Wakui Keiko 涌井敬子

… Alternative Names

WAKUI Keiko 涌井敬子

涌井敬子ワクイケイコ

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Researcher Number	50324249
Other IDs
Affiliation (Current)	2025: 信州大学, 学術研究院医学系, 講師
Affiliation (based on the past Project Information) *help	2014 – 2023: 信州大学, 学術研究院医学系, 講師 2013: 信州大学, 医学部, 講師 2007 – 2012: Shinshu University, Medical Genetics, Assistant Professor 2005 – 2006: 信州大学, 医学部, 助手 2003: Shinshu Univ. Sch. Med., Medical Genetics, Assistant Professor, 医学部, 助手 2000: 信州大学, 医学部, 助手
Review Section/Research Field	Principal Investigator Human genetics Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics / Learning support system / Human genetics / Pediatrics / Bioethics / 医療における生命倫理 / Biological Sciences
Keywords	Principal Investigator 3D-FISH解析 / エピジェネティック / RNA-FISH / 相同染色体 / エピジェネティクス / 位置効果 / ゲノム / 遺伝子 / 染色体構造異常 / 1細胞解析 … More / X染色体不活化 / １細胞解析 / position effects / genome / gene / 3D-FISH analysis / structural chromosomal abnormality / 15q1 / 三次元距離 / 核内配置 / SNRPN / 片親性発現 / RNA-FISH解析 / 単一細胞解析 / 3D-FISH / インプリンティング / 遺伝子発現 / 三次元核内配置 / 細胞遺伝学 … More Except Principal Investigator マイクロアレイ染色体検査 / 遺伝カウンセリング / 遺伝学的検査 / 次世代シークエンス解析 / 神経発達症 / DBCRs / FISH / fluorescence in situ hybridization / Mendelian Cytogenetics / 知的障害 / 次世代シークエンサー / ELSI / ガイドライン / 遺伝子診療 / 網羅的DNAメチル化解析 / 知的発達症 / ヒストンリジンメチル化 / 次世代シークエンス / マイクロアレイ染色体解析 / 疾患関連遺伝子カスタムパネル解析 / 遺伝的要因 / てんかん / 自閉スペクトラム症 / 教材開発 / 染色体検査 / 遺伝医学 / cytogenetics / 細胞遺伝 / balanced translocation / chromosome rearrangement / chromosome abnormality / positional cloning / BAC / YAC / ボジショナルクローニング / BACクローン / 思春期早発症 / 染色体構造異常 / FISH解析 / 特発性思春期早発症 / 染色体均衡型構造異常 / 相互転座 / 均衡型構造異常 / 染色体異常 / ポジショナルクローニング / パネル解析 / 知的障害原因 / 臨床エクソーム解析 / エクソーム解析 / 疾患パネル解析 / 国際情報交換 / 全エクソーム解析 / 候補遺伝子解析 / 次世代シーケンス / 結合組織疾患 / 新規病型 / エーラスダンロス症候群 / 偶発的所見 / 遺伝子診断ビジネス / マイクロアレイ / パーソナルゲノム / 3D-FISH / 染色体テリトリー / ATRX / クロマチンリモデリング / 細胞遺伝学 / エピジェネティクス / 分子遺伝学 / 遺伝情報 / 指針 / 遺伝子診断 / ゲノム医学 / ゲノム情報 / 社会医学 / 生命倫理 / ゲノム / 遺伝学 Less

知的発達症におけるヒストンリジンメチル化の役割の解明
- Principal Investigator
  
  高野亨子
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Genetic evaluation of patients with neurodevelopmental disorders
- Principal Investigator
  
  Takano Kyoko
- Project Period (FY)
  2018 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Development of a hands-on cytogenetics training program for genomic medical workers
- Principal Investigator
  
  KAWAMURA Rie
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Learning support system
- Research Institution
  Fujita Health University
  Shinshu University
Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analysesPrincipal Investigator
- Principal Investigator
  
  Wakui Keiko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencing
- Principal Investigator
  
  TAKANO Kyoko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shinshu University
Clinical and molecular investigation for new forms of Ehlers-Danlos syndrome
- Principal Investigator
  
