Yanagi Kumiko 柳久美子

… Alternative Names

YANAGI Kumiko 柳久美子

YANAGAI Kumiko 柳久美子

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Researcher Number	90294701
Other IDs
Affiliation (Current)	2025: 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 室長
Affiliation (based on the past Project Information) *help	2024: 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 室長 2020 – 2023: 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 研究員 2013: 琉球大学, 大学院医学研究科, 助教 2011: 琉球大学, 大学院・医学研究科, 助教 2010 – 2011: 琉球大学, 医学研究科, 助教 … More 2009: 国立大学法人琉球大学, 医学部, 助教 2009: University of the Ryukyus, 医学部・医科遺伝学分野, 助教 2007 – 2008: 琉球大学, 医学部, 助教 2003 – 2006: 琉球大学, 医学部, 助手 1997 – 2000: 徳島大学, 歯学部, 助手 Less
Review Section/Research Field	Principal Investigator Basic Section 57020:Oral pathobiological science-related / Human genetics / Morphological basic dentistry Except Principal Investigator Pediatrics / Human genetics / 病態科学系歯学(含放射線系歯学) / Basic Section 56050:Otorhinolaryngology-related / Experimental pathology / Morphological basic dentistry / Biological Sciences
Keywords	Principal Investigator ロングリードシーケンス / 全ゲノム解析 / 鰓弓症候群 / 無歯症 / 無顎症 / 頭・骨幹端異形成症 / 先天奇形疾患 / ゼブラフィッシュ / 前頭・骨幹端異形成症(FMD) / 心脊椎手根骨顔症候群(CSCF) … More / 特異的顔貌 / 網羅的遺伝学的解析 / 表現型異質性 / 単一遺伝性疾患 / MAP3K7 / 前頭・骨幹端異形成症 / 心脊椎手根骨顔症候群 / 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 / B細胞エピトープ / T細胞エピトープ / 自己抗原 / シェーグレン症候群 … More Except Principal Investigator DT40 / BAC / シェーグレン症候群 / α-fodrin / Autoantigen / Sjogren's syndrome / α-フォドリン / 自己抗原 / NFS / 疾患モデル / 遺伝子 / 奇形症候群 / position effect / gene therapy / site specific recombination / chromosome X / human artificial chromosomes / 遺伝子治療 / Apoptosis / Animal model / アポトーシス / T細胞エピトープ / 自己反応性T細胞 / sldマウス / ヒト人工染色体 / Cre / 自己免疫疾患 / 小児固形腫瘍 / 遺伝子多型 / 聴力障害 / 白金製剤 / 小児固形癌 / 進行性難聴 / 感音難聴 / シスプラチン難聴 / 薬剤感受性遺伝子 / 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 / peptide-based immunotherapy / fusion protein / α-fodrin cDNA / ELISA assay / specific diagnostic system / autoantigen / autoimmune disease / 高感度ELISA / 抗原エピトープ / 特異的治療法 / リコンビナント蛋白 / α-fodrin遺伝子 / ELISA法 / 特異的診断法 / Estrogen-deficiency / AICD / Fas Ligand / Caspase / 膜骨格タンパク / 実験的治療 / deletin mutagenesis法 / 末梢トレランス / アナログペプチド / エストロジェン欠乏 / カスパーゼ / alpha-fodrin / B cell epitope / T cell epitope / Autoreactive T cells / sld mouse / Sjogren syndrome / Therapeutic effect / Cleavage / Fusion protein / シェ-グレン症候群 / Bcl-2フアミリー / Fas抗原 / B細胞エピトープ / 次世代シーケンサ / 高精度融解曲線分析法 / 診断用ソフトウェア / マイクロアレイ / 次世代シーケンサー / ゲノム / 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 / 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 / モデルマウス / 唾液腺 / p16 / 老化 Less

Development of a pipeline for whole genome sequencing dedicated to craniofacial diseasesPrincipal Investigator
- Principal Investigator
  
  柳久美子
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 57020:Oral pathobiological science-related
- Research Institution
  National Center for Child Health and Development
Identification of susceptibility genes to elucidate the pathogenesis of drug-induced hearing loss.
- Principal Investigator
  
  MORIMOTO NORIKO
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56050:Otorhinolaryngology-related
- Research Institution
  National Center for Child Health and Development
Pathogenesis of phenotypic heterogeneity in MAP3K7 related disordersPrincipal Investigator
- Principal Investigator
  
