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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 diagnosis

Research Project

Project/Area Number 23591506
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionUniversity of the Ryukyus

Principal Investigator

NARITOMI Kenji  琉球大学, 医学(系)研究科(研究院), 教授 (20101446)

Co-Investigator(Renkei-kenkyūsha) KANAME Tadashi  琉球大学, 大学院医学研究科, 准教授 (40264288)
YANAGI Kumiko  琉球大学, 大学院医学研究科, 助教 (90294701)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords診断用ソフトウェア / 奇形症候群 / 遺伝子 / 高精度融解曲線分析法 / 次世代シーケンサ
Research Abstract

Database for genetic diseases and supporting program for the diagnosis (UR-DBMS, Syndrome Finder) were developed and renewed year-on-year. The database including responsible genes for the diseases was published to the web site (http://becomerich.lab.u-ryuyu.ac.jp/).
In addition to the published database, we constructed mutation-screening plates for the genes, FGD1, MLL2, CD96, ASXL1, or genes for autism spectrum disorders to substantialize the system for personal molecular diagnosis in combination with the supporting program.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (66 results)

All 2014 2013 2012 2011 Other

All Journal Article (18 results) (of which Peer Reviewed: 18 results) Presentation (43 results) Remarks (5 results)

  • [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

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [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)
      T Kosho
    • Journal Title

      American Journal of Medical Genetics A

      Volume: in press

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Paleolithic Contingent in Modern Japanese: Estimation and Inference using Genome-wide Data.2012

    • Author(s)
      Y He
    • Journal Title

      Scientific Report

      Volume: 2 Pages: 355-355

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Paleolithic Contingent in Modern Japanese: Estimation and Inference using Genome-wide Data2012

    • Author(s)
      Y He
    • Journal Title

      Sci Rep

      Volume: 2

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Identification of close relatives in the HUGO Pan-Asian SNP database2011

    • Author(s)
      X Yang
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Population genetic structure of peninsular Malaysia Malay sub-ethnic groups2011

    • Author(s)
      WI Hatin
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [Presentation] FGD1遺伝子変異を認めるAarskog-Scott症候群の特徴2013

    • Author(s)
      要 匡
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島
    • Related Report
      2013 Annual Research Report
  • [Presentation] A novel ARSE mutation in a patient with chondrodysplasia punctata 1 and in his mother with low frequent somatic and/or germline mosaicism detected by deep sequencing using NGS2013

    • Author(s)
      Kaname T
    • Organizer
      EUROPEAN Human Genetics CONFERENCE 2013
    • Place of Presentation
      Paris, France
    • Related Report
      2013 Annual Research Report
  • [Presentation] Identificatbn of two novel mutations in the NOG gene in potients with Symphalangism syndrome2013

    • Author(s)
      Ganaha A
    • Organizer
      EUROPEAN Human Genetics CONFERENCE 2013
    • Place of Presentation
      Paris, France
    • Related Report
      2013 Annual Research Report
  • [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 DNAs2013

    • Author(s)
      Kaname T
    • Organizer
      The American Society of Human Genetics, 63rd Annual Meeting
    • Place of Presentation
      Boston, MT, USA
    • Related Report
      2013 Annual Research Report
  • [Presentation] ベンチトップ型次世代シーケンサを用いた遺伝子領域解析 ―Aaarskog-Scott症候群原因関連遺伝子解析―2013

    • Author(s)
      柳久美子
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台,宮城
    • Related Report
      2013 Annual Research Report
  • [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)
      Kaname T
    • Organizer
      第36回日本分子生物学会年会
    • Place of Presentation
      神戸,兵庫
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [Presentation] Expression and cellular localization of the Trk-fused gene (TFG).2012

    • Author(s)
      K Yanagi
    • Organizer
      第35回日本分子生物学会年会
    • Place of Presentation
      福岡
    • Related Report
      2012 Research-status Report
  • [Presentation] Novel mutations of the FGD1 gene in 16 patients with Aarskog-Scott syndrome.2012

    • Author(s)
      T Kaname
    • Organizer
      The American Society of Human Genetics, 62nd Annual Meeting
    • Place of Presentation
      San Francisco, CA, USA
    • Related Report
      2012 Research-status Report
  • [Presentation] ホルモン非抵抗性先端異骨症のエクソーム解析2012

    • Author(s)
      要 匡
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [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
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異解析2012

    • Author(s)
      要 匡
    • Organizer
      第19回日本遺伝子診療学会
    • Place of Presentation
      千葉
    • Related Report
      2012 Research-status Report
  • [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
    • Organizer
      第52回日本先天異常学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] Novel mutations of the FGD1 gene in 16 patients with Aarskog-Scott syndrome.2012

    • Author(s)
      T Kaname
    • Organizer
      EUROPEAN Human Genetics CONFERENCE 2012
    • Place of Presentation
      Nürnberg, Germany
    • Related Report
      2012 Research-status Report
  • [Presentation] Distinct pathogenic substitution of IVS15+5G>A in the SLC26A4 gene in patients with enlarged vestibular aqueduct and Pendred syndrome in Okinawa islands.2012

    • Author(s)
      A Ganaha
    • Organizer
      EUROPEAN Human Genetics CONFERENCE 2012
    • Place of Presentation
      Nürnberg, Germany
    • Related Report
      2012 Research-status Report
  • [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
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011

    • Author(s)
      柳 久美子
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川)
    • Related Report
      2011 Research-status Report
  • [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
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Research-status Report
  • [Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異(続報)2011

    • Author(s)
      柳 久美子
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Research-status Report
  • [Presentation] 沖縄県における前庭水管拡大症の遺伝学的検討2011

    • Author(s)
      我那覇 章
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Research-status Report
  • [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
    • Organizer
      第18回出生前診断研究会
    • Place of Presentation
      佐賀大学医学部(佐賀)
    • Related Report
      2011 Research-status Report
  • [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
    • Organizer
      第84回日本生化学会大会
    • Place of Presentation
      京都国際会館(京都)
    • Related Report
      2011 Research-status Report
  • [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
    • 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)
    • Related Report
      2011 Research-status Report
  • [Presentation] Analysis of interaction between CD96 and extracellular matrix proteins2011

    • Author(s)
      T Kaname
    • Organizer
      44th Annual Meeting for the Japanese Society of Developmental Biologists
    • Place of Presentation
      Okinawa Convention Center, Okinawa
    • Related Report
      2011 Research-status Report
  • [Presentation] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011

    • Author(s)
      T Kaname
    • Organizer
      The American Society of Human Genetics, 60th Annual Meeting
    • Place of Presentation
      Montreal, Quebec, Canada
    • Related Report
      2011 Research-status Report
  • [Remarks]

    • URL

      http://becomerich.lab.u-ryukyu.ac.jp/

    • Related Report
      2013 Final Research Report
  • [Remarks] 琉球大学遺伝性疾患データベース

    • URL

      http://becomerich.lab.u-ryukyu.ac.jp/

    • Related Report
      2013 Annual Research Report
  • [Remarks] 琉球大学遺伝性疾患データベース

    • URL

      http://becomerich.lab.u-ryukyu.ac.jp/

    • Related Report
      2012 Research-status Report
  • [Remarks]

    • URL

      http://becomerich.lab.u-ryukyu.ac.jp/

    • Related Report
      2011 Research-status Report
  • [Remarks] 琉球大学遺伝医学/Home.html

    • URL

      http://web.me.com/knaritomi/

    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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