  KOSHO Tomoki
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
The three-dimensional distances between the genes on each homologous chromosome in each cell as nuclear organization and genomic expression of the imprinted gene.Principal Investigator
- Principal Investigator
  
  WAKUI Keiko
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Ethical, Legal and Social Implications in the Personal Genome Era
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Bioethics
- Research Institution
  Shinshu University
3D nuclear architecture of the regions close to the candidate gene (s) related to the constitutional chromosomal abnormalitiesPrincipal Investigator
- Principal Investigator
  
  WAKUI Keiko
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Study of the effect on the chromosomal territory in the nucleus by the mutated chromatin remodeling protein, ATRX
- Principal Investigator
  
  WADA Takahito
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Establishment of Ethics Guideline in Medical Genetics
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2006 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  医療における生命倫理
- Research Institution
  Shinshu University
A balanced chromosomal translocation affects the inner nucleus positioning of thederivative chromosomes or not.Principal Investigator
- Principal Investigator
  
  WAKUI Keiko
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Clinical application of genome-medical research
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2005 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Shinshu University
Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2000 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University

[Book] 臨床細胞遺伝学,遺伝子医学MOOK別冊いまさら聞けない『遺伝医学』2014
- Author(s)
  涌井敬子
- Publisher
  メディカルドゥ
- Data Source
  KAKENHI-PROJECT-24659156
[Journal Article] CTCF deletion syndrome: Clinical features and epigenetic delineation2017
- Author(s)
  Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 54 Issue: 12 Pages: 836-842
- DOI
  10.1136/jmedgenet-2017-104854
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K07248, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-26293365, KAKENHI-PROJECT-15K08330
[Journal Article] Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.2016
- Author(s)
  Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170 Issue: 2 Pages: 322-328
- DOI
  10.1002/ajmg.a.37432
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461522
[Journal Article] Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).2015
- Author(s)
  Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167 Issue: 3 Pages: 592-601
- DOI
  10.1002/ajmg.a.36942
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591610, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-26461620, KAKENHI-PLANNED-24118007
[Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.2014
- Author(s)
  Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 9999 Issue: 5 Pages: 1-5
- DOI
  10.1002/ajmg.a.36433
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791844, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25462767
[Journal Article] Follow- up nationwide survey on predictive genetic testing for late- onset hereditary neurological diseases in Japan2013
- Author(s)
  Keiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, Mariko Tamai, Tomoki Kosho, Akihiro Sakurai, Keiko Wakui, Shu- ichi Ikeda, Yoshimitsu Fukushima
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 58 Pages: 560-563
- NAID
  10031195287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23613004
[Journal Article] Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan2013
- Author(s)
  Tanaka K, Sekijima Y, Yoshida K, Tamai M, Kosho T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 8 Pages: 560-563
- DOI
  10.1038/jhg.2013.34
- NAID
  10031195287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591237, KAKENHI-PROJECT-23613004
[Journal Article] Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.2013
- Author(s)
  Keiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, Mariko Tamai, Tomoki Kosho, Akihiro Sakurai, Keiko Wakui, Shu-ichi Ikeda, Yoshimitsu Fukushima
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 58
- NAID
  10031195287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23613004
[Journal Article] Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.2013
- Author(s)
  Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Oh-Ishi T, Kawame H, Narumi Y, Ohashi H, Fukushima Y
- Journal Title
  
  American Journal of Medical Genetics, Part A
  
  Volume: 164A Issue: 3 Pages: 597-609
- DOI
  10.1002/ajmg.a.36308
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23613004, KAKENHI-PROJECT-25460405
[Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization2012
- Author(s)
  Kawamura, R., Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
- Journal Title
  
  Chromosome Res.
  
  Volume: 20
- NAID
  120006576054
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24659156
[Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.2012
- Author(s)
  Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K.
- Journal Title
  
  Chromosome Res.
  