  Yanagi Kumiko
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 57020:Oral pathobiological science-related
- Research Institution
  National Center for Child Health and Development
Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis
- 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 disorderPrincipal Investigator
- 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
  
  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
自己免疫疾患老化モデルにおけるp16の解析
- Principal Investigator
  
  HANEJI Norio
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  病態科学系歯学(含放射線系歯学)
- Research Institution
  The University of Tokushima
Analysis of the mechanism of membranous proteolysis and the immunoregulation for Sjogren's syndrome
- Principal Investigator
  
  HAYASHI Yoshio
- Project Period (FY)
  2000 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  病態科学系歯学(含放射線系歯学)
- Research Institution
  The University of Tokushima
Development of disease-specific diagnosis and immunotherapy for Sjogren's syndrome
- Principal Investigator
  
  HAYASHI Yoshio
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Experimental pathology
- Research Institution
  The University of Tokushima
シェーグレン症候群における唾液腺特異的自己抗原エピトープの同定とその臨床応用Principal Investigator
- Principal Investigator
  
  柳久美子
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Morphological basic dentistry
- Research Institution
  The University of Tokushima
A study of molecular pathology in experimental Sjogren's syndrome in mice
- Principal Investigator
  
  HAYASHI Yoshio
- Project Period (FY)
  1996 – 1998
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Morphological basic dentistry
- Research Institution
  The University of Tokushima

All 2023 2022 2021 2020 2014 2013 2012 2011 2010 2009 2008 2005 2004

All Journal Article Presentation Book

[Book] Osteosarcoma and midkine. Midkine : From embryogenesis to pathogenesis and medication2012
- Author(s)
  T Kaname、K Yanagi、H Maehara
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-21590362
[Book] Midkine : From embryogenesis to pathogenesis and medication2012
- Author(s)
  Kaname T, Yanagi K, Maehara H. Osteosarcoma and midkine
- Publisher
  Springer(in press)
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing2023
- Author(s)
  Yanagi Kumiko、Coker Jonathan、Miyana Kaori、Aso Seijiro、Kobayashi Nana、Satou Kazuhito、Richman Adam、Indupuru Suneel、Matsubara Yoichi、Kaname Tadashi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 6 Pages: 431-435
- DOI
  10.1038/s10038-023-01130-8
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study2023
- Author(s)
  Haga Shunsuke、Takeguchi Ryo、Tanaka Ryosuke、Satake Akira、Makita Yoshio、Yanagi Kumiko、Kaname Tadashi、Takahashi Satoru
- Journal Title
  
  Brain and Development
  
  Volume: - Issue: 7 Pages: 390-394
- DOI
  10.1016/j.braindev.2023.02.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome2022
- Author(s)
  Nishi E, Takenouchi T, Miya F, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Mizuno S, Kaname T, Kosaki K, Okamoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 188 Issue: 2 Pages: 446-453
- DOI
  10.1002/ajmg.a.62533
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI2022
- Author(s)
  Chinen Yasutsugu、Nakamura Sadao、Yanagi Kumiko、Kaneshi Takuya、Goya Hideki、Yoshida Tomohide、Satou Kazuhito、Kaname Tadashi、Naritomi Kenji、Nakanishi Koichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1
- DOI
  10.1038/s41439-022-00187-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] GFAP variant p.Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease2021
- Author(s)
  Takeuchi H, Higurashi N, Kawame H, Kaname T, Yanagi K, Nonaka Y, Hirotsu T, Matsushima S, Shimizu T, Gomi T, Fukasawa N
- Journal Title
  
  Radiol Case Rep
  
  Volume: 17 Issue: 3 Pages: 771-774
- DOI
  10.1016/j.radcr.2021.11.066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07780
[Journal Article] ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor2021
- Author(s)
  Kanamaru Yuri、Uchiyama Toru、Kaname Tadashi、Yanagi Kumiko、Ohara Osamu、Kunishima Shinji、Ishiguro Akira
- Journal Title
  
  International Journal of Hematology
  
  Volume: - Issue: 2 Pages: 297-300
- DOI
  10.1007/s12185-021-03136-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08312, KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing2021
- Author(s)
  Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saistu T
- Journal Title
  
  Clin Genet
  
  Volume: 100 Issue: 1 Pages: 40-50
- DOI
  10.1111/cge.13951
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K09916
[Journal Article] Successful kidney transplantation in a patient with neonatal-onset ILNEB2021
- Author(s)
  Okamoto T, Nakamura A, Hayashi A, Yamaguchi T, Ogawa Y, Natsuga K, Yanagi K, Hotta K
- Journal Title
  
