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NIIKAWA Norio  新川 詔夫

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Researcher Number 00111170
Other IDs
Affiliation (Current) 2019: 北海道医療大学, 健康科学研究所, 教授
Affiliation (based on the past Project Information) *help 2012: 北海道医療大学, 北海道医療大学, 学長
2010 – 2012: 北海道医療大学, 学長
2007 – 2010: Health Sciences University of Hokkaido, 個体差健康科学研究所, 教授
2004 – 2006: Nagasaki University, Graduate School of Biomedical Sciences Department of Human Genetics, Professor, 大学院医歯薬学総合研究科, 教授
2003 – 2005: 長崎大学, 大学院・医歯薬学総合研究科, 教授 … More
1988 – 2002: 長崎大学, 医学部, 教授
1996: 長崎大, 医学部, 教授
1986: Nagasaki University School of Medicine, Professor, 医学部, 教授 Less
Review Section/Research Field
Principal Investigator
Human genetics / Biological Sciences / Human genetics / 医学一般
Except Principal Investigator
Psychiatric science / Human genetics / Pediatrics / Human genetics / 内分泌・代謝学 / Plastic surgery / Surgical dentistry / Hematology / Biological Sciences
Keywords
Principal Investigator
ポジショナルクローニング / 連鎖解析 / 関連解析 / 遺伝子 / 染色体異常 / 一過性骨髄異常増殖症 / 発生機構 / RFLP / 染色体ミクロ切断 / 外骨腫遺伝子 … More / 遺伝子クロ-ニング / in situ hybridization / PFGE / 転座切断点 / 遺伝子マッピング / 染色体転座 / 疾患遺伝子 / 多因子疾患 / 染色体 / 遺伝子単離 / 分子遺伝学 / DNA / 疾患遺伝子座 / 心房中隔欠損症 / ゲノム刷り込み / MEST / COPG2IT1 / CPA3 / 7q32領域 / インプリンティング / 7q32 region / ハプロタイプ解析 / ダイソミー性ホモ接合性 / がん関連遺伝子 / 変異遺伝子の量的効果 / 染色体異型 / 21番染色体の過剰 / がん抑制遺伝子 / DNAライブラリ- / 欠失分析 / 8g23ー24特異的クロ-ン / 多発性外骨腫症遺伝子 / YACクローン / FISH / 外骨腫症 / 原因遺伝子 / 逆行遺伝学 / マッピング / BMP-1遺伝子 / ワールデンブルク症候群 / 原因遺伝子単離 / isoform / alternative splicing / 組織特異的発現 / マウスPax3 / ヒトHuP2 / 多発性外骨腫 / 3′RACE法 / 遺伝子発現 / RT-PCR / 軟骨細胞 / 外骨腫 / 腫瘍抑制遺伝子 / 単因子疾患 / 疾患感受性遺伝子 / 因子疾患 / 多指趾症 / 合指症 / 歌舞伎症候群 / 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 / ABCC11遺伝子 / 耳垢型 / 遺伝子多型 / 乳がん / 初乳量 / 腋窩臭症 / ABCC11アレルの全国地図 / 遺伝学 / ヒトゲノム / ヒト正常形質 / 遺伝形質 / 多型 / 顕微切断 / クロ-ニング / ライブラリ- / 染色体彩色法 / 遺伝子地図 / ゲノム / 未知遺伝子 / 染色体バンド特異的DNAクロ-ン / PCR / Chromosome / Microdissection / DNA Loning / Library / Chromosome Painting / Gene Mapping / Human Genome / 一過性白血病 / ダウン症候群 / 切断点解析 / 染色体逆位 / コスミドコンティング / 腫瘍関連遺伝子 / 位置的単離 / YAC / コンティグ / 切断点クローン / STS / Transient leukemia / Down syndrome / Breakpoint analysis / Positional cloning / Gene isolation / Chromosome inversion / Cosmid contig / Tumor-related gene / 中間肢短縮小人症 / Engelmann病 / 発作性運動誘発性コレオアテトーシス / 家族性白内症 / 肢中部短縮型小人症 / LINKAGE ANALYSIS / DISEASE LOCUS / MESOMELIC DYSPLASIA / ENGELMANN DISEASE / Paroxysmal kinetogenic choreoathetosis / FAMILIAL CATARACT / ATRIAL SPEPTAL DEFECT / POSITIONAL CLONING / Silver-Russell症候群 / PACコンティグ / 刷り込みドメイン / COPS2ITI / BAC / PACコンディグ / MEST遺伝子 / GRB10遺伝子 / 新規遺伝子 / PAC / BACコンティグ / 発現地図 / γ2-COP遺伝子 / 子宮内発育不全 / Genomic imprinting / Silver-Russel syndrome / PAC contig / Imprinting domain / 骨粗鬆症 / 骨密度決定因子 / LRP5遺伝子 / SNP / ハプロタイプ / 発症危険因子 / 骨粗鬆症発症危険因子 / LRP5遺伝子SNP / 刷り込み関連遺伝子 / マウスAtp10a遺伝子 / 刷り込み遺伝子 / TGFB遺伝子 / TGFB1遺伝子 / 1塩基多型(SNP) / 骨軟化症 / TGFB1 / 連関解析 / モデルマウス / 自閉症 / ゲノムインプリンティング / TGF-β1蛋白 / TGFBR1 / osteoporosis / bone-mineral-density determinant / LRP5 gene / haplotype analysis / association study / single nucleotide polymorphism (SNP) / genomic imprinting / 遺伝子病 / 遺伝病家系 / 家族性心房中核欠損症 / 多汗症 / 下顎前突症 / 無嗅覚症 / 家族性側索硬化症 / 無臭覚症 / 緊張性四肢麻痺 / 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 / WFS1遺伝子 / 遺伝性難聴 / ITGA3B遺伝子 / linkage analysis / single-gene disorders / gene mapping / disease genes / familial cases of genetic diseases / 染色体異常の起源 / 微細染色体欠失 / 遺伝子欠失 / プラダー・ウィリー症候群 / 乳児型グリセロールキナーゼ欠損症 / Chromosome abnormality / Origin of chromosome abnormality / Micro-deletion of chromosome / Gene deletion / Prader-Willi syndrome / 親起原 / 制限酵素断片長多型 / 染色体不分離 / 遺伝子量効果 / 親起源 / サザンハイブリダイゼーション / chromosome abnormality / mechanism of formation / parental origin / restriction fragment length polymorphism / nondisjunction / gene dose effect / molecular genetics … More