  Volume: 20 Issue: 6 Pages: 659-672
- DOI
  10.1007/s10577-012-9300-5
- NAID
  120006576054
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24659156, KAKENHI-PUBLICLY-23125505
[Journal Article] De-novo balanced translocation between 7q31 and 10p14 ina girl with central precocious puberty, moderate mental retardation, and severe speech impairment.2008
- Author(s)
  Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y.
- Journal Title
  
  Clin Dysmorphol 17
  
  Pages: 31-34
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p362008
- Author(s)
  Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matumoto N, Kato M, Wakui K, Fukushima Y
- Journal Title
  
  Am J Med Genet 16A
  
  Pages: 2891-2897
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019025
[Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.2008
- Author(s)
  Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y
- Journal Title
  
  Clin Dysmorphol 17
  
  Pages: 31-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment2008
- Author(s)
  Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsu moto N. Fukushima Y
- Journal Title
  
  Clin Dysmorphol 17
  
  Pages: 31-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019025
[Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment2008
- Author(s)
  Kosho, T., Sakazume, S., Kawame, H., Wakui, K., Wada, T., Okoshi, Y., Mikawa, M., Hasegawa, T., Matsuura, N., Niikawa, N., Matsumoto, N., Fukushima, Y
- Journal Title
  
  Clin Dysmorphol 17
  
  Pages: 31-34
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] Nation wide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan2007
- Author(s)
  Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
- Journal Title
  
  J Hum Genet 52
  
  Pages: 675-679
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18612003
[Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes2007
- Author(s)
  Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimuth, G., Kato, H., Fukushima, Y
- Journal Title
  
  Am J Med Genet 43A
  
  Pages: 2598-2603
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in awoman with severe progressive skeletal changes.2007
- Author(s)
  Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y.
- Journal Title
  
  Am J Med Genet 43A
  
  Pages: 2598-2603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] A genomewide linkage analysis of Kawasaki disease : evidence for linkage to chromosome 122007
- Author(s)
  Onouchi, Y., Tamari, M., Takahashi, A., Tsunoda, T., Yashiro, M., Nakamura, Y., Yanagawa, H., Wakui, K., Fukushima, Y., Kawasaki, T., Nakamura, Y., Hata, A
- Journal Title
  
  J Hum Genet 52
  
  Pages: 179-190
- NAID
  10018514642
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.2007
- Author(s)
  Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y.
- Journal Title
  
  Am J Med Genet 43A
  
  Pages: 2598-2603
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.2007
- Author(s)
  Onouchi Y, Tamari M, Takahashi A, Tsunoda T, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kawasaki T, Nakamura Y, Hata A.
- Journal Title
  
  J Hum Genet 52
  
  Pages: 179-190
- NAID
  10018514642
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia2007
- Author(s)
  Hidaka, E., Tanaka, M., Matsuda, K., Ishikawa-Matsumura, M., Yamauchi, K., Sano, K., Honda, T., Wakui, K., Yanagisawa, R., Nakazawa, Y., Sakashita, K., Shiohara, M., Ishii, E., Koike, K
- Journal Title
  
  Cancer Genet Cytogenet 176
  
  Pages: 137-413
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] A complex karyotype, including a three-way translocationg enerating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia.2007
- Author(s)
  Hidaka E, Tanaka M, Matsuda K, Ishikawa-Matsumura M, Yamauchi K, Sano K, Honda T, Wakui K, Yanagisawa R, Nakazawa Y, Sakashita K, Shiohara M, Ishii E, Koike K.
- Journal Title
  
  Cancer Genet Cytogenet 176
  
  Pages: 137-413
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia.2007
- Author(s)
  Hidaka E, Tanaka M, Matsuda K, Ishikawa-Matsumura M, Yamauchi K, Sano K, Honda T, Wakui K, Yanagisawa R, Nakazawa Y, Sakashita K, Shiohara M, Ishii E, Koike K.
- Journal Title
  
  Cancer Genet Cytogenet 176
  
  Pages: 137-413
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590311
[Journal Article] Nation wide survey on predictive genetic testing for late-onset,incurable neurological diseases in Japan2007
- Author(s)
  Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
- Journal Title
  
  J Hum Genet 52
  
  Pages: 675-679
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019025
[Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes2007
- Author(s)
  Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y
- Journal Title
  
  Am J Med Genet 43A
  
  Pages: 2598-2603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019025
[Journal Article] 遺伝学的検査に関する注意点2007
- Author(s)
  涌井敬子, 福嶋義光
- Journal Title
  
  検査と技術 35(2)
  
