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NARITOMI Kennji  成富 研二

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… Alternative Names

成冨 研二  ナリトミ ケンジ

成富 研二

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Researcher Number 20101446
Other IDs
Affiliation (based on the past Project Information) *help 2011 – 2013: 琉球大学, 医学(系)研究科(研究院), 教授
2011: 琉球大学, 大学院・医学研究科, 教授
2010 – 2011: 琉球大学, 医学研究科, 教授
2009: 国立大学法人琉球大学, 医学部, 教授
2000 – 2008: 琉球大学, 医学部, 教授
2004: 琉球大学, 大学院・医学研究科, 教授
1987 – 1988: 琉球大学, 医学部, 助教授
Review Section/Research Field
Principal Investigator
Human genetics / Pediatrics
Except Principal Investigator
Human genetics / Biological Sciences / Human genetics / Pediatrics / Pediatrics
Keywords
Principal Investigator
奇形症候群 / データベース / パソコンソフト / 染色体異常 / 遺伝性疾患 / Chromosomal aberrations / Malformation / Database / Software / Genetic diseases … More / パソコンソフトウェア / reference information / genetic information / neurological disease / chromosomal aberrations / malformation syndrome / genetic disease / diagnosis / software / 文献情報 / 遺伝子情報 / 神経疾患 / 診断 / ソフトウェア / 次世代シーケンサ / 高精度融解曲線分析法 / 遺伝子 / 診断用ソフトウェア / Aarskog-Scott症侯群 / Kabuki make-up症候群 / Opitz三角頭蓋症候群 / Aarskog-Scott症候群 / トランスクリプトーム解析 … More
Except Principal Investigator
DT40 / BAC / position effect / gene therapy / site specific recombination / chromosome X / human artificial chromosomes / 遺伝子治療 / ゲノム / 奇形症候群 / 遺伝子 / ヒト人工染色体 / Cre / loxP / ミニ染色体 / 発現制御 / homologous recombination / 相同組換え / 部位特異的組換え / X染色体 / familial cases of genetic diseases / disease genes / gene mapping / single-gene disorders / linkage analysis / ITGA3B遺伝子 / 遺伝性難聴 / WFS1遺伝子 / 疾病遺伝子 / 変異解析 / マイクロサテライトマーカー / 単一遺伝子疾患 / 疾患遺伝子座 / 緊張性四肢麻痺 / 無臭覚症 / 家族性側索硬化症 / ハプロタイプ解析 / 心房中隔欠損症 / 無嗅覚症 / 下顎前突症 / 多汗症 / 家族性心房中核欠損症 / 遺伝病家系 / 疾患遺伝子 / 遺伝子マッピング / 遺伝子病 / 連鎖解析 / Diabetes / high blood pressure / circulatory organ / A genome / Allergic asthma / DNAチップ / リュウマチ / 多因子疾患 / 喘息 / アレルギー / 高血圧 / 糖尿病 / 循環器・高血圧 / アレルギー喘息 / コンピュータ / 診断システム / ソフトウェア / パーソナルコンピュータ / 染色体異常 / マイクロアレイ / 次世代シーケンサー / 自閉症スペクトラム / 遺伝子診断 / PCR-高精度融解曲線分析法 / 分子遺伝学 / 機能的遺伝子クローニング / 相補性試験 / レポーター遺伝子 / loxPシステム Less
  • Research Projects

    (12 results)
  • Research Products

    (55 results)
  • Co-Researchers

    (28 People)
  •  Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosisPrincipal Investigator

    • Principal Investigator
      NARITOMI Kenji
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      University of the Ryukyus
  •  High-throughput screening system for genes associated with autism spectrum disorder

    • Principal Investigator
      YANAGI Kumiko
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      University of the Ryukyus
  •  Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.

    • Principal Investigator
      KANAME Tadashi
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      University of the Ryukyus
  •  奇形症候群の客観的診断法開発の試みPrincipal Investigator

    • Principal Investigator
      成富 研二
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      University of the Ryukyus
  •  Construction and application of human artificial chromosome vectors for stable gene expression by minichromosome-modifying system.

    • Principal Investigator
      KANAME Tadashi
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      University of the Ryukyus
  •  分子病態解析を行うための簡便なBAC改変システムの開発

    • Principal Investigator
      KANAME Tadashi
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      University of the Ryukyus
  •  Construction and application of human artificial chromosome vectors for gene introduction using minichromosomes.

