Rchr
J-GLOBAL ID:202101010329150606
Update date: Feb. 19, 2025 Oishi Kimihiko
オオイシ キミヒコ | Oishi Kimihiko
Affiliation and department: Job title:
Professor
Other affiliations (1): -
Icahn School of Medicine at Mount Sinai
Department of Genetics and Genomic Medicine
Research field (4):
Fetal medicine/Pediatrics
, Metabolism and endocrinology
, Genetics
, Cell biology
Research keywords (5):
Genetic Disorders
, Citrin Deficiency
, RNA binding protein
, Urea Cycle Disorders
, Inborn Errors of Metabolism
Research theme for competitive and other funds (2): - 2022 - 2025 TARP症候群のiPS細胞および動物モデルを用いた神経学的症状の病態解明
- 1998 - 1999 セロイドリポフスシノーシスと脳老化機序の分子生物学的研究
Papers (54): -
Shuntaro Terayama, Masahisa Kobayashi, Tokumasa Suemitsu, Osamu Samura, Kimihiko Oishi. Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child. Cureus. 2025
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Hikaru Nishida, Eri Imagawa, Toshiki Tsunogai, Naoya Saijo, Jin Ogata, Ken Sakurai, Kimihiko Oishi. A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant. Pediatrics International. 2025
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Ryota Kobayashi, Yukitoshi Tanabe, Tatsuya Hirotsu, Yuichiro Nonaka, Kimihiko Oishi, Masaharu Akiyama. Effective Treatment With Oral Propranolol for Congenital Intracranial Hemangioma in a Neonate: A Case Report and Literature Review. Cureus. 2024
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大石 公彦. 【産婦人科医が知っておくべき新生児マススクリーニング】総論 拡大新生児マススクリーニング開始までに至る背景,現状と展望. 産婦人科の実際. 2024. 73. 7. 643-647
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Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa. Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. Human Genome Variation. 2024. 11. 1
more... MISC (2): -
大川 佑花, 大場 温子, 野々山 葉月, 角皆 季樹, 今川 英里, 堀向 健太, 和田 靖之, 菊池 敦生, 村上 良子, 大石 公彦. 全ゲノム解析でPIGW遺伝子変異により診断した先天性GPI欠損症の男児例. 日本小児科学会雑誌. 2024. 128. 2. 371-371
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高見 遥, 日暮 憲道, 角皆 季樹, 菊池 敦生, 篠崎 梓, 樋渡 えりか, 今川 英里, 大石 公彦. 全般強直発作にPERが著効したSTXBP1欠失による発達性てんかん性脳症の11歳男子例. 脳と発達. 2023. 55. Suppl. S288-S288
Education (1): - 1988 - 1994 The Jikei University School of Medicine
Professional career (1): Work history (9): - 2021/08 - 現在 The Jikei University School of Medicine
- 2021/08 - 現在 Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences Adjunct Associate Professor
- 2014/07 - 2021/07 Icahn School of Medicine at Mount Sinai Departments of Pediatrics, Genetics and Genomic Sciences Assistant Professor and Attending Physician
- 2012/07 - 2014/06 Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences Medical Genetics Fellow
- 2009/07 - 2012/06 Mount Sinai School of Medicine Department of Pediatrics Pediatric Resident
- 2005/10 - 2010/06 Mount Sinai School of Medicine Departments of Pediatrics and Human Genetics Assistant Professor
- 1998/10 - 2005/10 Mount Sinai School of Medicine Departments of Pediatrics and Human Genetics Postdoctoral Fellow
- 1996/04 - 1998/09 The Jikei University School of Medicine Department of Pediatrics
- 1994/05 - 1996/03 The Jikei University School of Medicine
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Awards (7): - 2018 - Rare Diseases Clinical Research Network funded by NIH Rare Disease Clinical Research Training Program Scholar
- 2017 - Urea Cycle Disorder Consortium Fellowship
- 2013 - Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Judith P. Wilner Fellow of the Year Award
- 2012 - Mount Sinai School of Medicine Kurt Hirschhorn M.D. Clinician-Scientist Award
- 2005 - Eastern Society for Pediatric Research Young Investigator Award
- 2004 - 上原記念財団 上原記念財団リサーチフェローシップ
- 2004 - Society for Pediatric Research The Society for Pediatric Research Fellow’s Basic Research Award
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