  Pages: 162-165
- Data Source
  KAKENHI-PROJECT-18612003
[Journal Article] 医学教育における遺伝カウンセリング・ロールプレイ実習.2005
- Author(s)
  櫻井晃洋, 古庄知己, 和田敬仁, 涌井敬子, 川目裕, 玉井眞理子, 福嶋義光
- Journal Title
  
  家族性腫瘍 5
  
  Pages: 51-56
- NAID
  130007539463
- Data Source
  KAKENHI-PROJECT-17019025
[Presentation] Three patients with Wiedemann-Steiner syndrome2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Keiko Wakui, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2023）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Three patients with Wiedemann-Steiner syndrome2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Keiko Wakui, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2023）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] DeSanto-Shinawi症候群の２例2022
- Author(s)
  高野亨子、原田　由紀子、山口智美、涌井敬子、古庄知己
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 信州大学医学部附属病院遺伝子医療研究センターにおけるてんかん遺伝子パネル解析の有用性の検討2021
- Author(s)
  高野亨子、山口智美、涌井敬子、福山哲広、武田良淳、古庄知己
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 早期の歯の交換を示したWiedemann-Steiner症候群の2例2021
- Author(s)
  高野亨子、正村正仁、村上康彦、山口智美、阪下達哉、花房宏昭、湊川真理、涌井敬子、柴崎拓実7、上田宗胤、大須賀直人、古庄知己
- Organizer
  第43回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] “Ion AmpliSeq data のCNV検出法”を用いたCNV解析が遺伝学的診断に有用であった2例2020
- Author(s)
  高野亨子、西尾信哉、山口智美、涌井敬子、福山哲広、久保田紀子、武田良淳、古庄知己
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] TRIO遺伝子関連知的障害の親子例2020
- Author(s)
  阪下達哉，高野亨子，柴直子，小島朋美，山口智美，涌井敬子，古庄知己
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] SYNGAP1関連知的障害の5例2020
- Author(s)
  高野亨子、福山哲広、本林光雄、山崎佐和子、山口智美、涌井敬子、柳久美子、要匡、古庄知己
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 過成長を伴う発達遅滞・知的障害の遺伝要因および臨床症状の検討2019
- Author(s)
  高野亨子、藤田直久、福山哲広、本林光雄、稲葉雄二、細谷まち子、山口智美、涌井敬子、要匡、秦健一郎、福嶋義光、古庄知己
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 信大病院遺伝子医療研究センター「ID外来」におけるマイクロアレイおよび次世代シークエンサーを用いた遺伝学的診断 -第2報-2019
- Author(s)
  高野亨子、涌井敬子、山口智美、湊川真理、花房宏昭、武田良淳、石川真澄、黄瀬恵美子、小島朋美、福山哲広、夏目岳典、本林光雄、稲葉雄二、平林伸一、笛木昇、要匡、秦健一郎、松原洋一、福嶋義光、古庄知己
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Smith-Kingsmore症候群の2例2019
- Author(s)
  髙野亨子、山口智美、涌井敬子、福嶋義光、古庄知己
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Genetic evaluation of patients with neurodevelopmental disorders at the Center for Medical Genetics, Shinshu University Hospital in Matsumoto, Japan.2019
- Author(s)
  Kyoko Takano, Keiko Wakui, Tomomi Yamaguchi, Tetsuhiro Fukuyama, Yuji Inaba, Tadashi Kaname, Kenichiro Hata, Yoichi Matsubara, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  19th International Workshop on Fragile X and other Neurodevelopmental Disorders
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] CNVs情報を基に選択したBACクローンのプローブミックスによる染色体分裂像多色FISH解析～複雑構造異常染色体・構造異常染色体モザイクの同定～2019
- Author(s)
  涌井敬子，羽田明，朽方豊夢，水野誠司，古庄知己，福嶋義光
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K00481
[Presentation] Three individuals with neurodevelopmental disorders caused by heterozygous protein- truncating variants in KMT5B.2018
- Author(s)
  Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  米国人類遺伝学会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] KMT5B遺伝子変異による神経発達症の3例2018
- Author(s)
  髙野亨子、福山哲弘、本林光雄、細谷まち子、山口智美、河村理恵、涌井敬子、福嶋義光、古庄知己
- Organizer
  日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 信州大学医学部附属病院遺伝子医療研究センター知的障害（ID）外来の取り組み2017
- Author(s)
  高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、西恵理子、笛木昇、山口智美、涌井敬子、柳久美子、要匡、秦健一郎、古庄知己、福嶋義光
- Organizer
  第59回日本小児神経学会学術集会
- Place of Presentation
  大阪国際会議場(大阪市）
- Year and Date
  2017-06-15
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] CTCF遺伝子欠失を認めた2女児の臨床的および遺伝学的検討2016
- Author(s)