    • Principal Investigator
      KANAME Tadashi
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      University of the Ryukyus
  •  Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.Principal Investigator

    • Principal Investigator
      NARITOMI Kenji
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      University of the Ryukyus
  •  CONSORTIUM-BACED LINKAGE ANALYSIS AND IDENTIFICATION OF GENES FOR SINGEL-GENE DISEASES

    • Principal Investigator
      NIIKAWA Norio
    • Project Period (FY)
      2001 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (S)
    • Research Field
      Human genetics
    • Research Institution
      NAGASAKI UNIVERSITY
  •  Genomic 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
  •  Development of a computer software for the diagnosis of congenital anomalies and genetic diseasesPrincipal Investigator

    • Principal Investigator
      NARITOMI Kenji
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      University of the Ryukyus
  •  パーソナルコンピュータを応用した奇形症候群

    • Principal Investigator
      平山 清武
    • Project Period (FY)
      1987 – 1988
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      University of the Ryukyus

All 2014 2013 2012 2011 2010 2009 2006 2005 2003 2002

All Journal Article Presentation Book

  • [Book] オピッツ症候群「症候群ハンドブック」2011

    • Author(s)
      成富研二
    • Total Pages
      674
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-21591329
  • [Book] 小児科診療 2009年増刊号「小児の症候群」 6p25欠失症候群2009

    • Author(s)
      成富 研二
    • Total Pages
      511
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19659267
  • [Book] 小児科診療 2009年増刊号「小児の症候群」 1q44欠失症候群2009

    • Author(s)
      成富 研二
    • Total Pages
      511
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19659267
  • [Book] 小児科診療 2009年増刊号「小児の症候群」 2q37欠失症候群2009

    • Author(s)
      成富 研二
    • Total Pages
      511
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19659267
  • [Journal Article] A commentary on the promise of whole-exome sequencing in medical genetics2014

    • Author(s)
      Kaname T, Yanagi K, Naritomi K.
    • Journal Title

      Journal of Human Genetics

      Volume: 59 Pages: 117-118

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Journal Article] In memoriam of Shozo Ohdo MD, PhD: one of the pioneers of clinical geneticist in Japan.2013

    • Author(s)
      K Naritomi
    • Journal Title

      Journal of Human Genetics

      Volume: 58 Issue: 3 Pages: 117-117

    • DOI

      10.1038/jhg.2012.150

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
    • Journal Title

      Am J Med Genet A

      Volume: 161 Issue: 6 Pages: 1221-1237

    • DOI

      10.1002/ajmg.a.35933

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.2013

    • Author(s)
      T Kaname
    • Journal Title

      Journal of Human Genetics

      Volume: 58 Issue: 2 Pages: 57-57

    • DOI

      10.1038/jhg.2012.138

    • NAID

      10031156423

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Journal Article] Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome2013

    • Author(s)
      Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M.
    • Journal Title

      BMC Medical Genetisc

      Volume: 14 Issue: 1 Pages: 56-56

    • DOI

      10.1186/1471-2350-14-56

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Journal Article] Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome2013

    • Author(s)
      Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitho S, Sugiura M.
    • Journal Title

      Journal of Obstetrics and Gynecology Research

      Volume: 39 Issue: 11 Pages: 1545-1547

    • DOI

      10.1111/jog.12081

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012

    • Author(s)
      Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.
    • Journal Title

      Autism Res Treat

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591329
  • [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features2012

    • Author(s)
      Yoneda Y, Naritomi K(15人中14番目), Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 207-211

    • NAID

      10030712151

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591329
  • [Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012

    • Author(s)
      K Yanagi、T Kaname、K Wakui、O Hashimoto、Y Fukushima、K Naritomi
    • Journal Title

      Autism Research and Treatment

      Volume: Vol.2012

    • URL

      http://www.hindawi.com/journals/aurt/

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Journal Article] Population genetic structure of peninsular Malaysia Malay sub-ethnic groups2012

    • Author(s)
      Hatin WI, Nur-Shafawati AR, Zahri MK, Xu S, Jin L, Tan SG, Rizman-Idid M, Zilfalil BA; HUGO Pan-Asian SNP Consortium
    • Journal Title

      PLoS One

      Volume: 5:6(4) Issue: 4 Pages: e18312-e18312

    • DOI

      10.1371/journal.pone.0018312

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19101008, KAKENHI-PROJECT-23390191, KAKENHI-PROJECT-23591506
  • [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features2012