Except Principal Investigator
ゲノム刷り込み / 精神分裂病 / Genetic disease / mitochondrial myopathy / H19 / メチレーション / 一卵性双生児不一致例 / 双極性障害 / パニック障害 / 染色体転座 / 自閉症 / 遺伝子 / gene / B10 / 一卵性双生児 / IGCR / RLGS / 染色体異常 / メチル化 / Hmx-1 / Rescue / CGH / 逆行遺伝学 / Microdissection / microcloning / ウィルソン病 / positionalcloning / fluoresent in situ hybridization / nonketotic hyperglycinemia / RFLP marker / Prader‐Willi syndrome / colon cancer / マイクロディセクション / マイクロクロ-ニング / グリセロ-ルキナ-ゼ / Positional Cloning / Machado-Joseph Disease / Fragile X Syndrome / Amyloid Polyneuropathy / Propionidc acidemia / mitochondrial / Colon Calncer myopathy / Positional cloning / in situ hybridization / nonretotic / P^0cells / aronatase doficienuy / breast cancer / 胞状奇胎 / 良性卵巣奇形腫 / ヒト正常胎盤 / ノ-ザンブロットハイブリダイゼ-ション / EMG症候群 / ゲノム刷り込み現象 / IGF2 / 過成長症候群 / WT1遺伝子 / 刷り込み多型 / インプロンティング / paternal-specific imprint / HLA抗原型 / 慢性関節リュウマチ / インシュリン依存性糖尿病 / DR4 / 6番染色体短腕 / 罹病抵抗性遺伝子マーカー / 6番染色体短椀 / 多因子遺伝精神疾患 / genomic scanning / 罹患同胞対法 / 連鎖研究 / マイクロサテライトマーカー / ポジショナルクローニング / 疾患遺伝子 / 新規遺伝子 / 遺伝子発現 / 鏡像四肢多指趾症 / 14q13 / 分子遺伝学 / 7q32 / MEST / PEG1 / TSGA14 / 自閉性 / Silver-Russell症侯群 / 先天異常 / 口唇裂 / 口蓋裂 / 遺伝子解析 / バンキング / 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 / 歌舞伎症候群 / 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 / デュシャンヌ筋ジストロフィー症 / 女性筋ジストロフィー症患者 / 遺伝形質 / X連鎖性遺伝 / 遺伝子欠失 / ジストロフィン / ウエスタンブロッティング / 双生児 / 出生順位 / 指紋 / 脳室 / 海馬 / 遺伝子変異 / Differential cloning / 磁気共鳴画像(MRl) / 遺伝要因 / 環境要因 / 胎正期 / 周産期障害 / 脳 / MRI / 異種性 / 診断一致率 / 脳室拡大 / schizophrenia / twin / magnetic resonance imaging (MRI) / gentic factors / environmental factors / fetal period / perinatal complications / gene mutation / t(8;21) / t(15;17) / t(9;22) / C分染法 / Ag-I染色法 / 白血病 / - / genomic imprinting / t (8 ; 21) / t (15 ; 17) / t (9 ; 22) / C-banding method / Ag-I-staining method / 感情障害 / 表現促進 / セロトニン輸送体 / 反復配列 / 遺伝子多型 / セロトニン輸送体遺伝子 / Affective disorder / Anticipation / Serotonin transporter / Repetitive element / 21番染色体 / 22番染色体 / 11番染色体 / 全塩基配列 / 遺伝性聾DFNB8 / 遺伝性脊髄小脳変性症 / 子宮体癌 / 染色体カラーバンディング法 / ドラフトシーケンス / 遺伝性聾DFNB8・B10 / Sotos症候群 / 11q23 / ヒト21番染色体 / 進行性骨異形症 / TGFβ1遺伝子 / Bardet-Biedl症候群 / がん抑制遺伝子 / SKY法 / ヒト11q22-23領域 / S番染色体特異的BACクローン / シークエンス解析 / HLAクラス1遺伝子群 / PLACE-SSCP / SKY法の改良 / Transcriptional sequencing / 11q13領域 / シークエンス地図 / MHCクラスI領域 / 自己免疫疾患APECED / 福山型先天性ジストロフィー / 変異検出法 / 高速大規模プラスミド調整機 / 11番染色体物理地図 / ダウン症必須領域 / 免疫グロブリン遺伝子 / HLA遺伝子群 / SCA2遺伝子 / 福山型筋ジストロフィー / 改良型SSCP法 / Chromosome 21 / Chromosome 22 / Chromosome 11 / Whole Sequence / Hereditary defness DFNB8 / Early onset ataxia / Endometrial Cancer / SCAN method / 不一致例 / 精神神経疾患 / ゲノムスキャンニング / RLGS修正新版 / differential display / Notlサイト / ゲノムの差異 / epigenetic discordance / てんかん / ゲノムスキャン / 転写活性 / MONOZYGOTIC TWIN / DISCORDANCE / SCHIZOPHRENIA / NEUROPSYCHIATRIC DISORDERS / GENOME SCANNING / MODIFICATION OF RLGS / 骨系統疾患 / 連鎖解析 / Mesomelic dysplasia / mesomedic dysplasia / クローニング / 責任遺伝子 / タイ / bone disease / linkage analysis / mesomelic dysplasia / Thailand / 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 / アレルギー喘息 / ゲノム / 循環器・高血圧 / 糖尿病 / 高血圧 / アレルギー / 喘息 / 多因子疾患 / リュウマチ / DNAチップ / Allergic asthma / A genome / circulatory organ / high blood pressure / Diabetes / エピジェネティックス / RLGS法 / FRGP法 / DNAメチル化 / AUTISM / MONOZYGOTIC TWINS / METHYLATION / EPIGENETICS / RLGS (Restriction Landmark Genome Scanning) / FRGP (Fluorescent Representational Genomic Profiling) / 自然流産 / 精神発達遅滞 / マイクロアレー / comparative genomic hybridization / 流産 / 染色体微細異常 / ゲノム病 / spontaneous abortion / mental retardation / microarray Less
  • Research Projects

