KANAME Tadashi 要匡

Researcher Number	40264288
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, 部長
Affiliation (based on the past Project Information) *help	2016 – 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, 部長 2015: 国立研究開発法人国立成育医療研究センター, その他部局等, その他 2015: 国立成育医療研究センター, ゲノム医療研究部, 部長 2013 – 2015: 琉球大学, 医学(系)研究科(研究院), 准教授 2013: 琉球大学, 大学院医学研究科, 准教授 … More 2011: 琉球大学, 大学院・医学研究科, 准教授 2010 – 2011: 琉球大学, 医学研究科, 准教授 2009: 国立大学法人琉球大学, 医学部・医科遺伝学分野, 准教授 2007 – 2009: 琉球大学, 医学部, 准教授 2003 – 2006: 琉球大学, 医学部, 助教授 1998: 熊本大, 医学部, 助手 1994 – 1997: Kumamoto University School of Medicine, 医学部, 助手 Less
Review Section/Research Field	Principal Investigator Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medical genome science / Pediatrics / Biological Sciences / Molecular biology Except Principal Investigator Pediatrics / Basic Section 57020:Oral pathobiological science-related / Otorhinolaryngology / Basic Section 42040:Laboratory animal science-related … More / Basic Section 56050:Otorhinolaryngology-related / Cardiovascular medicine / Basic Section 48010:Anatomy-related / Plastic surgery / Health science and related fields / Laboratory animal science / Human genetics Less
Keywords	Principal Investigator DT40 / BAC / position effect / gene therapy / site specific recombination / chromosome X / human artificial chromosomes / 遺伝子治療 / 次世代シーケンサ / 遺伝子 … More / ヒト人工染色体 / Cre / 迅速診断 / 新生児マス・スクリーニング / 解析迅速化 / 新生児ゲノムスクリーニング / 先天代謝異常 / 心伝導障害 / パネル解析 / 病的バリアント / NGS / FPGA / 遺伝子パネル解析 / 網羅的遺伝子解析 / 新生児スクリーニング / 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 / ターゲットリシーケンス / 遺伝子パネル / 全エクソーム解析 / ターゲットリシーケンス解析 / 頭蓋骨早期癒合 / マイクロアレイ / 次世代シーケンサー / ゲノム / 奇形症候群 / 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 / トランスジェニックマウス / 人工酵母染色体(YAC) … More Except Principal Investigator BAC / YAC / 発生 / トランスジェニックマウス / 次世代シークエンサー / 次世代シーケンサ / エクソーム解析 / ゲノム解析 / ポジショナルクローニング / transgenic mouse / 難聴遺伝子 / 沖縄 / 奇形症候群 / 機能獲得方変異 / 白血病 / 遺伝子変異 / マイクロRNA / 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) / 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 / 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 / 多様性 / 心血管死 / 血管内皮機能不全 / 代謝症候群 / 性差 / 亜硝酸塩 / 硝酸塩 / 脳梗塞 / 心筋梗塞 / マウス / 一酸化窒素合成酵素 / 一酸化窒素 / 神経堤細胞 / 頭蓋顎顔面 / 先天性疾患 / 疾患モデルマウス / スプライシング因子 / スプライソソーム症 / Pladienolide B / Pladienolide-B / Sf3b1 / Sf3b4 / スプライソソーム / スプライシング / Nager症候群 / エピジェネティクス / 遺伝子発現パターン / 遺伝子発現プロファイル / 遺伝子発現 / iPS / 骨芽細胞分化 / 骨芽細胞 / iPS細胞 / 頭蓋縫合早期癒合症 / 発毛異常 / 劣性遺伝 / 潜性遺伝 / 潜性（劣性）遺伝 / pocy / 自然発生突然変異マウス / 多血症 / 全エクソーム解析 / 難聴 / 全エクソンシークエンス / ターゲットリシークエンス / 次世代シークエンス / 次世代シークエンス解析 / パネル解析 / 知的障害原因 / 臨床エクソーム解析 / 遺伝カウンセリング / 疾患パネル解析 / マイクロアレイ染色体検査 / 知的障害 / positional cloning / development / mutant mouse / 胚発生 / ボンショナルクローニング / 変異マウス / Mutant / Positional cloning / Development / Transgenic mouse / tコンプレックス / T / 突然変異 / 形態形成 / 突然変異体 / yeast artificial chromosome / ES cell / gene trap / homologous recombination / Gene targeting / 疾患モデル / キメラマウス / 相同遺伝子組換え / 標的遺伝子組換え / 遺伝病 / 人口酵母染色体 / ES細胞 / 遺伝子トラップ / 相同組換え / 標的組換え / 遺伝子解析 / 遺伝性難聴 / 高精度融解曲線分析法 / 遺伝子 / 診断用ソフトウェア / 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 / 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 Less

Development of a pipeline for whole genome sequencing dedicated to craniofacial diseases
- 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
マイクロRNA miR-142の機能獲得型変異による白血病発症メカニズムの解明
- Principal Investigator
  
  荒木喜美
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 42040:Laboratory animal science-related
- Research Institution
  Kumamoto University
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 disorders
- 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
Developmental etiology of craniofacial abnormalities in Nager syndrome
- Principal Investigator
  
  Takechi Masaski
- Project Period (FY)
  2018 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 48010:Anatomy-related
- Research Institution
  Juntendo University
  Tokyo Medical and Dental University
Development of a newborn ultra-rapid genome screening system beyond newborn mass screeningPrincipal Investigator
- Principal Investigator
  
  Kaname Tadashi
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Center for Child Health and Development
An effective diagnostic strategy for deaf patients in Okinawa Islands using a next-generation sequencing and exome sequencing.
- Principal Investigator
  
  GANAHA AKIRA
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  University of Miyazaki
  University of the Ryukyus
Analysis of spontaneous polycythemia model mouse "pocy" showing recessive inheritance.
- Principal Investigator
  
  Araki Masatake
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Research Field
  
  Health science and related fields
- Research Institution
  Kumamoto University
Classification and pathological elucidation of Craniosynostosis by the differentiation's pattern of iPS cells
- Principal Investigator
  
  Iseki Sachiko
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Plastic surgery
- Research Institution
  Tokyo Medical and Dental University
Elucidation of the biological diversity of the nitric oxide synthases system
- Principal Investigator
  
  TSUTSUI MASATO
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Cardiovascular medicine
- Research Institution
  University of the Ryukyus
Establishment of next-generation comprehensive diagnostic system for patients with craniosynostosis and search for therapeutic targetsPrincipal Investigator
- Principal Investigator
  
  Kaname Tadashi
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Medical genome science
- Research Institution
  National Center for Child Health and Development
  University of the Ryukyus
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
Conprehensive analysis of deafness genes in families in Okinawa islands
- Principal Investigator
  
  GANAHA AKIRA
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  University of the Ryukyus
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 disorder
- Principal Investigator
  
  YANAGI Kumiko
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  University of the Ryukyus
Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.Principal Investigator
- 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
- 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
- Principal Investigator
  
  要匡
- 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
- 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
巨大DNA導入によるマウス人工染色体の開発Principal Investigator
- Principal Investigator
  
  要匡
- Project Period (FY)
  1997 – 1998
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Molecular biology
- Research Institution
  Kumamoto University
Identification of genes responsible for developmental mutant mice
- Principal Investigator
  
  YAMAMURA Ken-ichi
- Project Period (FY)
  1997 – 1998
- Research Category
  
  Grant-in-Aid for international Scientific Research
- Research Field
  
  Laboratory animal science
- Research Institution
  KUMAMOTO UNIVERSITY
IDENTIFICATION OF DEVELOPMENTAL CONTROL GENES USING YAC TRANSGENIC MICE
- Principal Investigator
  
  YAMAMURA Ken-ichi
- Project Period (FY)
  1995 – 1996
- Research Category
  
  Grant-in-Aid for international Scientific Research
- Research Institution
  KUMAMOTO UNIVERSITY
Production of mouse models for human diseases by gene targeting
- Principal Investigator
  
