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Elucidation of genetic factors and molecular pathology of neurodevelopmental disorders by a multifaceted approach

Elucidation of genetic factors and molecular pathology of neurodevelopmental disorders by a multifaceted approach
通过多方面的方法阐明神经发育障碍的遗传因素和分子病理学
批准号:
20H03641
负责人:
Saitsu Hirotomo
金额:
$11.4万
依托单位国家:
日本
项目类别:
Grant-in-Aid for Scientific Research (B)
财政年份:
2020
资助国家:
日本
项目状态:
已结题
起止时间:
2020-04-01 至 2023-03-31

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期刊论文(63)
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会议论文
Characterization of KMT2A :: MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR.
急性淋巴细胞白血病患者 KMT2A::MATR3 融合的表征以及通过纳米板数字 PCR 监测微小残留病。
DOI: 10.1002/pbc.30120
发表时间: 2022
期刊: Pediatr Blood Cancer
影响因子: 3.2
作者: [Komatsu K, Sakaguchi K, Shimizu D, Yamoto K, Kato F, Ogata T, Saitsu H]
通讯作者: Saitsu H
DOI: 10.1038/s10038-021-00953-7
发表时间: 2021-06-25
期刊: JOURNAL OF HUMAN GENETICS
影响因子: 3.5
作者: [Miyamoto,Sachiko, Kato,Mitsuhiro, Saitsu,Hirotomo]
通讯作者: Saitsu,Hirotomo
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia
一种新型内含子 PORCN 变体在患有局灶性真皮发育不全的母亲和她的女儿体内创建替代剪接受体位点
DOI: 10.1002/ajmg.a.62649
发表时间: 2022
期刊: Am J Med Genet A
影响因子: 2
作者: [Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H, Ogata T]
通讯作者: Ogata T
ACAN biallelic variants in a girl with severe idiopathic short stature
严重特发性身材矮小女孩的 ACAN 双等位基因变异
DOI: 10.1038/s10038-022-01030-3
发表时间: 2022
期刊: J Hum Genet
影响因子: 3.5
作者: [Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T]
通讯作者: Ogata T
共 41 条
    Multiomics analysis of neurological diseases using neural progenitor cells directly derived from urinary cells
    • 批准号:
      20K21570
    • 项目类别:
      Grant-in-Aid for Challenging Research (Exploratory)
    • 资助金额:
      $4.08万
    • 财政年份:
      2020
    • 负责人:
      Saitsu Hirotomo
    • 依托单位:
    Elucidation for genetic basis and molecular pathology of infantile epileptic encephalopathy
    • 批准号:
      16H05160
    • 项目类别:
      Grant-in-Aid for Scientific Research (B)
    • 资助金额:
      $11.23万
    • 财政年份:
      2016
    • 负责人:
      Saitsu Hirotomo
    • 依托单位:
    Comprehensive RNA analysis of disease causing genes by target RNA capture
    Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysis
    海外基金