    (44 results)
  • Research Products

    (265 results)
  • Co-Researchers

    (115 People)
  •  Molecular genetic study of normal morphological variantsPrincipal Investigator

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

    • 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
  •  Genetic, medical and anthropological study of human earwax gene, ABCC11Principal Investigator

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

    • 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
  •  Submicroscopic chromosomal structural aberrations in human developmental disorders

    • Principal Investigator
      MATSUMOTO Naomichi
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Yokohama City University
  •  CONSORTIUM-BACED LINKAGE ANALYSIS AND IDENTIFICATION OF GENES FOR SINGEL-GENE DISEASESPrincipal Investigator

    • 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
  •  自閉症の原因遺伝子の単離

    • Principal Investigator
      KISHINO Tatsuya
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Nagasaki University
  •  Genomic analysis on genetic factors of human diseases and elucidation of their molecular mechanisms

    • Principal Investigator
      SUGANO Sumio
    • Project Period (FY)
      2000 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
  •  Genome study on osteoporosis and on imprinted genesPrincipal Investigator

    • Principal Investigator
      NIKAWA Norio
    • Project Period (FY)
      2000 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Nagasaki Universty
  •  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
  •  鏡像四肢多指趾症の遺伝子単離

    • Principal Investigator
      山野辺 裕二
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Plastic surgery
    • Research Institution
      Nagasaki University
  •  Identification of genes involved in genomic imprinting and intrauterine growthPrincipal Investigator

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      1999 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Department of Human Genetics, Nagasaki University School of Medicine
  •  Functional analysis of hmx-1 gene in the developing embryo

    • 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
  •  多因子遺伝精神疾患の発症を免れるゲノム内機構と精神分裂病関連遺伝子の解明

    • Principal Investigator
      岡崎 祐士
    • Project Period (FY)
      1998 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Psychiatric science
    • Research Institution
      Mie University
  •  Study on gene responsible for mesomelic dysplasia identified in Thailand

    • Principal Investigator
      MATSUO Masafumi
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (A).
    • Research Field
      Human genetics
    • Research Institution
      Kobe University
  •  精神分裂病への罹病抵抗性要因の遺伝子マーカーの発見的研究

    • Principal Investigator
      TSUJITA Takahiro, OKAZAKI Yuji
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University
  •  一過性白血病原因遺伝子の単離と解析Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Nagasaki University
  •  Human Genome Analysis

    • Principal Investigator
      OHKI Misao
    • Project Period (FY)
      1996 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (A)
    • Research Institution
      National Cancer Center Research Institute
  •  LINKAGE ANALYSIS OF UNKNOWN GENETIC DISEASESPrincipal Investigator

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      1996 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Human genetics
    • Research Institution
      NAGASAKI UNIVERSITY
  •  GENOME DIFFERENCE ANALYSIS BETWEEN MONOZYGOTIC TWINS DISCORDANT FOR NEUROPSYCHIATRIC DISORDERS

    • Principal Investigator
      OKAZAKI Yuji
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Psychiatric science
    • Research Institution
      NAGASAKI UNIVERSITY
  •  多発性外骨腫(ガン抑制)遺伝子のポジショナルクローニングと発がん機構Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Nagasaki University
  •  ヒトにおけるH19ゲノム刷り込み機構の解明

    • Principal Investigator
      陣野 吉廣
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University
  •  Investigation of the gene mutation of the receptors associated with serotonin in affective disorder.

    • Principal Investigator
      HAYASHIDA Masaki
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University
  •  多発性外骨腫(がん抑制遺伝子のポジショナルクローニングと発がん機構Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Nagasaki University
  •  EMG症候群発症におけるゲノム刷り込み現象の意義に関する研究

    • Principal Investigator
      松本 正
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagasaki University
  •  ヒトにおけるゲノム刷り込み機構の解明

    • Principal Investigator
      陣野 吉廣
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University
  •  Cytognetic and Molecular Genetic Study of Transient Abnormal MyelopoiesisPrincipal Investigator

    • Principal Investigator
      NIKAWA Norio
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University
  •  ANALYSES OF GENOMIC IMPRINTING IN CHROMOSOME TRANSLOCATIONS OF HEMATOLOGIC NEOPLASIA

    • Principal Investigator
      TOMONAGA Masao
    • Project Period (FY)
      1994 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hematology
    • Research Institution
      NAGASAKI UNIVERSITY
  •  ヒト染色体ディセクションによる外骨腫(がん抑制)遺伝子単離と腫瘍抑制機構Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Nagasaki University
  •  病因遺伝子の単離と解析

    • Principal Investigator
      香川 靖雄
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Jichi Medical University
  •  逆行遺伝学的手法によるWaardenburg症候群原因遺伝子の単離Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1992 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Institution
      Nagasaki University
  •  ヒトにおけるゲノム刷り込み機構の解明

    • Principal Investigator
      陣野 吉広
    • Project Period (FY)
      1992
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University
  •  A comprehensive twin study on genetic and nongenetic traits related to the etiologies of schizophrenia.