  YAMAMURA Ken-ichi
- Project Period (FY)
  1992 – 1994
- Research Category
  
  Grant-in-Aid for international Scientific Research
- Research Institution
  Institute of Molecular Embryology and Genetics Kumamoto University School of Medicine

[Book] 子どもの病気　遺伝について聞かれたら2015
- Author(s)
  要　匡
- Total Pages
  260
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-26430194
[Book] Osteosarcoma and midkine. 'Midkine : From embryogenesis to pathogenesis and medication'2012
- Author(s)
  T Kaname
- Total Pages
  380
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-21591329
[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] Encyclopedia of Genetics 2^<nd> edn2012
- Author(s)
  Kaname T. Female carrier.
- Publisher
  Elsevier(in press)
- Data Source
  KAKENHI-PROJECT-21591329
[Book] Inversion 'Encyclopedia of Genetics 2nd edn'2012
- Author(s)
  T Kaname
- Publisher
  Elsevier(印刷中)
- Data Source
  KAKENHI-PROJECT-21591329
[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
[Book] Encyclopedia of Genetics 2^<nd> edn2012
- Author(s)
  Kaname T. Inversion
- Publisher
  Elsevier(in press)
- Data Source
  KAKENHI-PROJECT-21591329
[Book] Female carrier 'Encyclopedia of Genetics 2nd edn'2012
- Author(s)
  T Kaname
- Publisher
  Elsevier(印刷中)
- Data Source
  KAKENHI-PROJECT-21591329
[Book] Osteosarcoma and midkine. Midkine : From embryogenesis to pathogenesis and medication2012
- Author(s)
  T Kaname
- Total Pages
  380
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-21590362
[Book] オピッツC症候群「症候群ハンドブック」2011
- Author(s)
  要匡
- Total Pages
  666
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-21591329
[Book] 症候群ハンドブック (オピッツC症候群)2011
- Author(s)
  要匡
- Publisher
  中山書店(印刷中)
- Data Source
  KAKENHI-PROJECT-21591329
[Book] ゆるやかなゲノムのはなし「知の津梁やわらかい南の学徒思想3」2010
- Author(s)
  要匡
- Publisher
  沖縄タイムス出版
- Data Source
  KAKENHI-PROJECT-21591329
[Book] 小児科診療 2009年増刊号「小児の症候群」 Opitz症候群2009
- Author(s)
  要匡
- Total Pages
  511
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-19659267
[Journal Article] A gain‐of‐function mutation in microRNA-142 is sufficient to cause the development of T‐cell leukemia in mice.2023
- Author(s)
  Kawano Shingo、Araki Kimi、Bai Jie、Furukawa Imari、Tateishi Keigo、Yoshinobu Kumiko、Usuki Shingo、Nimmo Rachael A.、Kaname Tadashi、Yoshihara Masaharu、Takahashi Satoru、Sashida Goro、Araki Masatake
- Journal Title
  
  Cancer Science
  
  Volume: - Issue: 7 Pages: 2821-2834
- DOI
  10.1111/cas.15794
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K05999, KAKENHI-PROJECT-23K21285, KAKENHI-PROJECT-22H04922, KAKENHI-PROJECT-21H02952
[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] A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation2021
- Author(s)
  Ueda Yuki、Suganuma Takashi、Narumi-Kishimoto Yoko、Kaname Tadashi、Sato Tomonobu
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 1 Pages: 135-139
- DOI
  10.1016/j.braindev.2020.08.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] HECW2-related disorder in four Japanese patients2021
- Author(s)
  Yanagishita T, Hirade T, Yamamoto-Shimojima 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 J Med Genet A
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[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] Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021
- Author(s)
  Chowdhury F, Wang L, Kaname T（17番目）
- Journal Title
  
  Genetics in Medicine
  
  Volume: - Issue: 7 Pages: 1234-1245
- DOI
  10.1038/s41436-021-01129-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-21H02463
[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] IQSEC2遺伝子の新規突然変異による発達性てんかん性脳症の男児例2021
- Author(s)
  田中亮介、黒田真実、竹口諒、福村忍、要匡、高橋悟
- Journal Title
  
  脳と発達
  
  Volume: 53 Pages: 129-132
- NAID
  130008028469
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[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] CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.2021
- Author(s)
  Zarate YA, Uehara T, Kaname T, Ishitani T, Kosaki K. et. al.
- Journal Title
  
  Genet Med.
  
  Volume: - Issue: 6 Pages: 1050-1057
- DOI
  10.1038/s41436-020-01091-9
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-20K21502, KAKENHI-PROJECT-19H03412, KAKENHI-PUBLICLY-20H05365
[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] Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia2021
- Author(s)
  Nomura Shohei、Kashiwagi Mitsuru、Tanabe Takuya、Oba Chizu、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Ashida Akira
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 4 Pages: 566-570
- DOI
  10.1016/j.braindev.2020.12.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Autoimmune hemolytic anemia associated with Takenouchi-Kosaki syndrome2021
- Author(s)
  Ishikawa K, Uchiyama T, Kaname T, Kawai T, Ishiguro A
- Journal Title
  
  Pediatr Int,in press
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[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] RASA1 遺伝子の新規変異が見いだされた遺伝性出血性毛細血管拡張症2021
- Author(s)
  平井宏子、仲岡英幸、伊吹圭二郎、小澤　綾佳、本間崇浩、橋本郁夫、岡部敬、市田蕗子、要匡、廣野恵一
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 125 Pages: 37-41
- NAID
  40022468261
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] 小児希少疾患における網羅的遺伝子解析法の活用2021
- Author(s)
  要匡
- Journal Title
  
  周産期医学
  
  Volume: 51 Pages: 715-718
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] 希少疾患のゲノム医療の社会実装；ナショナルセンターにおける取組み2021
- Author(s)
  要匡、後藤雄一
- Journal Title
  
  臨床病理レビュー
  
  Volume: 165 Pages: 2-7
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.2021
- 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: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis2021
- Author(s)
  Nishida Tomoya、Nakano Kazuhisa、Inoue Yoshino、Narumi-Kishimoto Yoko、Kaname Tadashi、Akashi Koichi、Tanaka Yoshiya
- Journal Title
  
  Intern. Med.
  
  Volume: 60 Issue: 7 Pages: 1109-1114
- DOI
  10.2169/internalmedicine.5305-20
- NAID
  130008014359
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2021-04-01
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder2021
- Author(s)
  Iwafuchi Sota、Kikuchi Atsuo、Endo Wakaba、Inui Takehiko、Aihara Yu、Satou Kazuhito、Kaname Tadashi、Kure Shigeo
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 2 Pages: 303-307
- DOI
  10.1016/j.braindev.2020.09.015
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.2020
- Author(s)
  Kaname T.
- Journal Title
  
  J Hum Genet
  
  Volume: 65 Issue: 7 Pages: 589-590
- DOI
  10.1038/s10038-020-0767-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] IRUD(Initiative on Rare and Undiagnosed Diseases)による希少疾患の遺伝学的解析の成果2020
- Author(s)
  要匡
- Journal Title
  
  小児科臨床
  
  Volume: 73 Pages: 551-554
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] POLR3A variants in striatal involvement without diffuse hypomyelination2020
- Author(s)
  Hiraide Takuya、Kubota Kazuo、Kono Yu、Watanabe Seiji、Matsubayashi Tomoko、Nakashima Mitsuko、Kaname Tadashi、Fukao Toshiyuki、Shimozawa Nobuyuki、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 4 Pages: 363-368
- DOI
  10.1016/j.braindev.2019.12.012
- NAID
  120007038334
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-20H03641
[Journal Article] An extremely severe case of Aicardi-Gouti?res syndrome 7 with a novel variant in IFIH12020
- Author(s)
  Amari Shoichiro、Tsukamoto Keiko、Ishiguro Akira、Yanagi Kumiko、Kaname Tadashi、Ito Yushi
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Issue: 2 Pages: 103646-103646
- DOI
  10.1016/j.ejmg.2019.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] A case report of rare ZC4H2 ‐associated disorders associated with three large hernias2020
- Author(s)
  Nagara Syunsuke、Fukaya Satoko、Muramatsu Yukako、Kaname Tadashi、Tanaka Taihei
- Journal Title
  
