Rchr
J-GLOBAL ID：200901090280117975   Update date: Feb. 01, 2024

Makita Yoshio

マキタ ヨシオ | Makita Yoshio
Affiliation and department：
Asahikawa Medical College

About Asahikawa Medical College


Job title： Professor
Research field  (3)： Primary/secondary education and curricula ,  Fetal medicine/Pediatrics ,  Medical biochemistry
Research keywords  (23)： ハプロタイプ ,  関連解析 ,  isodisomy ,  先天異常 ,  SNPs ,  アレイCGH法 ,  染色体異常 ,  奇形症候群 ,  潜在性異常 ,  主効果遺伝子 ,  多因子疾患 ,  ケースコントロール解析 ,  ゲノム ,  遺伝的制御 ,  医療・福祉 ,  子宮内発育不全 ,  遺伝疾患 ,  遺伝子 ,  医学教育学 ,  人類遺伝学 ,  先天異常学 ,  Human Genetics ,  Pediatrics
Research theme for competitive and other funds  (16)：
  • 2018 - 2021 Creation of genetic counseling role-play curriculum with rubric table
  • 2008 - 2010 Impact of glucocorticoid exposure for fetus in fetal development and neonatal disease
  • 2008 - 2010 New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray
  • 2005 - 2010 アレイCGH法を用いた、多発奇形症候群の新規遺伝子の単離
  • 2005 - 2010 アレイCGH法を用いた、染色体微細欠失症候群の網羅的診断法の開発
Show all
Papers (73)：
  • Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, et al. A novel HECW2 variant in an infant with congenital long QT syndrome. Human Genome Variation. 2023. 10. 1
  • Shunsuke Haga, Ryo Takeguchi, Ryosuke Tanaka, Akira Satake, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi. 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 study. Brain and Development. 2023
  • Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname. GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. Human genome variation. 2023. 10. 1. 4-4
  • Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi. Novel NARS2 variant causing leigh syndrome with normal lactate levels. Human Genome Variation. 2022. 9. 1
  • Yuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, Yoshio Makita, Takashi Kimura, Kumiko Yanagi, Tadashi Kaname, Ichizo Nishino, Satoru Takahashi. Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review. Journal of Clinical Neuromuscular Disease. 2022. 24. 1. 49-54
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MISC (56)：
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Books (3)：
  • コアカリ準拠臨床遺伝学テキストノート : ゲノム医療に必要な考え方を身につける
    診断と治療社 2018 ISBN:9784787823168
  • アレイCGH診断活用ガイドブック : 知っておきたい染色体微細構造異常症
    医薬ジャーナル社 2008 ISBN:9784753222926
  • Involvement of activator protein in the activation of tryptophan hydroxylase by cAMP-dependent protein kinase
Education (4)：
  • - 1991 Asahikawa Medical University
  • - 1991 Asahikawa Medical College Graduate School, Division of Medicine
  • - 1987 Asahikawa Medical University School of Medicine
  • - 1987 Asahikawa Medical College Faculty of Medicine
Professional career (1)：
  • (BLANK) (Asahikawa Medical College)
Work history (1)：
  • 2007/05 - 現在 Asahikawa Medical University School of Medicine
Awards (1)：
  • 2001 - 日本人類遺伝学会奨励賞
Association Membership(s) (5)：
日本遺伝性腫瘍学会 ,  JAPAN SOCIETY FOR MEDICAL EDUCATION ,  THE JAPANESE SOCIETY FOR GENETIC COUNSELING ,  日本人類遺伝学会 ,  日本小児科学会
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