(Last updated : 2020-11-17 14:48:23)
  島田 姿野
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Assistant Professor
■ Published papers
1. Original article  Mutations in GET4 disrupt the transmembrane domain recognition complex pathway 2020/05
2. Original article  Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders 2019/10
3. Original article  Cysteinyl-tRNA synthtase mutations cause a multi-system, recssive disease that includes microcephaly, developmental delay, and brittle hair and nails. 2019/05
4. Case report  PRRT2 mutation in a sporadic case of paroxysmal kinesigenic dyskinesia. 2019/04
5. Case report  Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12 Link
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■ Academic conference presentation
1. IFIH1 gain of function variants: Further delineation of multiple faces of type 1 interferonopathy.  2019/10
2. Further phenotyping of MOGS-CDG, a congenital disorder of glycosylation with glucosidase 1 deficiency.  2018/10
3. A case with severe psychomotor retardation and diarrhea:Vici syndrome caused by EPG5 mutations?  2018/06/01
4. MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts  2016/06/04
5. Mutation in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease  2016/04/05
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■ Education
1. 2010/04~2014/03 〔Doctoral course〕, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,
2. 1998/04~2004/03 Yamanashi Medical University, Graduated,