  Pediatrics International
  
  Volume: 62 Issue: 8 Pages: 985-986
- DOI
  10.1111/ped.14211
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[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] 〔医療と人工知能の接点〕希少疾患診断とAI2020
- Author(s)
  要匡
- Journal Title
  
  JOHNS
  
  Volume: 36 Pages: 1602-1605
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration2020
- Author(s)
  Kawaguchi Masahiro、Sassa Takayuki、Kidokoro Hiroyuki、Nakata Tomohiko、Kato Kohji、Muramatsu Hideki、Okuno Yusuke、Yamamoto Hiroyuki、Kaname Tadashi、Kihara Akio、Natsume Jun
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 2 Pages: 217-221
- DOI
  10.1016/j.braindev.2019.11.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-19K07060, KAKENHI-PROJECT-17K10075
[Journal Article] Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.2020
- Author(s)
  Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T.
- Journal Title
  
  Epileptic Disord
  
  Volume: 22 Issue: 4 Pages: 501-505
- DOI
  10.1684/epd.2020.1187
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] A severe case of status dystonicus caused by a de novo KMT2B missense mutation2020
- Author(s)
  Nakamura Sadao、Chinen Yasutsugu、Satou Kazuhito、Tokashiki Takashi、Kumada Satoko、Yanagi Kumiko、Kaname Tadashi、Naritomi Kenji、Nakanishi Koichi
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Issue: 11 Pages: 104057-104057
- DOI
  10.1016/j.ejmg.2020.104057
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome2020
- Author(s)
  Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Kuroki Y, Kurosawa K. et al.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 182 Issue: 10 Pages: 2333-2344
- DOI
  10.1002/ajmg.a.61793
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07873, 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] KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes2019
- Author(s)
  Ushijima Kikumi、Narumi Satoshi、Ogata Tsutomu、Yokota Ichiro、Sugihara Shigetaka、Kaname Tadashi、Horikawa Yukio、Matsubara Yoichi、Fukami Maki、Kawamura Tomoyuki、The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes
- Journal Title
  
  Pediatric Diabetes
  
  Volume: 20 Pages: 712-719
- DOI
  10.1111/pedi.12868
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-18H02779
[Journal Article] A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation2019
- Author(s)
  Chinen Yasutsugu、Nakamura Sadao、Kaneshi Takuya、Nakayashiro Mami、Yanagi Kumiko、Kaname Tadashi、Naritomi Kenji、Nakanishi Koichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 23-23
- DOI
  10.1038/s41439-019-0053-y
- NAID
  120006845622
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes2019
- Author(s)
  Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
- Journal Title
  
  Annals of Neurology
  
  Volume: － Issue: 6 Pages: 927-933
- DOI
  10.1002/ana.25481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19281, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-17H01539
[Journal Article] Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy2019
- Author(s)
  Yamamoto Kenichi、Kubota Takuo、Takeyari Shinji、Kitaoka Taichi、Miyata Kei、Nakano Yukako、Nakayama Hirofumi、Ohata Yasuhisa、Yanagi Kumiko、Kaname Tadashi、Okada Yukinori、Ozono Keiichi
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 182 Issue: 3 Pages: 454-460
- DOI
  10.1002/ajmg.a.61422
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K15708
[Journal Article] Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant2019
- Author(s)
  Ganaha Akira、Kaname Tadashi、Yanagi Kumiko、Tono Tetsuya、Higa Teruyuki、Suzuki Mikio
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 37-37
- DOI
  10.1038/s41439-019-0068-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11334, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K11337
[Journal Article] Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures2019
- Author(s)
  Nakashima Mitsuko、Tohyama Jun、Nakagawa Eiji、Watanabe Yoshihiro、Siew Ch’ng Gaik、Kwong Chieng Siik、Yamoto Kaori、Hiraide Takuya、Fukuda Tokiko、Kaname Tadashi、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 4 Pages: 313-322
- DOI
  10.1038/s10038-018-0559-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204
[Journal Article] Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP12019
- Author(s)
  Yamamoto-Shimojima Keiko、Imaizumi Taichi、Aoki Yusuke、Inoue Ken、Kaname Tadashi、Okuno Yusuke、Muramatsu Hideki、Kato Kohji、Yamamoto Toshiyuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 未定 Issue: 7 Pages: 665-671
- DOI
  10.1038/s10038-019-0600-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] The CFTR gene variants in Japanese children with idiopathic pancreatitis2019
- Author(s)
  Iso Manami、Suzuki Mitsuyoshi、Yanagi Kumiko、Minowa Kei、Sakurai Yumiko、Nakano Satoshi、Satou Kazuhito、Shimizu Toshiaki、Kaname Tadashi
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 17-17
- DOI
  10.1038/s41439-019-0049-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-16K19668
[Journal Article] Normal early development in siblings with novel compound heterozygous variants in ASPM2019
- Author(s)
  Moriwaki Taro、Yamazaki Narutoshi、So Tetsumin、Kosuga Motomichi、Miyazaki Osamu、Narumi-Kishimoto Yoko、Kaname Tadashi、Nishimura Gen、Okuyama Torayuki、Fukuhara Yasuyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 56-56
- DOI
  10.1038/s41439-019-0088-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] A novel mutation in the GATAD2B gene associated with severe intellectual disability2019
- Author(s)
  Ueda Kimiko、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 3 Pages: 276-279
- DOI
  10.1016/j.braindev.2018.10.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-15K01792
[Journal Article] Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome2018
- Author(s)
  Narumi-Kishimoto Yoko、Araki Naomi、Migita Ohsuke、Kawai Tomoko、Okamura Kohji、Nakabayashi Kazuhiko、Kaname Tadashi、Ozawa Yuri、Ozawa Hiroshi、Takada Fumio、Hata Kenichiro
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: in press Issue: 9 Pages: 1-1
- DOI
  10.1016/j.ejmg.2018.09.014
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-16K07137
[Journal Article] Genitopatellar syndrome: the first reported case in Japan2018
- Author(s)
  Okano Satomi、Miyamoto Akie、Fukuda Ikue、Tanaka Hajime、Hata Kenichiro、Kaname Tadashi、Matsubara Yoichi、Makita Yoshio
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 8-8
- DOI
  10.1038/s41439-018-0010-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D2018
- Author(s)
  Takeyari Shinji、Kubota Takuo、Miyata Kei、Yamamoto Kenichi、Nakayama Hirofumi、Yamamoto Keiko、Ohata Yasuhisa、Kitaoka Taichi、Yanagi Kumiko、Kaname Tadashi、Ozono Keiichi
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 176 Issue: 12 Pages: 2882-2886
- DOI
  10.1002/ajmg.a.40643
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders2018
- Author(s)
  Mizuguchi Takeshi、Kurahashi Hirokazu、et al.
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 27 Issue: 8 Pages: 1421-1433
- DOI
  10.1093/hmg/ddy052
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism2018
- Author(s)
  Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Genetics
  
  Volume: 137 Issue: 1 Pages: 95-104
- DOI
  10.1007/s00439-017-1863-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204
[Journal Article] An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome2018
- Author(s)
  Katoh-Fukui Yuko、Yatsuga Shuichi、Shima Hirohito、Hattori Atsushi、Nakamura Akie、Okamura Kohji、Yanagi Kumiko、Iso Manami、Kaname Tadashi、Matsubara Yoichi、Fukami Maki
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 18006-18006
- DOI
  10.1038/hgv.2018.6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07137, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-15K06917, KAKENHI-PROJECT-18K06926, KAKENHI-PROJECT-18K07863
[Journal Article] MECP2 mutation in a boy with severe apnea and sick sinus syndrome2018
- Author(s)
  Shioda Tsutomu、Takahashi Satoru、Kaname Tadashi、Yamauchi Toyohiro、Fukuoka Tetsuya
- Journal Title
  
  Brain and Development
  
  Volume: 40 Issue: 8 Pages: 714-718
- DOI
  10.1016/j.braindev.2018.03.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863
[Journal Article] Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH12017
- Author(s)
  Ganaha A, Kaname T, Shinjou A, Chinen Y, Yanagi K, Higa T, Kondo S, Suzuki M.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 173 Issue: 10 Pages: 2826-2830
- DOI
  10.1002/ajmg.a.38411
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K11337
[Journal Article] A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin Siris-like syndrome2017
- Author(s)
  Kaname T, Yanagi K
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 印刷中 Issue: 8 Pages: 739-740
- DOI
  10.1038/jhg.2017.58
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.2017
- Author(s)
  Kina-Tanada M, Sakanashi M, Tanimoto A, Kaname T, Matsuzaki T, Noguchi K, Uchida T, Nakasone J, Kozuka C, Ishida M, Kubota H, Taira Y, Totsuka Y, Kina SI, Sunakawa H, Omura J, Satoh K, Shimokawa H, Yanagihara N, Maeda S, Ohya Y, Matsushita M, Masuzaki H, Arasaki A, Tsutsui M.
- Journal Title
  
  Diabetologia.
  