    • Author(s)
      Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57巻 Issue: 3 Pages: 207-211

    • DOI

      10.1038/jhg.2012.7

    • NAID

      10030712151

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24659535, KAKENHI-PROJECT-22591263, KAKENHI-PLANNED-24116007, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005
  • [Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder.2012

    • Author(s)
      K Yanagi
    • Journal Title

      Autism Research and Treatment

      Volume: 2012 Pages: 1-5

    • DOI

      10.1155/2012/724072

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Journal Article] Paleolithic Contingent in Modern Japanese : Estimation and Inference using Genome-wide Data2012

    • Author(s)
      He Y
    • Journal Title

      Sci Rep

      Volume: 2 Issue: 1 Pages: 355-355

    • DOI

      10.1038/srep00355

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-23591506
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

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

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
  • [Journal Article] 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 Populations.2012

    • 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. Saitou N
    • Journal Title

      Journal of Human Genetics

      Volume: 57巻 Issue: 12 Pages: 787-79

    • DOI

      10.1038/jhg.2012.114

    • NAID

      10031145887

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22370087, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-22687023, KAKENHI-PROJECT-23247040, KAKENHI-PROJECT-23510242, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23657167, KAKENHI-PROJECT-24370099, KAKENHI-PROJECT-24405017, KAKENHI-PROJECT-24790728
  • [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011

    • Author(s)
      Hannibal, et al
    • Journal Title

      Am J Med Genet A

      Volume: 115A(7) Issue: 7 Pages: 1511-1516

    • DOI

      10.1002/ajmg.a.34074

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390100, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052
  • [Journal Article] NDS1欠失の認められたSotos症候群16例の臨床的検討2010

    • Author(s)
      當山真弓、當山潤、遠藤尚宏、竹谷徳雄、高良幸伸、要匡、成富研二
    • Journal Title

      日本小児科学会雑誌

      Volume: 114 Pages: 48-52

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591329
  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009

    • Author(s)
      Kuniba H, Kaname T, Naritomi K(19人中11, 12番目), Niikawa N
    • Journal Title

      J Hum Genet

      Volume: 54 Pages: 304-309

    • NAID

      10030730501

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591329
  • [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] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005

    • Author(s)
      Miyake N, Visser R, Kinoshita A, Yoshiura K, Harada N, Okamoto N, Sonoda T, Kaname T, Chinen Y, Naritomi K, Tonoki H, Kondoh T, Kurosawa K, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 135A

      Pages: 103-105

    • NAID

      120006981060

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

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

      J Med Genet 40(4)

      Pages: 285-289

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

    • Author(s)
      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] 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
  • [Presentation] 疾患を対象とした可変追加型遺伝子診断パネルの作製と実践(Craniosynostosis, collagenopathy 220)2013

    • Author(s)
      要匡、柳久美子、比嘉真紀、知念安紹、當間隆也、泉川良範、新川詔夫、吉浦孝一郎、成富研二
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      江陽グランドホテル,仙台
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Detection of variations and their frequencies of the CCR5 gene and its promoter region in Japanese and Okinawan population by NGS analysis using pooled DNAs Authors2013

    • Author(s)
      T. Kaname, K. Yanagi, M. Higa, S. Song, Naritomi K
    • Organizer
      The American Society of Human Genetics, 63rd Annual Meeting
    • Place of Presentation
      Boston, MT, USA
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Identificatbn of two novel mutations in the NOG gene in potients with Symphalangism syndrome. Authors2013

    • Author(s)
      A. Ganaha, T. Kaname, K. Yanagi, K. Naritomi, M. Suzuki
    • Organizer
      EUROPEAN Human Genetics CONFERENCE 2013
    • Place of Presentation
      Paris, France
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] FGD1遺伝子変異を認めるAarskog-Scott症候群の特徴2013

    • Author(s)
      要匡、岡本伸彦、黒澤健司、泉川良範、福嶋義光、水野誠司、成富研二
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島国際会議場,広島市文化交流会館;広島
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Detection and estimation of variations and their frequencies in a targeted genomic region in a specific population by NGS analysis using pooled DNAs2013

    • Author(s)
      T. Kaname, K. Yanagi, M. Higa, A. Ganaha, K. Teruya, K. Sato, T. Hirano, Naritomi K.
    • Organizer
      第36回日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド,神戸
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Expression and cellular localization of the Trk-fused gene (TFG)2012

