.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K08379

  • [Presentation] De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome.2017
    • Author(s)
      Gordon C. T., Xue S., Yigit G., Filali H., Chen K., Rosin N., Yoshiura K., Oufadem M., Beck T., Dion C., Sefiani A., Kayserili H., Murphy J., Chatdokmaiprai C., Hillmer A., Wattanasirichaigoon D., Lyonnet S., Magdinier F., Javed A., Blewitt M., Amiel J., Wollnik B., Reversade B.
    • Organizer
      European Human Genetics Conference
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Identification of I287S homozygous mutation in the MLX gene in an infant with non-alcoholic steatohepatitis: A case report.2017
    • Author(s)
      Yoriko Watanabe, Satoshi Watanabe, Chisei Sato, Sachiko Ogasawara, Jun Akiba, Masayoshi Kage, Hirohisa Yano, Kaori Fukui, Tatsuki Mizuochi, Shoji Yano, Kiyoshi Hayasaka, Yushiro Yamashita, Takumi Kawaguchi, Takuji Torimura, Koh-ichiro Yoshiura.
    • Organizer
      American Society of Human Genetics Annual Meeting 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] Gene-based rare variants association test implicates PLA2G4E as a risk gene for panic disorder.2017
    • Author(s)
      Yoshiro Morimoto, Shintaro Yoshida, Akira Kinoshita, Hiroyuki Mishima, Naohiro Yamaguchi, Akira Imamura, Naohiro Kurotaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Shinji Ono.
    • Organizer
      日本人類遺伝学会 第62回大会
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] Identification of I287S homozygous mutation in the MLX gene in an infant with non-alcoholic steatohepatitis: A case report.2017
    • Author(s)
      Yoriko Watanabe, Satoshi Watanabe, Chisei Sato, Sachiko Ogasawara, Jun Akiba, Masayoshi Kage, Hirohisa Yano, Kaori Fukui, Tatsuki Mizuochi, Shoji Yano, Kiyoshi Hayasaka, Yushiro Yamashita, Takumi Kawaguchi, Takuji Torimura, Koh-ichiro Yoshiura.
    • Organizer
      American Society of Human Genetics Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16KT0112

  • [Presentation] De novo and Familial Connexin45 Mutant R75H Causes Progressive Atrioventricular Block Associated with Craniofacial and Dentodigital Dysmorphisms2017
    • Author(s)
      Makita N, Seki A, Ishikawa T, Dawmy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau A, Aurelie T, Swanny F, St?phanie B, Parent P, Shibata Y, Perrin JJ, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura K, Redon R, Schott J, J.
    • Organizer
      Printemps de la Cardiologie Recherche Fondamentale et Clinique
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04823

  • [Presentation] Sick sinus syndrome caused by HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular non-compaction2017
    • Author(s)
      Ishikawa T, Ohno S, Murakami T, Yoshida K, Fukuoka T, Mishima H, Kimoto H, Aiba T, Nogami A, Sumitomo N, Shimizu W, Horigome H, Yoshiura KI, Horie M, Makita N.
    • Organizer
      Heart Rhythm Society Scientific Sessions
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04823

  • [Presentation] A case of epileptic encephalopathy combined with various involuntary movement, sever psychomotor retardation with KCNA2 gene mutation.2017
    • Author(s)
      里龍晴，原口康平，森山薫，渡辺聡，神村直久，吉浦孝一郎，森内浩幸．
    • Organizer
      第59回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-16H05159

  • [Presentation] BCORナンセンス変異にもとづくOFCD症候群の一例．2017
    • Author(s)