  Volume: 60 Issue: 6 Pages: 1138-1152
- DOI
  10.1007/s00125-017-4259-6
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H04816, KAKENHI-PROJECT-15H06519, KAKENHI-PROJECT-15K15046, KAKENHI-PROJECT-15K21251, KAKENHI-PROJECT-15K08238, KAKENHI-PROJECT-15K10644, KAKENHI-PROJECT-16K09519, KAKENHI-PROJECT-16H00594, KAKENHI-PROJECT-17K09839
[Journal Article] わが国および欧米における遺伝学的検査の現状2016
- Author(s)
  要匡、松原洋一
- Journal Title
  
  血液フロンティア
  
  Volume: 26 Pages: 937-943
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Opitz症候群2016
- Author(s)
  要匡
- Journal Title
  
  小児科診療
  
  Volume: 79 Pages: 50-50
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] 次世代シーケンサーによる先天異常診断2016
- Author(s)
  要匡　他
- Journal Title
  
  小児科診療
  
  Volume: 79 Pages: 1749-1754
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Holt-Oram症候群2016
- Author(s)
  要匡
- Journal Title
  
  小児科診療
  
  Volume: 79 Pages: 37-37
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Progressive hip joint subluxation in Saul-Wilson syndrome2015
- Author(s)
  Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167A Issue: 11 Pages: 2834-2838
- DOI
  10.1002/ajmg.a.37278
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism2015
- Author(s)
  Ganaha A, Kaname T, et al.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Issue: 1 Pages: 27-34
- DOI
  10.1038/jhg.2014.97
- NAID
  40020330154
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26430194, KAKENHI-PROJECT-25462649
[Journal Article] 鎖骨頭蓋形成不全症2014
- Author(s)
  要匡
- Journal Title
  
  日本臨床別冊　新領域別症候群シリーズ
  
  Volume: 29 Pages: 725-726
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Establishment of a primary hepatocyte culture from the small Indian mongoose (Herpestes auropunctatus) and distribution of mercury in liver tissue2014
- Author(s)
  Horai S, Yanagi K, Kaname T, Yamamoto M, Watanabe I, Ogura G, Abe S, Tanabe S, Furukawa T
- Journal Title
  
  Ecotoxicology
  
  Volume: 23 Issue: 9 Pages: 1681-9
- DOI
  10.1007/s10646-014-1307-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25430114, KAKENHI-PROJECT-26430194
[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] Aarskog-Scott症候群2014
- Author(s)
  要匡
- Journal Title
  
  日本臨床別冊　新領域別症候群シリーズ
  
  Volume: 29 Pages: 434-436
- Data Source
  KAKENHI-PROJECT-26430194
[Journal Article] Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.2014
- Author(s)
  Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura KI, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura KI, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.
- Journal Title
  
  Cellular Signaling
  
  Volume: 26 (11) Issue: 11 Pages: 2446-2459
- DOI
  10.1016/j.cellsig.2014.07.025
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26430194
[Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature2013
- Author(s)
  Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 6 Pages: 1221-1237
- DOI
  10.1002/ajmg.a.35933
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] 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] Bacterial delivery of large intact genomic-DNA-containing BACs into mammalian cells2012
- Author(s)
  Cheung W, Kotzamanis G, Abdulrazzak H, Goussard S, Kaname T, Kotsinas A, Gorgoulis VG, Grillot-Courvalin C, Huxley C.
- Journal Title
  
  Bioeng Bugs
  
  Volume: 3 Pages: 86-92
- URL
  http://dx.doi.org/10.4161/bbug.18621
- 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] A commentary on Implication of gene copy number variation in health and diseases2012
- Author(s)
  T Kaname
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 79-80
- NAID
  10030711384
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] A commentary on implication of gene copy number variation in health and diseases2012
- Author(s)
  Kaname T
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 79-80
- NAID
  10030711384
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012
- Author(s)
  Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
- Journal Title
  
  Nat Genet
  
  Volume: 44 Issue: 4 Pages: 376-378
- DOI
  10.1038/ng.2219
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
[Journal Article] The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan Populations.2012
- Author(s)
  Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K. Saitou N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 57巻 Issue: 12 Pages: 787-79
- DOI
  10.1038/jhg.2012.114
- NAID
  10031145887
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22370087, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-22687023, KAKENHI-PROJECT-23247040, KAKENHI-PROJECT-23510242, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23657167, KAKENHI-PROJECT-24370099, KAKENHI-PROJECT-24405017, KAKENHI-PROJECT-24790728
[Journal Article] MOC1 is essential for ocular and limb development in humans and mice2011
- Author(s)
  Okada I, Kaname T(28人中21番目) Saitsu H
- Journal Title
  
  Am J Hum Genet
  
  Volume: 88 Pages: 30-41
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011
- Author(s)
  Hannibal, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 115A(7) Issue: 7 Pages: 1511-1516
- DOI
  10.1002/ajmg.a.34074
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390100, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052
[Journal Article] DNA・遺伝子・染色体2010
- Author(s)
  要匡
- Journal Title
  
  日本医師会雑誌
  
  Volume: 139 Pages: 558-559
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] NDS1欠失の認められたSotos症候群16例の臨床的検討2010
- Author(s)
  當山真弓、當山潤、遠藤尚宏、竹谷徳雄、高良幸伸、要匡、成富研二
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 114 Pages: 48-52
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article]2010
- Author(s)
  要匡
- Journal Title
  
  知の津梁ゆるやかな南の学と思想3(沖縄タイムス出版)
  
  Pages: 340-351
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split-foot malformation and hearing loss2009
- Author(s)
  Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
- Journal Title
  
  Am J Med Genet
  
  Volume: 149A Pages: 1224-1230
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] holoprosencephaly sequence2009
- Author(s)
  要匡
- Journal Title
  
  小児科診療
  
  Volume: 72 Pages: 52-52
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Evolution of a patient with Bohring-Opitz syndrome2009
- Author(s)
  Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F
- Journal Title
  
  Am J Med Genet
  
  Volume: 149A Pages: 1754-1757
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Holt-Oram症候群2009
- Author(s)
  要匡
- Journal Title
  
  小児科診療
  
  Volume: 72 Pages: 53-53
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Opitz症候群(Opitz G/BBB症候群)2009
- Author(s)
  要匡
- Journal Title
  
  小児科診療
  
  Volume: 72 Pages: 69-69
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
- Author(s)
  Kuniba H, Kaname T, Naritomi K(19人中11, 12番目), Niikawa N
- Journal Title
  
  J Hum Genet
  
  Volume: 54 Pages: 304-309
- NAID
  10030730501
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome2007
- Author(s)
  Kaname, et. al.
- Journal Title
  
  American Journal of Human Genetics 81
  
  Pages: 835-841
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19659267
[Journal Article] Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGDI mutations.2006
- Author(s)
  Kaname et al.
- Journal Title
  
  American Journal of Medical Genetics 140A
  
  Pages: 1331-1332
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.2006
- Author(s)
  Kaname et al.
- Journal Title
  
  American Journal of Medical Genetics 140A
  
  Pages: 1331-1332
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Neurobehavioral disorders in patients with Aarskog- Scott syndrome affected by novel FGD1 mutations.2006
- Author(s)
  Kaname et al.
- Journal Title
  