  Pediatr Transplant
  
  Volume: 25 Issue: 5
- DOI
  10.1111/petr.13971
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND12021
- Author(s)
  Yanagi K, Morimoto N, Iso M, Abe Y, Okamura K, Nakamura T, Matsubara Y, Kaname T
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 10 Pages: 1029-1034
- DOI
  10.1038/s10038-021-00915-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-20K09743
[Journal Article] Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 152021
- Author(s)
  Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 185 Issue: 10 Pages: 3092-3098
- DOI
  10.1002/ajmg.a.62371
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873
[Journal Article] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease2021
- Author(s)
  Yamamoto-Shimojima Keiko、Akagawa Hiroyuki、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Yamamoto Toshiyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1 Pages: 14-14
- DOI
  10.1038/s41439-021-00144-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873
[Journal Article] X-linked mental retardation and severe short stature with a novel mutation of the <i>KDM5C</i> gene2021
- Author(s)
  Kawano-Matsuda F, Maeda T, Kaname T, Yanagi K, Ihara K
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 30 Issue: 1 Pages: 61-64
- DOI
  10.1297/cpe.30.61
- NAID
  130007966051
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] HECW2-related disorder in four Japanese patients2021
- Author(s)
  Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T
- Journal Title
  
  Am Med Genet A
  
  Volume: 185 Issue: 10 Pages: 2895-2902
- DOI
  10.1002/ajmg.a.62363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-19H03652
[Journal Article] Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation2021
- Author(s)
  Kirikae H, Uematsu M, Numata-Uematsu Y, Saijo N, Katata Y, Oikawa Y, Kikuchi A, Yanagi K, Kaname T, Haginoya K, Kure S
- Journal Title
  
  Brain Dev
  
  Volume: 44 Issue: 2 Pages: 148-152
- DOI
  10.1016/j.braindev.2021.09.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] Four pedigrees with aminoacyl-tRNA synthetase abnormalities2021
- Author(s)
  Okamoto Nobuhiko、Miya Fuyuki、Tsunoda Tatsuhiko、Kanemura Yonehiro、Saitoh Shinji、Kato Mitsuhiro、Yanagi Kumiko、Kaname Tadashi、Kosaki Kenjiro
- Journal Title
  
  Neurological Sciences
  
  Volume: 43 Issue: 4 Pages: 2765-2774
- DOI
  10.1007/s10072-021-05626-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K09916
[Journal Article] <i>NT5E</i> Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia2020
- Author(s)
  Azuma N, Uchida T, Kikuchi S, Sadahiro M, Shintani T, Yanagi K, Higashita R, Yamashita A, Makita Y, Kaname T.
- Journal Title
  
  Circ J
  
  Volume: 84 Issue: 7 Pages: 1183-1188
- DOI
  10.1253/circj.CJ-20-0153
- NAID
  130007864270
- ISSN
  1346-9843, 1347-4820
- Year and Date
  2020-06-25
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K16380
[Journal Article] Severe gastrointestinal symptoms caused by a novel DDX3X variant2020
- Author(s)
  Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T
- Journal Title
  
  Eur J Med Genet
  
  Volume: 63 Issue: 12 Pages: 104058-104058
- DOI
  10.1016/j.ejmg.2020.104058
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase2020
- Author(s)
  Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T
- Journal Title
  
  Mol Genet Metab Rep
  
  Volume: 25 Pages: 100692-100692
- DOI
  10.1016/j.ymgmr.2020.100692
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.2020
- Author(s)
  Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K.
- Journal Title
  
  Hum Genome Var
  
  Volume: - Issue: 1 Pages: 11-11
- DOI
  10.1038/s41439-020-0098-y
- NAID
  120006892751
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[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] 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] 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] 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] 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 Research and Treatment
  
  Volume: (submitted)
- 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] 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] 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 Research and Treatment
  
  Volume: submitted
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21590362
[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] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome.2005
- Author(s)
  Yanagi et al.
- Journal Title
  
  Ryukyu Medical Journal 23
  
  Pages: 143-148
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome2005
- Author(s)
  Yanagi 他
- Journal Title
  
  Ryukyu Med.J. (In press)
- Data Source
  KAKENHI-PROJECT-16012251
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome.2005
- Author(s)
  Yanagi et al.
- Journal Title
  