    • Principal Investigator
      NAKANE Yoshibumi, 岡崎 祐士
    • Project Period (FY)
      1992 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Psychiatric science
    • Research Institution
      Nagasaki University
  •  ヒト染色体デイセクションによる外骨腫(がん抑制)遺伝子 単離と腫瘍抑制機構Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1991
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Nagasaki University
  •  単一遺伝子病の分子・細胞生物学的研究

    • Principal Investigator
      香川 靖雄
    • Project Period (FY)
      1991
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Jichi Medical University
  •  染色体マイクロディセクション法を用いたグリセロ-ルキナ-ゼ遺伝子の単離

    • Principal Investigator
      MATSUMOTO Tadashi
    • Project Period (FY)
      1991
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagasaki University
  •  ヒト染色体ディセクションによる外骨腫(がん抑制)遺伝子単離と腫瘍抑制機構Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1990
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Nagasaki University
  •  逆行遺伝学手法を用いたウィルソン病遺伝子の単離

    • Principal Investigator
      陣野 吉廣
    • Project Period (FY)
      1990
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      内分泌・代謝学
    • Research Institution
      Nagasaki University
  •  Construction of DNA Libraries Specific for Chromosomal Regions or Bands by Chromosome Microdissection, and Its Application to Medical GeneticsPrincipal Investigator

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      1990 – 1991
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University School of Medicine
  •  一過性骨髄異常増殖症(TAM)の発生機構Principal Investigator

    • Principal Investigator
      新川 詔夫
    • Project Period (FY)
      1989
    • Research Category
      Grant-in-Aid for Cancer Research
    • Research Institution
      Nagasaki University
  •  女性Duchenns筋ジストロフィー症の分子遺伝学的研究

    • Principal Investigator
      松本 正
    • Project Period (FY)
      1988
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagasaki University
  •  Parental Origin of de novo chromosome abnormalities.Principal Investigator

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      1988 – 1989
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Nagasaki University
  •  A Study on the Etiology of Congenital Anomaly Syndromes of Unknown Cause: Cytogenetic Study with High-Resolution Banding and Origin of Abnormal Chromosomes.Principal Investigator

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      1985 – 1986
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      医学一般
    • Research Institution
      Nagasaki University

All 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 Other

All Journal Article Presentation Book

  • [Book] Encyclopedia of Life Sciences2009

    • Author(s)
      Miyake N, Matsumoto N, Niikawa N
    • Publisher
      Wiley & Sons
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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
  • [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] Sotos syndrome.(Encyclopedia of Life Sciences)2008

    • Author(s)
      Niikawa N, Miyake N, Matsumoto N
    • Publisher
      Wiley & Sons
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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] Clinical correlations of mutations affecting six components of the SW1/SNF complex: detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y,Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yono S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Mstsumoto N
    • Journal Title

      Am J Med Genet

      Volume: 161A: 1221-1237

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [Journal Article] Clinical correlations of mutations affecting six components of the SW1/SNF complex: detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Niikawa N, et al
    • Journal Title

      Am J Med Genet

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] KDM6A point mutations cause Kabuki syndrome2012

    • Author(s)
      Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
    • Journal Title

      Human Mut

      Volume: 34 (1): 108-110

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [Journal Article] Paleolithic Contingent in Modern Japanese: Estimation and Inference using Genome-wide Data2012

    • Author(s)
      He YG, Wang WR, Xu SH, Jin L, Huang W, Wang Y, Yuan WT, Wang HF, Zhao GP, Chu J, Xiao H, Han J, Mukerji M, Sinha A, Scaria V, Chaurasia A, Jha P, Ahmed I, Brahmachari SK, Majumder PP, Mandapati KK, Khurana P, Sudoyo H, Sandraling Y, Suryadi H, Marzuki S, Niikawa N, Gojobori T, Suzuki Y, Koike T, Sakaki Y, Oka A, Inoko H, Naritomi K, Tokunaga K, Nishida N, Ohashi J, Kimura R, Sugano S, Jongsun Jung, Bermseok Oh, Jongyoung Lee, Kim, Hyung-Lae Kim, Ho Ghang, Woo-Yeon Kim KJ, Lee S, Yang JO, Oh S, Yoo HS, Bhak J, Kim S, Phipps ME, Jinam TA, Edo J, Abdulla MA, Zilfalil B-A, Peng HB, Sidek MR, De Ungria CAM, Calacal GC, Delfin FC, Perdigon HB, Salvador JM, Tabbada KA, Cutiongco-de la Paz MLP, Padilla CD, Kumar V, Chen J, Mitchell W, Ong R, Png E, Tan A, Liu ET, Lai PS, Chien-Hsiun Chen, Yuan-Tsong Chen, Wu JY, Ho SF,Kangwanpong D, Srikummool M, Kampuansai J, Palittapongarnpim P, Tongsima S, Ngamphiw C, Kulawonganunchai S, Fucharoen S, Assawamakin A, Kennedy GC, Yao EWY
    • Journal Title

      Scientific Reports

      Volume: 2(355): 1-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] 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] (Japanese Archipelago Human Population Genetics Consortium):The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations2012

    • Author(s)
      Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K, Tokunaga K, Saitou N
    • Journal Title

      J Hum Genet

      Volume: 57: 1-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [Journal Article] Paleolithic Contingent in Modern Japanese2012

    • Author(s)
      He Y
    • Journal Title

      Estimation and Inference using Genome-wide Data. Sci Rep

      Volume: 2 Pages: 107-107

    • DOI
      10.1038/srep00355
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-23591506
  • [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] 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, Niikawa N, et al
    • Journal Title

      Proc Natl Acad Sci (PNAS)

      Volume: 108 Pages: 14914-14919

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] 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] 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] Down-regulation of ABCC11 protein (MEP8) in human breast cancer2011

    • Author(s)
      Sosonkina N, Nakashima M, Ohta T Niikawa N, Starenki D
    • Journal Title

      Exp Oncol

      Volume: 33 Pages: 42-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] 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] 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

    • Data Source
      KAKENHI-PROJECT-21390100
  • [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] Down-regulation of ABCC11 protein (MRP8) in human breast cancer2011

    • Author(s)
      Sosonkina N, Nakashima M, Ohta T, Niikawa N, Starenki D
    • Journal Title

      Exp Oncol

      Volume: 33: 42-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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

    • 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, NiikawaN, Nickerson DA, BamshadMJ, Shendure J
    • Journal Title

      Nature Genet

      Volume: 42: 790-793

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] 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