    • Author(s)
      K. Yanagi, T. Kaname, Y. Sakiyama, H. Takashima, K. Naritomi
    • Organizer
      第35回日本分子生物学会年会
    • Place of Presentation
      福岡国際会議場,福岡
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Distinct pathogenic substitution of IVS15+5G>A in the SLC26A4 gene in patients with enlarged vestibular aqueduct and Pendred syndrome in Okinawa islands2012

    • Author(s)
      A. Ganaha, T. Kaname, K. Yanagi, K. Naritomi, S. Usami, M. Suzuki
    • Organizer
      EUROPEAN Human Genetics CONFERENCE 2012
    • Place of Presentation
      Nürnberg, Germany
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異解析2012

    • Author(s)
      要匡、柳久美子、岡本伸彦、黒澤健司、泉川良範、福嶋義光、蒔田芳男、近藤郁子、塚原正人、Ayca Altincik、水野誠司、伊藤靖典、成富研二
    • Organizer
      第19回日本遺伝子診療学会
    • Place of Presentation
      三井ガーデンホテル千葉;千葉
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Bohring-Opitz症候群およびOpitz C症候群における遺伝子変異2012

    • Author(s)
      要匡、柳久美子、福嶋義光、蒔田芳男、水野誠司、吉浦孝一郎、新川詔夫、成富研二
    • Organizer
      第52回日本先天異常学会学術集会
    • Place of Presentation
      東京女子医科大学弥生記念講堂;東京
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Novel mutations of the FGD1 gene in 16 patients with Aarskog-Scott syndrome2012

    • Author(s)
      T. Kaname, K. Yanagi, N. Okamoto, K. Kurosawa, Y. Izumikawa, Y. Fukushima, Y. Makita, M. Tsukahara, A. Altincik, S. Mizuno, K. Naritomi
    • Organizer
      The American Society of Human Genetics, 62nd Annual Meeting
    • Place of Presentation
      San Francisco, CA, USA
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] G-band染色により核型46,XY,der(3)der(7), inv ins(3;7) (q21;q32q21.1)とされた裂手裂足患児の転座切断点解析2012

    • Author(s)
      柳久美子、要匡、小口良子、當間隆也、泉川良範、吉浦孝一郎、新川詔夫、成富研二
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      京王プラザホテル,東京
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] 次世代シーケンサによるレンツ小眼球症候群の変異同定と診断システムの確立2012

    • Author(s)
      要匡、當間隆也、村松友佳子、板垣裕輔、水野誠司、黒澤健司、成富研二
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡国際会議場;福岡
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] 免疫グロブリンスーパーファミリーCD96の細胞外マトリックスタンパク質との反応性の検討2011

    • Author(s)
      要匡、柳久美子、森田この美、池松真也、成富研二
    • Organizer
      第84回日本生化学会大会
    • Place of Presentation
      京都国際会館;京都
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Screening of mutations in the FGD1 gene in Japanese patients with Aarskog-Scott syndrome2011

    • Author(s)
      K. Yanagi, T. Kaname, K. Naritomi
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜,横浜
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011

    • Author(s)
      T. Kaname, K. Yanagi, Y. Muramatsu, T. Tohma, H. Hanafusa, K. Morita, S. Ikematsu, Y. Itagaki, K. Kurosawa, S. Mizuno, K. Yoshiura, K. Naritomi
    • Organizer
      The American Society of Human Genetics, 60th Annual Meeting Montreal
    • Place of Presentation
      Quebec, Canada
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異2011

    • Author(s)
      柳久美子、要匡、岡本伸彦、塚原正人、黒澤健司、泉川良範、福嶋義光、蒔田芳男、近藤郁子、Ayca Altincik、水野誠司、伊藤靖典、成富研二
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ,千葉
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Opitz C様症候群(Bohring-Opitz症候群)におけるASXL1遺伝子変異2011

    • Author(s)
      要匡、柳久美子、福嶋義光、水野誠司、吉浦孝一郎、新川詔夫、成富研二
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ,千葉
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Lenz小眼球症候群を呈する一家系の原因遺伝子解析2011

    • Author(s)
      要匡、柳久美子、當間隆也、村松友佳子、森田この美、池松真也、板垣裕輔、水野誠司、吉浦孝一郎、成富研二
    • Organizer
      第18回出生前診断研究会
    • Place of Presentation
      佐賀大医学部臨床大講堂;佐賀
    • Year and Date
      2011-10-01
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Opitz三角頭蓋症候群原因遺伝子CD96のPCR—HRM法による変異スキャニングシステム2011

