Rchr
J-GLOBAL ID:202001015405519570   Update date: Jun. 12, 2021

Nishimura Naoto

ニシムラ ナオト | Nishimura Naoto
Affiliation and department:
Other affiliations (1):
  • 横須賀救急救命士養成所  教官
Research field  (2): Emergency medicine ,  Fetal medicine/Pediatrics
Papers (11):
  • Naoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, Yumi Enomoto, Kaoru Katsumata, Katsuaki Toyoshima, Kenji Kurosawa. Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant. Human Genome Variation. 2020. 7. 1
  • Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, et al. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. American journal of medical genetics. Part A. 2020
  • Naoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Megumi Tsuji, Yu Tsuyusaki, Tomohide Goto, Noriko Aida, Kenji Kurosawa. Expanding the phenotype of COL4A1-related disorders-Four novel variants. Brain and Development. 2020
  • Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne Buciek Hove, Daniel Rocha Carvalho, Kenji Kurosawa, Naoto Nishimura, Gen Nishimura, Renu Saxena, Carlos Ferreira, et al. Unique skeletal manifestations in patients with Primrose syndrome. European Journal of Medical Genetics. 2020. 103967-103967
  • Naoto Nishimura, Hiroaki Murakami, Tomoko Hayashi, Hironobu Sato, Kenji Kurosawa. Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9. Congenital Anomalies. 2020
more...
MISC (31):
  • 西村 直人, 熊木 達郎, 村上 博昭, 黒澤 健司. 9番染色体母性イソダイソミーによるIL11RA遺伝子のホモ接合性変異を認めた頭蓋多縫合早期癒合症の1例. 日本小児科学会雑誌. 2021. 125. 2. 331-331
  • 松村 壮史, 高橋 英彦, 西村 直人, 熊木 達郎, 村上 博昭, 黒澤 健司, 榎本 友美. 遺伝子変異が同定されたBardet-Biedl症候群の臨床像. 日本小児腎臓病学会雑誌. 2020. 33. 1Suppl. 149-149
  • 西村 直人, 熊木 達郎, 村上 博昭, 黒澤 健司. FOXP1遺伝子を含む3p13欠失の遺伝子型と表現型の相関性に関する検討. 脳と発達. 2020. 52. Suppl. S230-S230
  • 熊木 達郎, 露崎 悠, 西村 直人, 村上 博昭, 榎本 友美, 黒澤 健司. 脳室周囲異所性灰白質を認めたLegius症候群の1例. 脳と発達. 2020. 52. Suppl. S305-S305
  • 熊木 達郎, 西村 直人, 村上 博昭, 榎本 友美, 黒澤 健司. 遺伝学的検査の解釈における病原性予測スコアとゲノムデータベースの有用性. 神奈川医学会雑誌. 2020. 47. 2. 218-218
more...
Books (3):
  • CASK Disorders
    2021
  • コーエン症候群
    2021
  • Pitt-Hopkins Syndrome
    GeneReviewsJapan 2021
Lectures and oral presentations  (1):
  • Novel mutations of COL4A1 in four Japanese patients with variable CNS involvements
    (The American Society of Human Genetics(Houston) 2019)
Education (1):
  • 2007 - 2013 防衛省 防衛医科大学校
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