  堀いくみ, 河村理恵, 中林一彦, 家田大輔, 大橋圭, 根岸豊, 服部文子, 杉尾嘉嗣, 涌井敬子, 黒澤健司, 秦健一郎, 副島英伸, 齋藤伸治
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田北館ホール
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-15K08330
[Presentation] SHANK3遺伝子変異を認めた1女児例2016
- Author(s)
  高野亨子、古庄知己、涌井敬子、福嶋義光
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル新宿（東京都）
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 肝脾腫を呈したCoffin-Siris症候群の1男児例2016
- Author(s)
  高野亨子、本林光雄、山口智美、涌井敬子、稲葉雄二、古庄知己、福嶋義光
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学（東京都）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Hepatosplenomegaly as the initial manifestation of Coffin-Siris syndrome caused by an ARID1B mutation.2016
- Author(s)
  Kyoko Takano, Mitsuo Motobayashi, Tomomi Yamaguchi, Keiko Wakui, Yuji Inaba, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  第66回米国人類遺伝学会
- Place of Presentation
  バンクーバーコンベンションセンター（カナダ）
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Genetic evaluation of patients with intellectual disability (ID) using chromosomal microarray and targeted next-generation sequencing at the “ID clinic”2016
- Author(s)
  Kyoko Takano, Tomoki Kosho, Keiko Wakui, Motoko Kamiya, Mitsuo Motobayashi, Naoko Shiba, Tetsuhiro Fukuyama, Noboru Fueki, Shinichi Hirabayashi, Eriko Nishi, Masumi Ishikawa, Emiko Kise, Tomomi Yamaguchi, Rie Kawamura, Yuji Inaba, Yoshimitsu Fukushima
- Organizer
  ICHG 2016
- Place of Presentation
  京都国際会館（京都市）
- Year and Date
  2016-04-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Xp21欠失女性症例における不活化X染色体解析　 ―構造異常X染色体を識別するRNA/DNA-FISH解析―2015
- Author(s)
  河村理恵，伊波若葉，福嶋義光，涌井敬子
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（新宿・東京）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K08330
[Presentation] Two patients diagnosed with BPAN in infancy.2015
- Author(s)
  Kyoko Takano, Naoko Shiba, Kazuya Goto, Tomomi Yamaguchi, Keiko Wakui, Tomoki Kosho, Yuji Inaba, Yoshimitsu Fukushima
- Organizer
  ASHG 2015
- Place of Presentation
  Baltimore（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Establishment of a single-cell RNA/DNA-FISH method for detecting inactivation patterns of structural X chromosome abnormalities2015
- Author(s)
  Rie KAWAMURA, Wakaba IHA, Yoshimitsu FUKUSHIMA, Keiko WAKUI
- Organizer
  第10回European Cytogenetics Conference
- Place of Presentation
  ストラスブール（フランス）
- Year and Date
  2015-07-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K08330
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来開設1年間の成果－遺伝学的背景・臨床症状の検討－2015
- Author(s)
  高野亨子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、石川真澄、黄瀬恵美子、山口智美、河村理恵、涌井敬子、古庄知己、福嶋義光
- Organizer
  第38回日本小児遺伝学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター（横浜市）
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来受診患者の遺伝学的背景・臨床症状の検討2015
- Author(s)
  高野亨子、古庄知己、涌井敬子、神谷素子、石川真澄、黄瀬恵美子、山口智美、河村理恵、西恵理子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、福嶋義光
- Organizer
  日本人類遺伝学会第６０回大会
- Place of Presentation
  京王プラザホテル（東京都）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Visualization of XIST expression in a female with structural X chromosome abnormality : Single-cell analysis by three-color interphase RNA-FISH2014
- Author(s)
  Iha, W., Kawamura, R., Yamaguchi, T., Fukushima, Y., Wakui, K(代表)
- Organizer
  European Human Genetics Conference 2014
- Place of Presentation
  Milano, Italy
- Year and Date
  2014-06-01
- Data Source
  KAKENHI-PROJECT-24659156
[Presentation] デルマタン4-O-硫酸基転移酵素（D4ST1）欠損によるEhlers-Danlos症候群（DDEDS）の疾患モデルの構築と検証2013
- Author(s)
  古庄知己、岳鳳鳴、坂翔太、積田奈々、笠原優子、岡田尚巳、水本秀二、小林身哉、中山淳、三宅紀子、野村義宏、江良択実、籏持淳、石川真澄、涌井敬子、福嶋義光、松本直通、菅原一幸、佐々木克典、武田伸一