  Ryukyu Med.J. 23
  
  Pages: 143-148
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome.2005
- Author(s)
  Yanagi他
- Journal Title
  
  Ryukyu.Med.J. 23
  
  Pages: 143-148
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi他
- Journal Title
  
  Congenit.Anom. 44
  
  Pages: 137-141
- NAID
  130008071957
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi et al.
- Journal Title
  
  Congenit.Anom. 44
  
  Pages: 137-141
- NAID
  130008071957
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi他
- Journal Title
  
  Congenit.Anom. 44・3
  
  Pages: 137-141
- NAID
  130008071957
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi 他
- Journal Title
  
  Congenit.Anom. 44・3
  
  Pages: 137-141
- NAID
  130008071957
- Data Source
  KAKENHI-PROJECT-16012251
[Presentation] Whole genome sequencing resolved a whole exome negative patient with congenital ichthyosis and severe atopic dermatitis2022
- Author(s)
  Kumiko Yanagi, Miori Sato, Tomomi Hidai, Makiko Omata, Kazuhito Satou, Masahiko Yamamori, Arisa Igarashi, Taiga Aoki, Takaya Iida, Masato Kantake, Yosuke Baba, Kazuki Miyabayashi, Ichiro Nomura, Ryo Tanaka, Kazue Yoshida, Yukihiro Ohya, Yoichi Matsubara, Tadashi Kaname
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] An aberrantly spliced FGFR2 transcript variant identified in the patient with craniosynostosis syndrome2022
- Author(s)
  Kumiko Yanagi, Arisa Igarashi, Tomomi Hidai, Taiga Aoki, Yasuyuki Fikuhara, Tadashi Kaname
- Organizer
  2022日本分子生物学会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] Two novel variants in POLA1 and BC1D8B identified in a Japanese patient with failure to thrive, mild intellectual delay, skin pigmentation and renal failure2022
- Author(s)
  Kumiko Yanagi, Yasutsugu Chinen, Kazuhito Satou, Arisa Igarashi, Kenji Naritomi, Koichi Nakanishi, Yoichi Matsubara, Tadashi Kaname
- Organizer
  The European Society of Human Genetics 2022
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] Long-read whole-genome sequencing with phasing analysis reveals the cause of a suspected family with Joubert syndrome.2021
- Author(s)
  Kumiko Yanagi, Jonathan Coker, Kaori Miyana, Makiko Omata, Tomomi Hidai, Arisa Igarashi, Kazuhito Sato, Adam Richman, Suneel Indupuru, Yoichi Matsubara, Hemant Thapar, Tadashi Kaname.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants2021
- Author(s)
  Kumiko Yanagi, Eriko Nishi, Arisa Igarashi, Maki Omata, Yukimi Abe, Nana Kobayashi, Kazuhito Satou, Kanako Ishii, Nobuhiko Okamoto, Yoichi Matsubara, Tadashi Kaname
- Organizer
  European Society of Human Genetics
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] A Japanese girl with a novel variant of PIK3R1 showed deterioration of insulin resistance to biguanide treatment.2020
- Author(s)
  Kumiko Yanagi, Suzuka Toguchi, Kazuhito Sato, Madoka Inoue, Kenji Naritomi, Yoichi Matsubara, Tadashi Kaname
- Organizer
  European Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] A novel variant within the G4 box of GNAI3, one of the catalytic domains of guanine nucleotide-binding, in a Japanese patient with Auriculocondylar syndrome 12020
- Author(s)
  Kumiko Yanagi, Noriko Morimoto, Nana Kobayashi, Yukimi Abe, Yoichi Matsubara, Tadashi Kaname
- Organizer
  American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] A novel missense variant located within in GTP binding motif of GNAI32020
- Author(s)
  柳　久美子、守本倫子、磯まなみ、五十嵐ありさ、松原洋一、要　匡
- Organizer
  第43回日本分子生物学会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] JIP3をコードするMAPK8IP3のrecurrent de novo variantsは痙性麻痺、指摘障害、脳梁低形成を起こす2020
- Author(s)
  菊池敦夫、岩澤伸哉、柳久美子、小林康子、荻野谷和裕、松本浩、黒澤健司、落合正行、酒井康成、三宅紀子、新堀哲也、松本直通、要匡、青木洋子、東海林亙、呉繁夫
- Organizer
  第27回日本遺伝子診療学会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] Recognizable morphological characteristics of mandibular jaw distinguishing ARCND1 from other micrognathism Auriculocondylar2020
- Author(s)
  柳　久美子、守本倫子、松原洋一、要　匡
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-20K09916
[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] 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
- 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] 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] 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] 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] 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
- 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
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- 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] 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] 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] Aarskog-Scott症候群患児における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55回大会
- Place of Presentation
  幕張メッセ(千葉)
- Data Source
  KAKENHI-PROJECT-21590362
[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] 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）
- 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] 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）
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Aarskog-Scott症候群患児における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)
- Data Source
  KAKENHI-PROJECT-21590362
[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
- 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-21591329
[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)
- Data Source
  KAKENHI-PROJECT-21591329
[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] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  K Yanagi
- Organizer
  第34回日本分子生物学会
- Place of Presentation
  パシフィコ横浜(神奈川)
- Data Source
  KAKENHI-PROJECT-21590362
[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] 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)
- Data Source
  KAKENHI-PROJECT-21590362
[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] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis2010
- Author(s)
  K Yanagi
- Organizer
  American Society of Human Genetics(ASHG) 60th Annual Meeting
- Place of Presentation
  Washington, DC, United States
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 高精度融解曲線法を用いた自閉症スペクトラム感受性遺伝子のスキャンニング2010
- Author(s)
  柳久美子
- 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] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis2010
- Author(s)
  Yanagi, Kumiko
- Organizer
  60th the American Society of Human Genetics Annual meeting
- Place of Presentation
  Washington Convention Center, Washington DC (USA)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis.2010
- Author(s)
  Kumiko Yanagi
- Organizer
  American Society of Human Genetics (ASHG)60th Annual Meeting
- Place of Presentation
  Washington, DC, United States
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 高精度融解曲線法を用いた自閉症スペクトラム感受性遺伝子のスキャンニング2010
- Author(s)
  柳久美子
- 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] 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
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  品川プリンスホテル(東京)
- 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] 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] LightCycler 480システムを用いた高精度融解曲線分析法によるFGD1遺伝子全エクソンに対するジェノタイプ分析系の確立2008
- Author(s)
  柳久美子, 他
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  横浜(パシフイコ横浜)
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] Comparison of DNA dyes, SYTO9, LCGreen Plus and EvaGreen and Investigation of Amplicon Length for DNA Amplification for High-Resolution Melting Analysis using LightCycler[○! R]480 System2008
- Author(s)
  Yanagi, et al.
- Organizer
  The 8th Annual Meeting of the East Asian Union of Human Genetics Societies (EAUHGS)
- Place of Presentation
  Sapporo(大学共同利用施設ACU)
- Year and Date
  2008-07-19
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] Comparison of DNA dyes, SYTO9, LCGreen Plus and EvaGreen and Investigation of Amplicon Length for DNA Amplification for High-Resolution Melting Analysis using LightCycler[○! R]480 System2008
- Author(s)
  Yanagi, et al.
- Organizer
  58th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Philadelphia, USA
- Data Source
  KAKENHI-PROJECT-19659267