  Am J Med Genet 140A
  
  Pages: 1331-1332
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Alphoid DNA from different chromosomes form de novo minichromosomes with high frequency.2005
- Author(s)
  Kaname et al.
- Journal Title
  
  Chromosome Res 13
  
  Pages: 411-422
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Alphoid DNA from different chromosomes forms de novo minichromosomes with high efficiency.2005
- Author(s)
  Kaname et al.
- Journal Title
  
  Chromosome Research 13
  
  Pages: 411-422
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Alphoid DNA from different chromosome forms de novo minichromosomes with high frequency.2005
- Author(s)
  Kaname et al.
- Journal Title
  
  Chromosome Research 13
  
  Pages: 411-422
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Alphoid DNA from different chromosomes froms de novo minichromosomes with high efficiency.
- Author(s)
  Kaname et al.
- Journal Title
  
  Chromosome Res. (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Alphoid from different chromosomes forms de novo minichromosomes with high efficiency.
- Author(s)
  Kaname他
- Journal Title
  
  Chromosome Res. In press
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Presentation] miRNA-142の機能獲得型点変異による白血病発症について2024
- Author(s)
  荒木正健　河野慎吾　吉信公美子　要　匡　吉原雅大　高橋智　白潔　指田吾郎　荒木喜美
- Organizer
  先端モデル動物支援プラットフォーム成果発表会
- Data Source
  KAKENHI-PROJECT-23K21285
[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] miR-142の機能獲得型変異による白血病発症メカニズムの解析2022
- Author(s)
  河野慎吾、白潔、指田吾郎、古河いまり、吉信公美子、北元優梨、高橋智、要匡、荒木喜美、荒木正健
- Organizer
  第69回日本実験動物学会総会
- Data Source
  KAKENHI-PROJECT-23K21285
[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] 小児遺伝が拓くゲノム医療2021
- Author(s)
  要　匡
- Organizer
  第43回日本小児遺伝学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[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] Recognizable morphological characteristics of mandibular jaw distinguishing ARCND1 from other micrognathism2020
- Author(s)
  Yanagi K, Morimoto N, Matsubara Y, Kaname T
- Organizer
  第65回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] AIを応用した希少・難病の診断支援システムの開発2020
- Author(s)
  要　匡、成富研二、松原洋一
- Organizer
  第123回日本小児科学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[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)
  Yanagi K, Morimoto N, Kobayashi M, Abe Y, Matsubara Y, Kaname T
- Organizer
  ASHG
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[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 KIAA0355 variant in a patient with intellectual disability and cerebellar atrophy2020
- Author(s)
  Okamoto N, Hasegawa Y, Nishi E, Shibukawa Y, Yanagi K, Kaname T
- Organizer
  ASHG
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[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] Japanese girl with a novel variant of PIK3R1 showed deterioration of insulin resistance to biguanide treatment2020
- Author(s)
  11.Yanagi K, Toguchi S, Satou K, Inoue M, Naritomi K, Matsubara Y, Kaname T
- Organizer
  ESHG
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] A variant of MAP3K7(S192G) causes dominant-negative effect and affects a congenital anomaly syndrome2020
- Author(s)
  Kaname T, Yanagi K, Kondo S, Saito K, Ishitani T, Kobayashi N, Abe Y, Tohma T, Matsubara Y
- Organizer
  第92回日本遺伝学会
- Data Source
  KAKENHI-PROJECT-18K07863
[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] 希少疾患診断とAI2020
- Author(s)
  要　匡
- Organizer
  第65回日本人類遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] Achievements of comprehensive genome analysis for undiagnosed diseases in an IRUD analysis center2020
- Author(s)
  Kaname T, Omata M, Igarashi A, Satou K, Yanagi K, Matsubara Y
- Organizer
  第43回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] A novel deletion in ZEB2 and biallelic frameshift variants in CNKSR1 identified in a patient dysmorphologically diagnosed with Mowat-Wilson syndrome2020
- Author(s)
  Kaname T, Yanagi K, Takeshita M, Omata M, Kobayashi N, Abe Y, Naritomi K, Matsubara Y
- Organizer
  ESHG
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] 希少・未診断疾患イニシアチブの進展と課題2020
- Author(s)
  要　匡
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[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] A novel missense variant of MAP3K7 causes cardiospondylocarpofacial syndrome by dominant negative effect2019
- Author(s)
  Kaname T, Saito K, Yanagi K, Takeshita M, Kobayashi N, Tohma T, Inoue I, Matsubara Y
- Organizer
  The European Society of Human Genetics (ESHG) 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] Biallelic frameshift variants in CNKSR1 and a novel deletion in ZEB2 identified in a patient dysmorphologically diagnosed with Mowat-Wilson syndrome2019
- Author(s)
  T. Kaname, K. Yanagi, M. Takeshita, K. Naritomi, Y. Matsubara
- Organizer
  The American Society of Human Genetics 2019 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] Efficacy of variant prediction tools on large-scale analysis using whole exome sequence in rare diseases2019
- Author(s)
  Yanagi K, Satou K, Kishimoto Y, Nakabayashi K, Okamura K, Hata K, Matsubara Y, Kaname T
- Organizer
  VEPTC 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] Apert症候群患者頭蓋骨由来骨芽細胞における分化マーカーの発現検討2019
- Author(s)
  柳澤　昇平、武智正樹、Rajendran Arun Kumar、上田晃一、塗隆志、要匡、柳　久美子、小林眞司、原田敦子、原田浩之、井関祥子
- Organizer
  第15回　Craniosynostosis研究会
- Data Source
  KAKENHI-PROJECT-17H04357
[Presentation] 潜性（劣性）遺伝形式を示す自然発生多血症モデルマウス『pocy』の解析2018
- Author(s)
  (1)荒木　正健、古閑　成美、林田　隆成、北元　優梨、慶田　貴子、吉信　公美子、柳　久美子、要　匡、荒木　喜美
- Organizer
  第65回日本実験動物学会総会、2018年5月16日-18日、富山市（富山県民会館）
- Data Source
  KAKENHI-PROJECT-17K19918
[Presentation] Cochlear implantation in a patient with Takenouchi-Kosaki syndrome2018
- Author(s)
  Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Mikio Suzuki, Tetsuya Tono
- Organizer
  European Academy of Otology & Neuro-Otology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K11337
[Presentation] Nager症候群の発生学的成因の解明に向けて2018
- Author(s)
  山田隆彦, 横山紀典, 平岡優一, 石久保春美, 宇佐美貴子, 多賀祐喜, 柳久美子, 後藤希代子, 要匡, 武智正樹, 井関祥子
- Organizer
  日本先天異常学会
- Data Source
  KAKENHI-PROJECT-18K06821
[Presentation] A severe case of Aicardi-Goutieres Syndrome-7 with novel pathogenic variant in IFIH12018
- Author(s)
  Kaname T, et al.
- Organizer
  ASHG2018
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] IRUD　と　IRUD Beyond2018
- Author(s)
  要　匡
- Organizer
  第42回日本遺伝カウンセリング学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] 劣性（潜性）遺伝形式を示す自然発生多血症モデルマウス『pocy』の解析2018
- Author(s)
  古閑成美,要匡，吉信公美子，荒木喜美, 荒木正健
- Organizer
  平成29年度文部科学省新学術領域研究　学術研究支援基盤形成　先端モデル動物支援プラットフォーム　成果発表会
- Data Source
  KAKENHI-PROJECT-17K19918
[Presentation] 潜性遺伝形式を示す自然発生突然変異多血症モデルマウス『pocy』の解析2018
- Author(s)
  (2)北元　優梨、古閑　成美、林田　隆成、慶田　貴子、吉信　公美子、柳　久美子、要　匡、荒木　喜美、荒木　正健
- Organizer
  第31回モロシヌス研究会，2018.6.22-23，札幌市（北海道大学）
- Data Source
  KAKENHI-PROJECT-17K19918
[Presentation] 14.A novel pathogenic variant of PURA in a patient with severe developmental delay, delayed myelination and empty sella2018
- Author(s)
  Kaname T, et al.
- Organizer
  The European Society of Human Genetics (ESHG) 2018
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] ロングリードシーケンサの活用と臨床シーケンス2018
- Author(s)
  要　匡
- Organizer
  日本人類遺伝学会　第63回大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] 全遺伝子検索と小児突然死2018
- Author(s)
  要　匡
- Organizer
  第65回日本小児保健協会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07863
[Presentation] 潜性（劣性）遺伝形式を示す自然発生多血症モデルマウス『pocy』の解析2018
- Author(s)
  北元　優梨、古閑　成美、林田　隆成、慶田　貴子、吉信　公美子、柳　久美子、要　匡、荒木　喜美、荒木　正健
- Organizer
  第41回日本分子生物学会年会、2018年11月28日-30日、横浜市（パシフィコ横浜）