    • Author(s)
      要匡、森田この美、柳久美子、花房宏昭、吉浦孝一郎、池松真也、成富研二
    • Organizer
      第51回日本先天異常学会学術集会
    • Place of Presentation
      シェーンバッハ・サボー;東京
    • Data Source
      KAKENHI-PROJECT-23591506
  • [Presentation] Opitz三角頭蓋症候群診断のためのCD96遺伝子スキャニングシステムの構築2010

    • Author(s)
      成富研二
    • Organizer
      日本人類遺伝学会 第55回大会
    • Place of Presentation
      埼玉:大宮ソニックシティ
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Presentation] Opitz三角頭蓋症候群診断のためのCD96遺伝子スキャニングシステムの構築2010

    • Author(s)
      成富研二
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮ソニックシティ(埼玉)
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene, FGD12009

    • Author(s)
      Kaname T, Yanagi K, Chinen Y, Naritomi K
    • Organizer
      European Human Genetics Conference 2009
    • Place of Presentation
      Vienna, Austria
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Presentation] ヒト疾患と遺伝子:臨床診断と責任遺伝子診断2009

    • Author(s)
      成富研二, 要匡
    • Organizer
      第49回 日本先天異常学会学術集会
    • Place of Presentation
      鹿児島市民文化ホール, 鹿児島
    • Year and Date
      2009-06-25
    • Data Source
      KAKENHI-PROJECT-21591329
  • [Presentation] 自閉症スペクトラム感受性遺伝子、NLGN3およびNLGN4のハイスループット解析法の確立2009

    • Author(s)
      柳久美子, 要匡, 福嶋義光, 成富研二
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京(品川)
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Presentation] High-throughput variation scanning system of responsible genes for X-1 inked autistic disorder spectrum, NLGN3 and NLGN4, by a PCR coupled high-resolution melting curve analysis2009

    • Author(s)
      Tanaka K, Kaname T, Maehara H, Fukushima Y, Naritomi K, Yanagi K
    • Organizer
      59^<th> the American Society of Human Genetics, Annual meeting
    • Place of Presentation
      Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Presentation] PCR-高解像度融解曲線分析法による遺伝子スキャニングシステムの構築2009

    • Author(s)
      要匡, 柳久美子, 福嶋義光, 吉浦孝一郎, 新川詔夫, 成富研二
    • Organizer
      第16回日本遣伝子診療学会
    • Place of Presentation
      札幌
    • Data Source
      KAKENHI-PROJECT-21590362
  • [Presentation] ヒト疾患と遺伝子:臨床診断と責任遺伝子診断(invited)2009

    • Author(s)
      成富研二、要匡
    • Organizer
      第49回日本先天異常学会学術集会
    • Place of Presentation
      鹿児島
    • Year and Date
      2009-06-25
    • Data Source
      KAKENHI-PROJECT-21591329
  • 1.  KANAME Tadashi (40264288)
    # of Collaborated Projects: 7 results
    # of Collaborated Products: 33 results
  • 2.  YANAGI Kumiko (90294701)
    # of Collaborated Projects: 7 results
    # of Collaborated Products: 27 results
  • 3.  NIIKAWA Norio (00111170)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 6 results
  • 4.  FUKUSHIMA Yoshimitsu (70273084)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 5.  SUGANO Sumio (60162848)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 6.  HATA Akira (00244541)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 7.  MIKI Tetsuro (00174003)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 8.  TOKUNAGA Katsushi (40163977)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 9.  MAEDA Tadakazu (90265728)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  YOSHIURA Koh-ichiro (00304931)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 11.  KISHINO Tatsuya (70315232)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 12.  TSUKAMOTO Kazuhiro (30253305)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 13.  MATSUMOTO Tadashi (70190535)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 14.  平山 清武 (90041392)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 15.  具志堅 俊樹 (80178160)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  屋良 朝雄 (70166841)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  三輪 史朗 (40034954)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  林 健志 (00019671)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  濱口 秀夫 (00091918)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  五條堀 孝 (50162136)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  笹月 健彦 (50014121)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  矢崎 義雄 (20101090)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  辻田 高宏 (40304919)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  OOTA Hiroki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  木住野 達也
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 26.  山形 崇倫
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 27.  土井 宏
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  石田 肇
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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