    • Data Source
      KAKENHI-PROJECT-21390100
  • [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] 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] 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] 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390066
  • [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] 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] 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] 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

    • 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] 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 gene2009

    • Author(s)
      Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N
    • Journal Title

      BMC Genet 10

      Pages: 42-44

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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 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-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] 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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] 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] 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] 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] 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 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] 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

    • 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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 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 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] 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] 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

    • 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

    • 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

    • 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] 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

    • 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

    • 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] 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] 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] 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] 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 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] Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum2007

    • Author(s)
      Hu H, Wu LQ, Feng Y, Pan Q, Long Z, Li J, Dai HP, Xia K, Liang DS, Niikawa N, Xia JH
    • Journal Title

      J Hum Genet 52(6)

      Pages: 492-497

    • 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum.2007

    • Author(s)
      Hu H, Niikawa N, Xia JH, et al
    • Journal Title

      J Hum Genet 52

      Pages: 492-497

    • Peer Reviewed
    • 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] 耳垢のタイプ2006

    • Author(s)
      新川詔夫
    • Journal Title

      Medical Technology 10

      Pages: 1013-1014

    • Data Source
      KAKENHI-PROJECT-19390095
  • [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] 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] 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

    • 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] 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] 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] 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] 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] 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] Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes2006

    • Author(s)
      Shimokawa, O., Harada, N., Miyake, N., Satoh, K., Mizuguchi, T., Niikawa, N., Matsumoto, N
    • Journal Title

      American Journal of Medical Genetics 140A (18)

      Pages: 1931-1936

    • 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] 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

    • 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 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] 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] 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] 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] Lack of association between the TGF-β1 gene polymorphisms and recurrent spontaneous abortion2006

    • 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(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] 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] 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] 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] Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.2006

    • Author(s)
      Visser R, Hasegawa T, Niikawa N, Matsumoto N
    • Journal Title

      J Hum Genet 51(1)

      Pages: 15-20

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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] Origin and mechanisms of formation of fetus-in-fetu : Two cases with genotype and methylation analyses2006

    • Author(s)
      Miura, S., Miura, K., Yamamoto, T., Yamanaka, M., Saito, K., Hirabuki.T., Kurosawa, K., Yamasak, i Y., Matsumoto, N., Hirahara, F., Yohiura, K., Masuzaki.H., Niikawa N
    • Journal Title

      American Journal o Medical Genetics 140 A (16)

      Pages: 1737-1743

    • Data Source
      KAKENHI-PROJECT-17019055
  • [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] 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] 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] Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions.2006

    • Author(s)
      Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N
    • Journal Title

      J Med Genet 42(11)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Expression of the Snurf-Snrpn IC transcript in the oocyte and putative role in the imprinting establishment of the mouse 7C imprinting domain2006

    • Author(s)
      Mapendano CK, Kishino T, Miyazaki K, Kondo S, Yoshiura K, Hishikawa Y, Koji T, Niikawa N
    • Journal Title

      J Hum Genet (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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] 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] 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] Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses.2006

    • Author(s)
      Miura, S., Niikawa N, et al
    • Journal Title

      Am J Med Genet 140A(16)

      Pages: 1737-1743

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Journal Article] Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.2006

    • Author(s)
      Sato H, Niikawa N, et al.
    • Journal Title

      J Hum 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 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] 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] Non-hotspot-related breakpoints of common deletions in Soto syndrome are located within destabilized DNA regions.2006

    • Author(s)
      Visser R, Niikawa N, et al.
    • Journal Title

      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] 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 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] 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] Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?2005

    • Author(s)
      Miura K, Niikawa N
    • Journal Title

      J Hum Genet 50

      Pages: 1-6

    • 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, 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

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.2005

    • Author(s)
      Jin Z-B, Liu X-Q, Uchida A, Vervoot R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-I N
    • Journal Title

      Mol Vis 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patient with Angelman syndrome2005

    • Author(s)
      Sai toh S, Wada T, Oka j ima M, Takano K, Sudo ?A, Niikawa N
    • Journal Title

      Brain Develop 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome2005

    • Author(s)
      Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N
    • Journal Title

      Brain Develop 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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

    • 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] Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese2005

    • Author(s)
      Machida H, Tsukamoto K, Niikawa N, et al.
    • Journal Title

      World J Gastroenterol 11

      Pages: 4188-4193

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion2005

    • Author(s)
      Visser R, Ohta T, Niikawa N, Matsumoto N et al.
    • Journal Title

      American Journal of Human Genetics 76

      Pages: 52-67

    • Data Source
      KAKENHI-PROJECT-17019055
  • [Journal Article] Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese.2005

    • Author(s)
      Machida H, Tsukamoto K, Wen C-Y, Narumi Y, Shikuwa S, Isomoto H, Takeshima F, Mizuta Y, Niikawa N, Murata I, Kohno S.
    • Journal Title

      World J Gastroenterol 11 (27)

      Pages: 4188-4193

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB.2005

    • Author(s)
      Matsumoto T, Miyake N, Watanabe Y, Yamanaka G, Oana S, Ogiwara M, Hoshika A, Miyahara H, Niikawa N
    • Journal Title

      Am J Med Genet 138A

      Pages: 300-302

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?2005

    • Author(s)
      Miura K, Niikawa N
    • Journal Title

      J Hum Genet 50(1)

      Pages: 1-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Journal Article] Identification of a 3. 0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1. 9-Mb microdeletion.2005

    • Author(s)
      Visser R, Kinoshita A, Ohta T, Niikawa N, et al
    • Journal Title

      Am J Hum Genet 76(1)

      Pages: 52-67

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.2005

    • Author(s)
      Jon Z-B, Niikawa N, Nao-I N, et al.
    • Journal Title

      Mol Vis 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?2005

    • Author(s)
      Miura K, Niikawa N
    • Journal Title

      J Hum Genet 50(1)

      Pages: 1-6

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Eosinophil infiltration and amyloidsis in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family2005

    • Author(s)
      Nomura M, Hamasaki Y, Ktayama I, Niikawa N, Yosiura K
    • Journal Title