- Data Source
  KAKENHI-PROJECT-17K19918
[Presentation] 潜性（劣性）遺伝形式で多血症の症状を示す自然発生突然変異マウス『pocy』の解析2018
- Author(s)
  (5)荒木　正健、古閑　成美、林田　隆成、北元　優梨、慶田　貴子、吉信　公美子、鳥越　大輔、中村　直子、柳　久美子、要　匡、荒木　喜美
- Organizer
  日本遺伝学会第90回大会、2018年9月19日-21日、奈良県生駒市（奈良先端科学技術大学院大学）
- Data Source
  KAKENHI-PROJECT-17K19918
[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] ヒト疾患ゲノム解析ツールとしての次世代シーケンサ2016
- Author(s)
  要匡
- Organizer
  日本遺伝学会　第88回大会
- Place of Presentation
  三島（静岡）
- Year and Date
  2016-09-07
- Invited
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 医学における次世代シーケンスの現状と課題2016
- Author(s)
  要匡
- Organizer
  JASIS 2016
- Place of Presentation
  幕張
- Year and Date
  2016-09-09
- Invited
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 疾患ゲノム解析の動向2016
- Author(s)
  要匡
- Organizer
  第23回　遺伝性疾患に関する出生前診断研究会
- Place of Presentation
  長崎
- Year and Date
  2016-09-24
- Invited
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Three major mutations and their rapid detection of the SLC26A4 gene in East Asian patients with Pendred syndrome/enlarged vestibular aqueduct syndrome2016
- Author(s)
  Kaname et al.
- Organizer
  EUROPEAN Human Genetics CONFERENCE 2016 (ESHG2016)
- Place of Presentation
  Barcelona, Spain
- Year and Date
  2016-05-21
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Novel mutations in PDE4D and molecular pathology of acrodysostosis without hormone resistance2016
- Author(s)
  Kaname et al.
- Organizer
  he 13th International Congress of Human Genetics (ICHG2016)
- Place of Presentation
  Kyoto
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] A novel mutation in the VIPAS39 gene found in two families with atypical arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome2016
- Author(s)
  Kaname et al.
- Organizer
  The American Society of Human Genetics 2016 Annual Meeting (ASHG2016)
- Place of Presentation
  Vancouver, Canada
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Multiplex LA-PCR―NGSターゲットリシーケンスによるCHD7遺伝子全長領域の解析2016
- Author(s)
  要匡　他
- Organizer
  第56回　日本先天異常学会学術集会
- Place of Presentation
  姫路
- Year and Date
  2016-07-29
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Two major mutations and their rapid detection of the SLC6A4 gene in Okinawan patients with Pendred syndrome/enlarged vestibular aqueduct syndrome2015
- Author(s)
  Kaname et al.
- Organizer
  BMB2015
- Place of Presentation
  神戸
- Year and Date
  2015-12-01
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Mutations in PDE4D and molecular pathology of acrodysostosis without hormone resistance2015
- Author(s)
  T. Kaname et al.
- Organizer
  European Human Genetics Conference 2015
- Place of Presentation
  Glasgow, UK
- Year and Date
  2015-06-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Clinical application and its pitfalls of next-generation sequencing2015
- Author(s)
  T. Kaname
- Organizer
  4th annmual meeting EAUHGS 2015
- Place of Presentation
  Seuol, Korea
- Year and Date
  2015-11-26
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Incidental findings（偶発的所見）を考える2015
- Author(s)
  要匡
- Organizer
  日本人類遺伝学会　第60回大会
- Place of Presentation
  東京
- Year and Date
  2015-10-14
- Invited
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] A novel mutation of the TWIST1 gene in a family with Baller-Gerold syndrome without poikiloderma2015
- Author(s)
  Kaname et al.
- Organizer
  American Society of Human Genetics meeting 2015
- Place of Presentation
  Baltimore, MD, USA
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 効率の良いクリニカルシーケンスに向けた難聴遺伝子診断パネルによる沖縄難聴患児の遺伝子診断2015
- Author(s)
  要匡　他
- Organizer
  第55回日本先天異常学会／第38回日本小児遺伝学会学術集会
- Place of Presentation
  横浜
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 頭蓋骨異常・骨形成異常を来す疾患の新規原因遺伝子の探索2015
- Author(s)
  要匡
- Organizer
  新学術領域研究「ゲノム支援」拡大班会議
- Place of Presentation
  京都
- Year and Date
  2015-08-27
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 次世代シーケンサ診断パネルにて検出困難であったTWSIT1遺伝子新規変異を認めたBaller-Gerold症候群疑い例2015
- Author(s)
  要匡　他
- Organizer
  日本人類遺伝学会　第60回大会
- Place of Presentation
  東京
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 次世代シークエンサーでわかること、わからないこと　ー最近の動向ー2015
- Author(s)
  要匡
- Organizer
  第163回染色体研究会
- Place of Presentation
  東京
- Year and Date
  2015-10-03
- Invited
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 次世代シークエンサーの最近の動向2015
- Author(s)
  要匡
- Organizer
  第4回　ゲノム懇話会
- Place of Presentation
  東京
- Year and Date
  2015-10-15
- Invited
- Data Source
  KAKENHI-PROJECT-26430194
[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] 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
- 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] 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
- 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 DNAs2013
- Author(s)
  Kaname T
- Organizer
  The American Society of Human Genetics, 63rd Annual Meeting
- Place of Presentation
  Boston, MT, USA
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] FGD1遺伝子変異を認めるAarskog-Scott症候群の特徴2013
- Author(s)
  要匡、岡本伸彦、黒澤健司、泉川良範、福嶋義光、水野誠司、成富研二
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島国際会議場,広島市文化交流会館;広島
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] 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
- 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] 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
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] 次世代シーケンサによるレンツ小眼球症候群の変異同定と診断システムの確立2012
- Author(s)
  要匡、當間隆也、村松友佳子、板垣裕輔、水野誠司、黒澤健司、成富研二
- Organizer
  第115回日本小児科学会学術集会
- Place of Presentation
  福岡国際会議場;福岡
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Exome解析を活用したヒト遺伝性疾患の原因解析の実践(invited)2012
- Author(s)
  要匡
- Organizer
  ゲノムテクノロジー第164委員会沖縄分科会
- Place of Presentation
  那覇
- Year and Date
  2012-01-25
- Data Source
  KAKENHI-PROJECT-21591329
[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
- 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] Exome解析を活用したヒト遺伝性疾患の原因解析の実践2012
- Author(s)
  要匡
- Organizer
  ゲノムテクノロジー第164委員会沖縄分科会
- Place of Presentation
  沖縄県市町村自治会館(沖縄)(招待講演)
- Year and Date
  2012-01-25
- Data Source
  KAKENHI-PROJECT-21591329
[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] 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
- Data Source
  KAKENHI-PROJECT-23591506
[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
- 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
- Organizer
  第52回日本先天異常学会学術集会
- 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] 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
- 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
- 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-21591329
[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、他
- Organizer
  第18回出生前診断研究会
- Place of Presentation
  佐賀
- Year and Date
  2011-10-01
- Data Source
  KAKENHI-PROJECT-21591329
[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
- Data Source
  KAKENHI-PROJECT-21591329
[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）
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] 次世代シーケンサが拓く医療・医学の新時代2011
- Author(s)
  要匡
- Organizer
  OKINAWAライフサイエンスシンポジウムIII
- Place of Presentation
  パシフィックホテル沖縄(沖縄)
- Year and Date
  2011-01-20
- Data Source
  KAKENHI-PROJECT-21591329
[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] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011
- Author(s)
  Kaname T, et al.
- Organizer
  61^<st> the American Society of Human Genetics Annual meeting
- Place of Presentation
  Montreal, Canada
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  T Kaname
- Organizer