1. KANAME Tadashi (40264288)

# of Collaborated Projects: 10 results

# of Collaborated Products: 51 results
2. NARITOMI Kennji (20101446)

# of Collaborated Projects: 7 results

# of Collaborated Products: 26 results
3. HANEJI Norio (30274228)

# of Collaborated Projects: 4 results

# of Collaborated Products: 0 results
4. HAYASHI Yoshio (00127854)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
5. MORIMOTO NORIKO (40286555)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 石丸直澄 (60314879)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 中村隆範 (70183887)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 浜野弘規 (10238074)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 斎藤一郎 (60147634)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 石谷太 (40448428)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 五十嵐ありさ (60572998)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. OOTA Hiroki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 内山徹

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. 宮冬樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. 加藤洋一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. 石田肇

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Yanagi Kumiko 柳 久美子

YANAGI Kumiko 柳 久美子

YANAGAI Kumiko 柳 久美子

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Development of a pipeline for whole genome sequencing dedicated to craniofacial diseasesPrincipal Investigator

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Pathogenesis of phenotypic heterogeneity in MAP3K7 related disordersPrincipal Investigator

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High-throughput screening system for genes associated with autism spectrum disorderPrincipal Investigator

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シェーグレン症候群における唾液腺特異的自己抗原エピトープの同定とその臨床応用Principal Investigator

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Yanagi Kumiko 柳久美子

YANAGI Kumiko 柳久美子

YANAGAI Kumiko 柳久美子