- 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（宮城県仙台市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の発現パターン解析2012
- Author(s)
  河村理恵、齋藤伸治、田辺秀之、和田敬仁、福嶋義光、涌井敬子
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-24659156
[Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization2012
- Author(s)
  Kawamura, R.(代表), Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
- Organizer
  European Human Genetics Conference 2012
- Place of Presentation
  Nürnberg, Germany
- Year and Date
  2012-06-24
- Data Source
  KAKENHI-PROJECT-24659156
[Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization2012
- Author(s)
  Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K.
- Organizer
  European Human Genetics Conference 2012
- Place of Presentation
  Nurnberg, Germany
- Data Source
  KAKENHI-PROJECT-24659156
[Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の発現パターン解析2012
- Author(s)
  河村理恵(代表),齋藤伸治,田辺秀之,和田敬仁,福嶋義光,涌井敬子
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Year and Date
  2012-10-27
- Data Source
  KAKENHI-PROJECT-24659156
[Presentation] 疾病中心から患者中心の希少難治性疾患研究を可能とする患者支援団体と専門家集団とのネットワーク構築2012
- Author(s)
  福嶋義光, 松原洋一, 野村文夫, 斎藤加代子, 高田史男, 小杉眞司, 玉置知子, 櫻井晃洋, 関島良樹, 涌井敬子, 加藤光広, 小泉二郎
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  幕張
- Year and Date
  2012-10-24
- Data Source
  KAKENHI-PROJECT-23613004
[Presentation] 3D-FISH法による15q11.2-q12領域の細胞核内配置の解析2010
- Author(s)
  河村理恵, 涌井敬子, 田辺秀之, 和田敬仁, 斉藤伸治, 福嶋義光
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  埼玉
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-20590328
[Presentation] 3D-FISH法による15q11.2-q12領域の細胞核内配置の解析2010
- Author(s)
  河村理恵, 涌井敬子, 田辺透之, 和田敬仁, 斉藤伸治, 福嶋義光
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-20590328
[Presentation] 3D-FISH法による細胞核内染色体テリトリー計測における細胞周期の影響にいて2009
- Author(s)
  河村理恵, 涌井敬子, 和田敬仁, 田辺秀之, 福嶋義光
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-20590328
[Presentation] 3D-FISH法における細胞核内染色体間距離の計測について2009
- Author(s)
  涌井敬子, 河村理恵, 和田敬仁, 田辺透之, 福嶋義光
- Organizer
  定量生物の会第1回キャラバン遺伝研
- Place of Presentation
  三島
- Year and Date
  2009-03-14
- Data Source
  KAKENHI-PROJECT-20590328
[Presentation] 3D-FISH法による細胞核内染色体テリトリー計測における細胞周期の影響について2009
- Author(s)
  河村理恵, 涌井敬子, 和田敬仁, 田辺透之, 福嶋義光
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-20590328
[Presentation] 3D-FISH解析における細胞核内染色体間距離の計測について2009
- Author(s)
  涌井敬子、河村理恵、和田敬仁、田辺秀之、福嶋義光
- Organizer
  定量生物学の会第1回キャラバン遺伝研
- Place of Presentation
  静岡
- Year and Date
  2009-03-13
- Data Source
  KAKENHI-PROJECT-19590331
[Presentation] 3D-FISH解析における細胞核内染色体間距離の計測について.2009
- Author(s)
  涌井敬子, 河村理恵, 和田敬仁, 田辺秀之, 福嶋義光.
- Organizer
  定量生物学の会第1回キャラバン
- Place of Presentation
  静岡
- Year and Date
  2009-03-13
- Data Source
  KAKENHI-PROJECT-19590331
[Presentation] 3D-FISH解析における細胞核内染色体間距離の計測について2009
- Author(s)
  涌井敬子, 河村理恵, 和田敬仁, 田辺秀之, 福嶋義光
- Organizer
  定量生物学の会第1回キャラバン遺伝研
- Place of Presentation
  静岡
- Year and Date
  2009-03-13
- Data Source
  KAKENHI-PROJECT-20590328
[Presentation] Molecular cytogenetic analysis of subtelomeric regions for a structural abnormalities of chromosome 12 and interpretations of the results2007
- Author(s)
  Kinishita, Y., Wakui, K., Furui, T., Shinogi, K., Fukui, T., Kawamura, R., Yokoyama, S., Higashi, H., Fukushima, Y
- Organizer
  The Japan Society of Human Genetics
- Place of Presentation
  Tokyo
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] Discrepancies of the results between MLPA and FISH, and between MLPA kits, observed in a case of subtelomeric imbalances of chromosome 122007
- Author(s)