      Journal of Human Genetics 50

      Pages: 483-489

    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air2005

    • Author(s)
      Yamasaki Y, Kayashima T, Niikawa N, Kishino T, et al.
    • Journal Title

      Hum Mol Genet 14

      Pages: 2511-2530

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene,2005

    • Author(s)
      Matsumoto T, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 138A

      Pages: 300-302

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.2005

    • Author(s)
      Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N
    • Journal Title

      Brain Develop 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Eosinophil infiltration and amyloidsis in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family2005

    • Author(s)
      Nomura M, Hamasaki Y, Ktayama I, Niikawa N, Yosiura K
    • Journal Title

      J Hum Genet 50(9)

      Pages: 483-489

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.2005

    • Author(s)
      Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N
    • Journal Title

      Brain Develop 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions.2005

    • Author(s)
      Visser R, Niikawa N, et al
    • Journal Title

      J Med Genet 42(11)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019055
  • [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] Sotes syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats2005

    • Author(s)
      Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupsli JR
    • Journal Title

      Human Molecular Genetics 14

      Pages: 535-542

    • 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

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.2005

    • Author(s)
      Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura KI, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T.
    • Journal Title

      Hum Mol Genet 14

      Pages: 2511-2530

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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

    • 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] Eosinophil infiltration and amyloidsis in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family2005

    • Author(s)
      Nomura M, Hamasaki Y, Ktayama I, Niikawa N, Yosiura K
    • Journal Title

      J Hum Genet 50

      Pages: 483-489

    • Description
      「研究成果報告書概要(和文)」より
    • 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, 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] ゲノム医学における倫理的課題2004

    • Author(s)
      新川詔夫, 他
    • Journal Title

      科学(岩波書店) 74(5)

      Pages: 1-12

    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q322004

    • Author(s)
      Yamada T, Niikawa N, Kishino T, et al.
    • Journal Title

      Genomics 83

      Pages: 402-412

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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-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] 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] 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] Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.2004

    • Author(s)
      Yamada T, Mitsuya K, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Yamada H, Minakami H, Oshimura M, Niikawa N, Washino T
    • Journal Title

      Genomics 83 (3)

      Pages: 402-412

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] A rapid diagnostic method for a retrotransposal insertiona mutation into the FCMD gene in Japanese patients with Fukuyam● congenital muscular dystrophy.2004

    • Author(s)
      Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 127A

      Pages: 54-57

    • 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, 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] A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.2004

    • Author(s)
      Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 127A

      Pages: 54-57

    • 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] 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] Eight novel microsatellite markers in the 3'region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy.2004

    • Author(s)
      Matsumoto T, Niikawa N
    • Journal Title

      Prenat Diagn 24(12)

      Pages: 1014-1015

    • Description
      「研究成果報告書概要(欧文)」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] LRP5, low density lipoprotein receptor-related protein 5, is a determinant for bone mineral density (BMD).2004

    • Author(s)
      Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 49

      Pages: 80-86

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] LRP5, low density lipoprotein receptor-related protein 5, is a determinant for bone mineral density (BMD)2004

    • Author(s)
      Mizuguchi T, Kishino T, Matsumoto N, Minakami H, Niikawa N, et al.
    • Journal Title

      J Hum Genet 49

      Pages: 80-86

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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

      AmJ Med Genet 127A

      Pages: 104-107

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Eight novel microsatellite markers in the 3' region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy.2004

    • Author(s)
      Matsumoto T, Niikawa N
    • Journal Title

      Prenat Diagn 24

      Pages: 1014-1015

    • 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, 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-12204010
  • [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] On the conflicting reports of imprinting status of mouse ATP10a in the adult brain Strain-background-dependent imprinting?2003

    • Author(s)
      Kayashima T, Ohta T, Niikawa N, kishino T
    • Journal Title

      J Hum Genet 48(9)

      Pages: 492-493

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Sotos syndrome and haploinsufficiency of NSD1 : Clinical features of intragenic mutations and submicroscopic deletions.2003

    • Author(s)
      Nagai T, Niikawa N, Naritomi K, et al.
    • Journal Title

      J Med Genet 40

      Pages: 285-289

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] On the conflicting reports of imprinting status of mouse ATP10a in the adult brain : Strain-background-dependent imprinting?2003

    • Author(s)
      Kayashima T, Ohta T, Niikawa N, Kishino T
    • Journal Title

      J Hum Genet 48

      Pages: 492-493

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a.2003

    • Author(s)
      Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Ogawa M, Wagstaff J, Kishino T
    • Journal Title

      Hum Mol Genet 12

      Pages: 837-847

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] 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] Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.2003

    • Author(s)
      Higashimoto K, Urano T, Sugiura K, Yatsuki H, Joh K, Wei Z, Iwakawa M, Ohashi H, Oshimura M, Niikawa N, Mukai T, Scejima. H
    • Journal Title

      AmJ Hum Genet 73 (4)

      Pages: 948-956

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Sotos syndrome and haploinsufficiency of NSD1 : Clinical features of intragenic mutations and submicroscopic deletions.2003

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

      J Med Genet 40(4)

      Pages: 285-289

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain.2003

    • Author(s)
      Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Niikawa N, Kishino T
    • Journal Title

      Hum Genet 112

      Pages: 220-226

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome2003

    • Author(s)
      Higashimoto K, Urano T, Niikawa N, Mukai T, Soejima H, et al.
    • Journal Title

      Am J Hum Genet 73

      Pages: 948-956

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain2003

    • Author(s)
      Kayashima T, Yamasaki K, Niikawa N, Kishino T, et al.
    • Journal Title

      Hum Genet 112

      Pages: 220-226

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] Atp10a, the mouse ortholog of the human imprinted ATP10C gene, escapes genomic imprinting2003

    • Author(s)
      Kayashima T, Yamasaki K, Niikawa N, Kishino T, et al.
    • Journal Title

      Genomics 81

      Pages: 644-647

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] Atp1Oa, the mouse ortholog of the human imprinted ATP10C gene, escapes genomic imprinting.2003