  44th Annual Meeting for the Japanese Society of Developmental Biologists
- Place of Presentation
  Okinawa Convention Center, Okinawa
- Data Source
  KAKENHI-PROJECT-21591329
[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] 次世代シーケンサが拓く医療・医学の新時代(invited)2011
- Author(s)
  要匡
- Organizer
  OKINAWAライフサイエンスシンポジウムIII
- Place of Presentation
  那覇
- Year and Date
  2011-01-20
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] The practice of whole exome sequencing in two genetic diseases, X-linked recessive and autosomal dominant disorders(invited)2011
- Author(s)
  Kaname T
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 医学研究とバイオインフォマティクス(invited)2011
- Author(s)
  要匡
- Organizer
  バイオインフォマティクス・フォーラムin沖縄2011
- Place of Presentation
  那覇
- Year and Date
  2011-06-26
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Analysis of interaction between CD96 and extracellular matrix proteins2011
- Author(s)
  Kaname T, et al
- Organizer
  44th Annual Meeting for the Japanese Society of Developmental Biologists
- Place of Presentation
  Okinawa
- Data Source
  KAKENHI-PROJECT-21591329
[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)
- Data Source
  KAKENHI-PROJECT-21591329
[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] 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)
- Data Source
  KAKENHI-PROJECT-21591329
[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] 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、他
- Organizer
  第84回日本生化学会大会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 医学研究とバイオインフォマティクス2011
- Author(s)
  要匡
- Organizer
  バイオインフォマティクス・フォーラムin沖縄2011
- Place of Presentation
  那覇(沖縄)(招待講演)
- Year and Date
  2011-06-26
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] The practice of whole exome sequencing in two genetic diseases, X-linked recessive and autosomal dominant disorders2011
- Author(s)
  T Kaname
- 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)(招待講演)
- Data Source
  KAKENHI-PROJECT-21591329
[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）
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Opitz C様症候群（Bohring-Opitz症候群）におけるASXL1遺伝子変異2011
- Author(s)
  要　匡
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ（千葉）
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Opitz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、他
- Organizer
  第51回日本先天異常学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-21591329
[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
- 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
- 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] 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)
- Year and Date
  2011-10-01
- 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] 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)
- Data Source
  KAKENHI-PROJECT-21590362
[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
- 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 analysis2011
- Author(s)
  Kaname T, et al.
- Organizer
  60^<th> the American Society of Human Genetics Annual meeting
- Place of Presentation
  Washington DC, USA.
- Data Source
  KAKENHI-PROJECT-21591329
[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] pitz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)
- 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、他
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-21591329
[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] Resequencing of the candidate region for 16q-ADCA and detection of an insertion polymorphism by fragment assembly data using massively parallel short-read sequencing.2010
- Author(s)
  Kaname, Tadashi
- Organizer
  ESHG2010 (EUROPEAN Human GeneticsCONFERENCE 2010)
- Place of Presentation
  Gothenburg Convention Center, Sweden
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] これから目線でゲノムを見に行こう.次世代シーケンサーが我々にもたらしたもの-(invited)2010
- Author(s)
  要匡
- Organizer
  市民講座「ゲノム情報がもたらす医療の革新」
- Place of Presentation
  東京
- Year and Date
  2010-02-28
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Exome analysis in a patient with Kabuki make-up syndrome by whole exon capture and re-sequencing2010
- Author(s)
  要匡
- Organizer
  BMB2010 (第33回日本分子生物学会・第83回日本生化学会大会合同大会)
- Place of Presentation
  神戸ポートアイランド(兵庫)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 微量検体からの迅速・安価な遺伝子変異スキャニングシステムの構築2010
- Author(s)
  要匡、他
- Organizer
  第17回出生前診断研究会
- Place of Presentation
  那覇
- Year and Date
  2010-11-20
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 微量検体からの迅速・安価な遺伝子変異スキャニングシステムの構築2010
- Author(s)
  要匡
- Organizer
  出生前診断研究会
- Place of Presentation
  沖縄小児保健センター(沖縄)
- Year and Date
  2010-11-17
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Re-sequencing analysis of candidate region for a neurodegenerative disorder by massively parallel sequencing2010
- Author(s)
  Kaname, Tadashi
- 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] 微量検体からの迅速・安価な遺伝子変異スキャニングシステムの構築2010
- Author(s)
  要匡
- Organizer
  出生前診断研究会
- Place of Presentation
  沖縄小児保健センター
- Year and Date
  2010-11-17
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Resequencing of the candidate region for 16q-ADCA and detection of an insertion polymorphism by fragment assembly data using massively parallel short-read sequencing2010
- Author(s)
  Kaname T, et al.
- Organizer
  ESHG2010(EUROPEAN Human Genetics Conference 2010)
- Place of Presentation
  Gothenburg, Sweden
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 歌舞伎メーキャップ症候群のエクソーム解析2010
- Author(s)
  要匡、他
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 自閉症関連遺伝子NLGN3, NLGN4の高速多型スキャニングシステムの構築と解析2010
- Author(s)
  要匡、他
- Organizer
  第113回日本小児科学会学術集会
- Place of Presentation
  盛岡
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] これから目線でゲノムを見に行こう -次世代シーケンサーが我々にもたらしたもの-2010
- Author(s)
  要匡
- Organizer
  市民講座「ゲノム情報がもたらす医療の革新」
- Place of Presentation
  日本科学未来館東京
- Year and Date
  2010-02-28
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 自閉症関連遺伝子NLGN3, NLGN4の高速多型スキャニングシステムの構築と解析2010
- Author(s)
  要匡
- Organizer
  第113回日本小児科学会学術集会
- Place of Presentation
  盛岡市民文化ホール(岩手)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] ヒト遺伝性疾患の原因同定へ向けた全候補領域リシーケンス解析2010
- Author(s)
  要匡
- Organizer
  第4回バイオインフォマティクス研究者と医学研究者の交流会
- Place of Presentation
  東京大学柏キャンパス柏(千葉)
- Year and Date
  2010-11-20
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Exploring the responsible gene for a familial ALS by next-generation sequencer(invited)2010
- Author(s)
  Kaname T, et al.
- Organizer
  第51回日本神経学会総会
- Place of Presentation
  東京
- Year and Date
  2010-05-22
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] PCR-高解像度融解曲線分析法による自閉症関連遺伝子多型スキャニングシステムの構築と解析2010
- Author(s)
  要匡
- Organizer
  第17回日本遺伝子診療学会
- Place of Presentation
  三重県医師会館
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Exploring the responsible gene for a familial ALS by next-generation sequencer.2010
- Author(s)
  Kaname, Tadashi
- Organizer
  第51回日本神経学会総会
- Place of Presentation
  東京国際フォーラム(東京)
- Year and Date
  2010-05-22
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] PCR-高精度融解曲線分析法による自閉症関連遺伝子群の変異/多型スクリーニングシステムの構築2010
- Author(s)
  要匡、他
- Organizer
  第50回に本先天異常学会学術集会
- Place of Presentation
  淡路(兵庫)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Exome analysis in a patient with Kabuki make-up syndrome by whole exon capture and re-sequencing2010
- Author(s)
  要匡、他
- Organizer
  BMB2010
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 歌舞伎メーキャップ症候群のエクソーム解析2010
- Author(s)
  要匡
