NARITOMI Kennji 成富研二

… 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 Pediatrics / Human genetics Except Principal Investigator Human genetics / Biological Sciences / Pediatrics / Pediatrics / Human genetics
Keywords	Principal Investigator 奇形症候群 / 遺伝性疾患 / 染色体異常 / パソコンソフト / データベース / トランスクリプトーム解析 / Aarskog-Scott症候群 / Opitz三角頭蓋症候群 / Kabuki make-up症候群 / Aarskog-Scott症侯群 … More / 診断用ソフトウェア / 遺伝子 / 高精度融解曲線分析法 / 次世代シーケンサ / ソフトウェア / 診断 / 神経疾患 / 遺伝子情報 / 文献情報 / software / diagnosis / genetic disease / malformation syndrome / chromosomal aberrations / neurological disease / genetic information / reference information / パソコンソフトウェア / Genetic diseases / Software / Database / Malformation / Chromosomal aberrations … More Except Principal Investigator BAC / DT40 / Cre / ヒト人工染色体 / 遺伝子 / 奇形症候群 / ゲノム / 遺伝子治療 / human artificial chromosomes / chromosome X / site specific recombination / gene therapy / position effect / loxPシステム / レポーター遺伝子 / 相補性試験 / 機能的遺伝子クローニング / 分子遺伝学 / PCR-高精度融解曲線分析法 / 遺伝子診断 / 自閉症スペクトラム / 次世代シーケンサー / マイクロアレイ / 染色体異常 / パーソナルコンピュータ / ソフトウェア / 診断システム / コンピュータ / アレルギー喘息 / 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 / 連鎖解析 / 遺伝子病 / 遺伝子マッピング / 疾患遺伝子 / 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 / 心房中隔欠損症 / ハプロタイプ解析 / 家族性側索硬化症 / 無臭覚症 / 緊張性四肢麻痺 / 疾患遺伝子座 / 単一遺伝子疾患 / マイクロサテライトマーカー / 変異解析 / 疾病遺伝子 / 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 / X染色体 / 部位特異的組換え / 相同組換え / homologous recombination / 発現制御 / ミニ染色体 / loxP Less

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 Japan2013
- Author(s)
  K Naritomi
- Journal Title
  
  J Hum Genet
  
  Volume: 58 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 literature.2013
- Author(s)
  Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161 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 disorders2013
- Author(s)
  T Kaname
- Journal Title
  
  J Hum Genet
  
  Volume: 58 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 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 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)
- 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 features.2012
- 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 Pages: 207-11
- 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 disorder2012
- Author(s)
  K Yanagi
- Journal Title
  
  Autism Res Treat
  
  Volume: 2012
- 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
  
  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] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.2012
- 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 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-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 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. Saitou N
- Journal Title
  
  J. Hum. Genet.
  
  Volume: 57巻 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] Bamshad MJ, 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) 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: 38 results
2. YANAGI Kumiko (90294701)

# of Collaborated Projects: 7 results

# of Collaborated Products: 29 results
3. NIIKAWA Norio (00111170)

# of Collaborated Projects: 2 results

# of Collaborated Products: 7 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. OHTA Tohru

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
25. OKAMOTO Nobuhiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
26. MIZUNO Seiji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. HIRAKI Yoko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. KUROTAKI Naohiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. MANO Syuhei

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. KIMURA Ryousuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. NISHIDA Nao

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 木住野達也

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
33. 山形崇倫

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
34. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 鶴崎美徳

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 土井宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
38. 富田博秋

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
39. 加藤光広

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
40. 太田博樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. 石田肇

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

NARITOMI Kennji 成富 研二

成冨 研二 ナリトミ ケンジ

成富 研二

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

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奇形症候群の客観的診断法開発の試みPrincipal Investigator

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Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.Principal Investigator

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Development of a computer software for the diagnosis of congenital anomalies and genetic diseasesPrincipal Investigator

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[Book] オピッツ症候群「症候群ハンドブック」2011

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[Book] 小児科診療 2009年増刊号「小児の症候群」 6p25欠失症候群2009

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NARITOMI Kennji 成富研二

成冨研二ナリトミケンジ

成富研二