    • Author(s)
      Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T
    • Journal Title

      Genomics 81

      Pages: 644-647

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a2003

    • Author(s)
      Yamasaki K, Niikawa N, Ogawa M, Wagstaff J, Kishino T, et al.
    • Journal Title

      Hum Mol Genet 12

      Pages: 837-847

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, an absence of TBX5 mutations : report of a Thai family.2002

    • Author(s)
      Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa I'
    • Journal Title

      Am J Med Genet 111

      Pages: 301-306

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Camurati-Engelmann disease Type II : Progressive diaphyseal dysplasia with striations of the bones.2002

    • Author(s)
      Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N
    • Journal Title

      Am J Med Genet 107

      Pages: 5-11

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] The novel gene, TSGA14, adjacent to the imprinted gene MEST escapes genomic imprinting.2002

    • Author(s)
      Yamada T, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Fujimoto S, Niikawa N, Kishino T
    • Journal Title

      Gene 288 (1-2)

      Pages: 57-63

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] The human ASCL2 gene escaping genomic imprinting and its expression pattern.2002

    • Author(s)
      Miyamoto T, Hasuike S, Jinno Y, Soejima H, Yun K, Miura K, Ishikawa M, Niikawa N
    • Journal Title

      J Assist Reprod Genet 19

      Pages: 240-244

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] A catalog of 106 single nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway.2002

    • Author(s)
      Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 47

      Pages: 478-483

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [Journal Article] A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations : report of a Thai family.2002

    • Author(s)
      Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa N
    • Journal Title

      Am J Med Genet 111(3)

      Pages: 301-306

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch : a new distal symphalangism syndrome2002

    • Author(s)
      IKantaputra PN, Kinoshita A, Amwonges C, Praditsup 0, Niikawa N
    • Journal Title

      Am J Med Genet 109

      Pages: 56-60

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] The human ASCL2 gene escaping genomic imprinting and its expression pattern2002

    • Author(s)
      Miyamoto T, Ishikawa M, Niikawa N, et al.
    • Journal Title

      J Assist Reprod Genet 19

      Pages: 240-244

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.2002

    • Author(s)
      Tomita H-A, Nakatomi K, Niikawa N, et al.
    • Journal Title

      Lancet 359

      Pages: 2000-2002

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch : a new distal symphalangism syndrome?2002

    • Author(s)
      Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N
    • Journal Title

      Am J Med Genet 109(1)

      Pages: 56-60

    • 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 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

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Camurati-Engelmann disease Type II : Progressive diaphyseal dysplasia with striations of the bones.2002

    • Author(s)
      Nishimura G, NIikawa N, et al.
    • Journal Title

      Am J Med Genet 107

      Pages: 5-11

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.2002

    • Author(s)
      Tomita H-A, Yamada K, Ghadami M, Ogura T, Yanai Y, Nakatomi K, Sadamatsu M, Masui A, Nanko S, Kato N, Niikawa N
    • Journal Title

      Lancet 359(9322)

      Pages: 2000-2002

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] A catalog of 106 single nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway2002

    • Author(s)
      Watanabe Y, Niikawa N, Yoshiura K, et al.
    • Journal Title

      J Hum Genet 47

      Pages: 478-483

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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] 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] 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] Two Thai families with Norrie disease (ND) : Association of two novel missense mutations with severe ND phenotype, epileptic seizures, and manifesting female carrier.2001

    • Author(s)
      Yamada K, Niikawa N, Kishino T, et al.
    • Journal Title

      Am J Med Genet 100

      Pages: 52-55

    • Description
      「研究成果報告書概要(和文)」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] Two Thai families with Norrie disease (ND) : Association of two novel missense mutations with severe ND phenotype, epileptic seizures, and manifesting female carrier.2001

    • Author(s)
      Yamada K, Limprasert P, Ratanasukon M, Tengtrisorn S, Yingchareonpukdee J, Vasiknanonte P, Kitaoka T, Ghadami M, Niikawa N, Kishino T
    • Journal Title

      Am J Med Genet 100

      Pages: 52-55

    • 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, 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] Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.2001

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

      Am J Med Genet 104

      Pages: 250-256

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Molecular characterization of NSD1, a human homologue of the mouse Nsdl gene.2001

    • Author(s)
      Kurotaki N, Harada N, YoshiurK, Sugano S, NiikawaN, Matsumoto N
    • Journal Title

      Gene 279

      Pages: 197-204

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

    • Author(s)
      Miyoshi O, Niikawa N, et al.
    • Journal Title

      Am J Med genet 104

      Pages: 250-256

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.2001

    • Author(s)
      Yokoyama A, Niikawa N, Naoi N, et al.
    • Journal Title

      Am J Med genet 104

      Pages: 232-238

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Journal Article] Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.2001

    • Author(s)
      Yokoyama A, Maruiwa F, Hayakawa M, Kannai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naoi N
    • Journal Title

      Am J Med Genet 104

      Pages: 232-238

    • Description
      「研究成果報告書概要(欧文)」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] Expression of the Snurf-Snrpn IC transcript in the oocyte and putative role in the imprinting establishment of the mouse 7C imprinting domain.