  Wakui, K., Kinishita, Y., Furui, Y., Shinogi, K., Fukui, T., Kawamura, R., Gonda N., Yokoyama, S., Higashi, H., Fukushima, Y
- Organizer
  The American Society of Human Genetics
- Place of Presentation
  San Diego, USA
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] A case of pure dup 9q34 confirmed by Subtelomeric FISH analyses2007
- Author(s)
  Imagawa, E., Kosho, T., Matsuda, K., Higuchi, Y., Uhara, M., Yamauchi, K., Katuyama, T., Hidaka, E., Shiba, N., Arai, F., Wakui, K., Fukushima, Y
- Organizer
  The Japan Society of Human Genetics
- Place of Presentation
  Tokyo
- Year and Date
  2007-09-15
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] 12番染色体構造異常例における分子細胞遺伝学的サブテロメアの解析と結果解釈の留意点2007
- Author(s)
  木下由子, 涌井敬子, 古井陽介, 篠木加奈, 福井崇史, 河村理恵, 横山士郎, 東央晋, 福嶋義光
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] A Ipso deletion syndrome with >10Mb deletion and uncommon clinical features2007
- Author(s)
  Kawamura, R., Wakui, K., Saito, S., Wada, T., Kato, K., Kosho, T., Fukushima, Y
- Organizer
  The Japan Society of Human Genetics
- Place of Presentation
  Tokyo
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] MLPA法による染色体サブテロメア量的不均衡についての解析結果とその細胞遺伝学的解釈について2007
- Author(s)
  涌井敬子, 古井陽介, 篠木加奈, 福井崇史, 河村理恵, 木下由子, 古庄知己, 和田敬仁, 横山士郎, 東央晋, 福嶋義光
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-15
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] 10Mb以上の欠失と稀な合併症を伴う1p36欠失症候群の一例2007
- Author(s)
  河村理恵, 涌井敬子, 齋藤章治, 和田敬仁, 加藤光広, 古庄知己, 福嶋義光.
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] Discrepancies of the results between MLPA and FISH, and between MLPA kits, observed in a case of subtelomeric imbalances of chromosome 12.2007
- Author(s)
  Wakui K, Kinishita Y, Furui Y, Shinogi K, Fukui T, Kawamura R, Gondo N, Yokoyama S, Higashi H, Fukushima Y.
- Organizer
  The American Society of Human Genetics
- Place of Presentation
  San Diego, USA
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] MLPA法による染色体サブテロメア量的不均衡についての解析結果とその細胞遺伝学的解釈にっいて2007
- Author(s)
  涌井敬子, 古井陽介, 篠木加奈, 福井崇史, 河村理恵, 木下由子, 古庄知己, 和田敬仁, 横山士郎, 東央晋, 福嶋義光
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-15
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] Analytical validity on MLPA method for detecting subtelomeric irnbalances2007
- Author(s)
  Wakui, K., Furui, Y., Shinogi, K. Fukui, T., Kawamura, R., Kosho, T., Wada, T., Yokoyama, S., Higashi, H., Fukushima, Y
- Organizer
  The Japan Society of Human Genetics
- Place of Presentation
  Tokyo
- Year and Date
  2007-09-15
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] Subtelomeric FISH法により確認されたpure dup 9q34の一例2007
- Author(s)
  今川英里, 古庄知己, 松田和之, 樋口由美子, 宇原美帆, 山内一由, 勝山努, 日高惠以子, 柴直子, 荒井史, 涌井敬子, 福嶋義光
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-15
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590311
[Presentation] A duplication of the CDKL5 gene identified in a boy with developmental delay with autistic behavior, short stature and microcephaly
- Author(s)
  Kyoko Takano, Takafumi Nishimura, Keiko Wakui, Satoru Takahashi, Yuji Inaba, Tomoki Kosho, Yoshimitsu Fukushima
- Organizer
  米国人類遺伝学会
- Place of Presentation
  San Diego Convention Center（米国）
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 疾病中心から患者中心の希少難治性疾患研究を可能とする患者支援団体と専門家集団とのネットワーク構築
- Author(s)
  福嶋義光，松原洋一，野村文夫，斎藤加代子，高田史男，小杉眞司，玉置知子，櫻井晃洋，関島良樹，涌井敬子，加藤光広，小泉二郎
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  幕張
- Data Source
  KAKENHI-PROJECT-23613004
[Presentation] CDKL5遺伝子重複を認めた低身長と小頭症を伴う発達遅滞の男児例
- Author(s)
  高野　亨子、西村　貴文、涌井　敬子、山口　智美、高橋　悟、稲葉　雄二、古庄　知己、福嶋　義光
- Organizer
  日本人類遺伝学会59回大会
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461522