- 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ー(埼玉)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 微量検体からの迅速・安価な遺伝子変異スキャニングシステムの構築2010
- Author(s)
  要匡
- Organizer
  第17回出生前診断研究会
- Place of Presentation
  沖縄小児保健センター(沖縄)
- Year and Date
  2010-11-20
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 次世代シーケンサを用いた原因候補全領域リシーケンス解析へのアプローチ;日本人ゲノム16q22領域の構造解析2009
- Author(s)
  要匡, ら
- Organizer
  第16回日本遺伝子診療学会
- Place of Presentation
  ホテル札幌ガーデンパレス札幌
- Year and Date
  2009-07-31
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Resequencing of the whole candidate region for 16q22-linked spinocerebellar ataxia in Japanese individuals using next-generation sequencing2009
- Author(s)
  Kaname T, et al.
- Organizer
  59^<th> the American Society of Human Genetics Annual meeting
- Place of Presentation
  Hawaii, USA.
- Year and Date
  2009-10-22
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Resequencing of the whole candidate region for 16q22-linked spinocerebellar ataxia in Japanese individuals using next-generation sequencing2009
- Author(s)
  要匡, et al.
- Organizer
  59^<th> the American Society of Human Genetics Annual meeting
- Place of Presentation
  Hawaii, USA
- Year and Date
  2009-10-22
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene2009
- Author(s)
  T Kaname
- Organizer
  European Human Genetics Conference 2009
- Place of Presentation
  Vienna, Austria
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 次世代シーケンサを用いた染色体16q22領域の日本人ゲノム構造解析2009
- Author(s)
  要匡, ら
- Organizer
  第49回日本先天異常学会学術集会
- Place of Presentation
  鹿児島市民文化ホール, 鹿児島
- Year and Date
  2009-06-26
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] ヒト疾患と遺伝子:臨床診断と責任遺伝子診断(invited)2009
- Author(s)
  成富研二、要匡
- Organizer
  第49回日本先天異常学会学術集会
- Place of Presentation
  鹿児島
- Year and Date
  2009-06-25
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene2009
- Author(s)
  Kaname T, et al.
- Organizer
  ESHG2009(EUROPEAN Human Genetics Conference 2009)
- Place of Presentation
  Vienna, Austria
- Year and Date
  2009-05-24
- Data Source
  KAKENHI-PROJECT-21591329
[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] 次世代シーケンサによる日本人ゲノム16q-ADCA原因候補領域の構造解析2009
- Author(s)
  要匡、他
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] PCR-高解像度融解曲線分析法による高速遺伝子変異スクリーニングシステムの構築2009
- Author(s)
  要匡、他
- Organizer
  第112回日本小児科学会学術集会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 次世代シーケンサを用いた染色体16q22領域の日本人ゲノム構造解析2009
- Author(s)
  要匡、他
- Organizer
  第49回日本先天異常学会学術集会
- Place of Presentation
  鹿児島
- Year and Date
  2009-06-26
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] ヒト遺伝性疾患の原因同定へ向けた全候補領域リシーケンス解析(invited)2009
- Author(s)
  要匡
- Organizer
  第4回バイオインフォマティクス研究者と医学研究者の交流会
- Place of Presentation
  柏(千葉)
- Year and Date
  2009-11-20
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] ヒト疾患と遺伝子:臨床診断と責任遺伝子診断2009
- Author(s)
  成富研二, 要匡
- Organizer
  第49回日本先天異常学会学術集会
- Place of Presentation
  鹿児島市民文化ホール, 鹿児島
- Year and Date
  2009-06-25
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 自閉症スペクトラム感受性遺伝子、NLGN3およびNLGN4のハイスループット解析法の確立2009
- Author(s)
  柳久美子, 要匡, 福嶋義光, 成富研二
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京(品川)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene, FGD12009
- Author(s)
  要匡, et al.
- Organizer
  European Human Genetics Conference 2009
- Place of Presentation
  Vienna, Austria
- Year and Date
  2009-05-24
- Data Source
  KAKENHI-PROJECT-21591329
[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] 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
- Organizer
  第16回日本遺伝子診療学会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 次世代シーケンサを用いた原因全候補領域リシーケンス解析へのアプローチ2009
- Author(s)
  要匡、他
- Organizer
  第16回日本遺伝子診療学会
- Place of Presentation
  札幌
- Year and Date
  2009-07-31
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 次世代シーケンサによる日本人ゲノム16q-ADCA原因候補領域の構造解析2009
- Author(s)
  要匡, ら
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  グランドプリンスホテル高輪東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 免疫グロブリンスーパーファミリーCD96遺伝子変異はOpitz三角頭蓋症候群の原因となる2008
- Author(s)
  要匡, 他
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京(東京国際フォーラム)
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] A 14Mb duplication of 9q31.1-q33.1 associated with features resembling Opitz trigonocephaly C syndrome, trigonocephaly, facial dysmorphism, capillary hemangioma, redundant nuchal skin, and hypogenesis of corpus callosum2008
- Author(s)
  Kaname, 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] ハイスループット遺伝子スキャニングヘ向けたPCR-高解像度融解曲線分析法の至適条件検討とFGD1遺伝子変異スクリーニングシステムの構築2008
- Author(s)
  要匡, 他
- Organizer
  BMB2008(第31回日本分子生物学会年会・第81回日本生化学会大会合同大会)
- Place of Presentation
  横浜(パシフィコ横浜・神戸ポートアイランド)
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] 染色体構造異常から迫る、Opitz三角頭蓋症候群の原因遺伝子単離と機能解析2008
- Author(s)
  要匡, 他
- Organizer
  第48回日本先天異常学会学術集会
- Place of Presentation
  東京 (聖路加国際病・聖路加看護大学・アリス・セントジョン・メモリアルホール)
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] PCR/high-resolution melting analysis for rapid and sensitive gene scanning of the faciogenital dysplasia gene, FGD12008
- Author(s)
  Kaname, et al.
- Organizer
  58th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Philadelphia, USA
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] Functional analysis of CD96, a causative gene for a form of C (Opitz trigonocephaly) syndrome2008
- Author(s)
  Kaname, et al.
- Organizer
  EUROPEAN Human Genetics CONFERENCE 2008
- Place of Presentation
  Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] ハイスループット遺伝子変異スクリーニングへ向けたPCR-高解像度融解曲線分析法のための至適蛍光色素、増幅産物長の検討2008
- Author(s)
  要匡, 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] Deficiency of a member of the immunoglobulin superfamily causes a form of C (Opitz trigonocephaly) syndrome2007
- Author(s)
  Kaname, et. al.
- Organizer
  57th Annual meeting of the American Society of Human Genetics
- Place of Presentation
  SanDiego, CA, USA
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] Detection of rare variations in a targeted genomic region in a population by NGS analysis using pooled DNAs
- Author(s)
  Kaname et al.
- Organizer
  ESHG2014
- Place of Presentation
  Milan, Italy
- Year and Date
  2014-05-31 – 2014-06-03
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Molecular pathology of acrodysostosis without hormone resistance caused by heterozygous mutations in cAMP phosphodiesterase-4D
- Author(s)
  Kaname et al.
- Organizer
  第37回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜（神奈川・横浜）
- Year and Date
  2014-11-25 – 2014-11-27
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] 次世代シーケンサにより母親の低頻度体細胞モザイクを確認した点状軟骨異形成症の一例
- Author(s)
  要匡　他
- Organizer
  第117回　日本小児科学会学術集会
- Place of Presentation
  名古屋国際会議場（愛知・名古屋）
- Year and Date
  2014-04-11 – 2014-04-13
- Data Source
  KAKENHI-PROJECT-26430194
[Presentation] Ohdo症候群オリジナル症例はKAT6B, MED12以外の遺伝子が原因である
- Author(s)
  要匡　他
- Organizer
  日本人類遺伝学会　第59回大会／日本遺伝子診療学会　第21回大会
- Place of Presentation
  タワーホール船堀（東京）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26430194

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KANAME Tadashi 要 匡

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Development of a newborn ultra-rapid genome screening system beyond newborn mass screeningPrincipal Investigator

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Establishment of next-generation comprehensive diagnostic system for patients with craniosynostosis and search for therapeutic targetsPrincipal Investigator

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KANAME Tadashi 要匡

[Book] 子どもの病気　遺伝について聞かれたら2015