    • Author(s)
      Mapendano CK, Kishino T, Miyazaki K, Kondo S, Yoshiura K, Hishikawa Y, Koji T, Niikawa N, Ohta T
    • Journal Title

      J Hum Genet (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12204010
  • [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
  • [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] Lack of association between the TGF-β1 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-12204010
  • [Journal Article] Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

    • Author(s)
      Sato H, Miyamoto T, Yogev L, Namiki M, Koh E, Hayashi H, Sasaki Y, Ishikawa M, Lamb DJ, Matsumoto N, Niikawa N, Sengoku K
    • Journal Title

      J Hum Genet (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-13854024
  • [Presentation] Biomedical characterization of a genetic polymorphism of human ABCC11 as a determinant of earwax type2008

    • Author(s)
      豊田優, 櫻井亜季, 中島正洋, 中川 大, 吉浦孝一郎, 新川詔夫, 石川智久
    • Organizer
      第31回日本分子生物会年会・第81回日本生化学学大学 合同大学
    • Place of Presentation
      神戸ボートアイフンド
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 古人骨における耳垢遺伝解析の試み(続報)2008

    • Author(s)
      佐伯和信, 吉浦孝一郎, 新川詔夫, 岡本啓圭史, 分部哲秋
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      パシフィコ横浜
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] A strong association of axillary osmidrosis with genotype of the ABCC11 gene defining the earwax type.2008

    • Author(s)
      Tsuda M, Mivva N, Nakano M, Nakashima M, Yoshiura K, Ohta T, Niikawa N
    • Organizer
      The 2008 EAUHGS Symposium & the 8^<th> EAUHGS Annual Meeting
    • Place of Presentation
      Sapporo
    • Year and Date
      2008-07-19
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 全国スーパーサイエンスハイスクール(SSH)の共同による耳垢型対立遺伝子の全国地図作成の研究2008

    • Author(s)
      本多隆利, 村松紋佳, 田中清, 長嶋哲也, 小川隆, 吉浦孝一郎, 新川詔夫
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 全国スーパーサイエンスハイスクール(SSH)の共同による耳垢型対立遺伝子の全国地図作製の研究2007

    • Author(s)
      山田 賢輔、北島 玲那、田中 清、長嶋 哲也、古賀 巌、吉浦 孝一郎、新川 詔夫
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Year and Date
      2007-09-15
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 全国スーパーサイエンスハイスクール(SSH)の共同による耳垢型対立遺伝子の全国地図作製の研究2007

    • Author(s)
      山田賢輔、北島玲那、田中清、長嶋哲也、古賀巌、吉浦孝一郎、新川詔夫
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Year and Date
      2007-09-15
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] C症候群の原因解析2007

    • Author(s)
      柳 久美子、要 匡、知念 安紹、蒔田 芳男、岡本 伸彦、前原 博樹、久保田 義顕、尾池 雄一、山本 俊至、黒澤 健司、福嶋 義光、Axel Bohring、John Opitz M、吉浦 孝一郎、新川 詔夫、成富 研二
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] 歌舞伎メーキャップ症候群の染色体転座・微細欠失内の候補遺伝子解析2007

    • Author(s)
      国場英雄、霜川修、Liag Desheng、Xia Jiahui、木下晃、吉浦孝一郎、原田直樹、近藤達郎、大橋博文、黒澤健司、福島義光、成富研二、新川詔夫
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] Breakpoints analysis of a balanced de novo translocation t (3;18) (q13.13;q12.1) in a patient with Opitz C trigonocephaly synt (3;18) (q13.13;q12.1) in a patient with Opitz C trigonodrome2007

    • Author(s)
      Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Koichiro Yoshiura, Norio Niikawa, Kenii Naritomi
    • Organizer
      European Human Genetics Conference 2007
    • Place of Presentation
      Nice, France
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] 古人骨における耳垢遺伝子解析の試み2007

    • Author(s)
      佐伯和信、吉浦孝一郎、新川詔夫、岡本圭史、分部哲秋
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] C症候群を呈し、均衡型転座t(3;18) (q13.13;q12.1)をもつ患児の染色体切断点解析2007

    • Author(s)
      要 匡、柳久美子、知念安紹、前原博樹、吉浦孝一郎、新川詔夫、成富研二
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] 爪から抽出したgenomic DNAを用いた多型解析:血液サンプルとの比較2007

    • Author(s)
      中島光子、新川詔夫、吉浦孝一郎
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Year and Date
      2007-09-12
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] 耳垢型決定因子としてのABCトランスポーター遺伝子(ABCC11)2007

    • Author(s)
      新川詔夫、吉浦孝一郎
    • Organizer
      第30回日本分子生物学会年会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜市みなとみらい国際会議場
    • Year and Date
      2007-12-11
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] 古人骨における耳垢遺伝子解析の試み2007

    • Author(s)
      佐伯 和信、吉浦 孝一郎、新川 詔夫、岡本 圭史、分部 哲秋
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Year and Date
      2007-09-15
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 耳垢型決定因子としてのABCトランスポーター遺伝子(ABCC11)2007

    • Author(s)
      新川 詔夫、吉浦 孝一郎
    • Organizer
      第30回日本分子生物学会年会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜市みなとみらい国際会議場
    • Year and Date
      2007-12-11
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 合指症IV型の遺伝子座マッピング2007

    • Author(s)
      佐藤大介、Liang Desheng、Wu Ling qian、Pan Qian、Xia Kun、Dai Heping、Wang Hua、西村玄、吉浦孝一郎、Xia Jiahui、新川 詔夫
    • Organizer
      第52回日本人類遺伝学会
    • Place of Presentation
      東京京王プラザホテル
    • Data Source
      KAKENHI-PROJECT-17019055
  • [Presentation] 耳垢型決定遺伝子の同定2005

    • Author(s)
      吉浦孝一郎、木下晃、齋藤成也、徳永勝士、石川智久、中村祐輔、新川詔夫
    • Organizer
      第28回日本分子生物学会年会
    • Place of Presentation
      福岡市
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 世界民族集団における乾型アリルの頻度とモンゴロイドの移住・拡散

    • Author(s)
      吉浦孝一郎、木下晃、斉藤成也、徳永勝士、中村祐輔、新川詔夫
    • Organizer
      第50回人類遺伝学会(山崎庸子)
    • Place of Presentation
      倉敷
    • Data Source
      KAKENHI-PROJECT-19390095
  • [Presentation] 耳垢型決定遺伝子の同定

    • Author(s)
      新川詔夫、駒木亮一、園田俊郎、平山謙二、石田貴文、斉藤成也、吉浦孝一郎
    • Organizer
      第50回人類遺伝学会
    • Place of Presentation
      倉敷
    • Data Source
      KAKENHI-PROJECT-19390095
  • 1.  JINNO Yoshihiro (20179097)
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  • 115.  富田 博秋
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