1. FUKUSHIMA Yoshimitsu (70273084)

# of Collaborated Projects: 12 results

# of Collaborated Products: 61 results
2. KOSHO Tomoki (90276311)

# of Collaborated Projects: 7 results

# of Collaborated Products: 26 results
3. WADA Takahito (70359727)

# of Collaborated Projects: 4 results

# of Collaborated Products: 9 results
4. TAKANO Kyoko (70392420)

# of Collaborated Projects: 4 results

# of Collaborated Products: 23 results
5. KAWAMURA Rie (20735534)

# of Collaborated Projects: 4 results

# of Collaborated Products: 16 results
6. SAKURAI Akihiro (70262706)

# of Collaborated Projects: 3 results

# of Collaborated Products: 8 results
7. TANABE Hideyuki (50261178)

# of Collaborated Projects: 3 results

# of Collaborated Products: 14 results
8. TAMAI Mariko (80283274)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
9. SAITOH Shinji (00281824)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
10. MATSUMOTO Naomichi (80325638)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
11. MARUYAMA Eiji (10030636)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. KOSUGI Shinji (50252432)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. NUMABE Hironao (00237801)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. HATAMOCHI Atsushi (90172923)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
15. MIYAYE Noriko (40523494)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
16. MORISAKI Hiroko (40311451)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. WATANABE Atsushi (10307952)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. KANAME Tadashi (40264288)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
19. MURASE Sumio (70200285)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. KUBOTA Takeo (70293511)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. 稲葉雄二 (30334890)

# of Collaborated Projects: 1 results

# of Collaborated Products: 10 results
22. 坂爪悟 (70306174)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
23. 川目裕 (60246395)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
24. AWAZU Midori

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. SEKIJIMA Yoshiki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. NARUMI Yoko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 7 results
28. 飛彈麻里子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 冨川順子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Wakui Keiko 涌井 敬子

WAKUI Keiko 涌井 敬子

涌井 敬子 ワクイ ケイコ

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Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analysesPrincipal Investigator

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The three-dimensional distances between the genes on each homologous chromosome in each cell as nuclear organization and genomic expression of the imprinted gene.Principal Investigator

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3D nuclear architecture of the regions close to the candidate gene (s) related to the constitutional chromosomal abnormalitiesPrincipal Investigator

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A balanced chromosomal translocation affects the inner nucleus positioning of thederivative chromosomes or not.Principal Investigator

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Wakui Keiko 涌井敬子

WAKUI Keiko 涌井敬子

涌井敬子ワクイケイコ