(Last updated : 2024-10-25 14:37:54)
  Yamamoto Toshiyuki
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Professor
■ Books
1. Chapter contribution  Chapter 24: Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design, Cerebral Cortex Development-Methods and Protocols 2024/04/01 Link
■ Published papers
1. Original article  Glass syndrome derived from chromosomal breakage downstream region of SATB2 2024/10/01 Link
2. Case report  Uniparental maternal tetrasomy X co-occurrence with paternal non-disjunction: Investigation of the origin of 48,XXXX 2024/08/16 Link
3. Case report  Clonal hematopoiesis without malignant transformation lasting over 2 years in a 9-year-old boy, following treatment for acute lymphocytic leukemia 2024/08/01 Link
4. Original article  Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia and seizures 2024/08/01 Link
5. Case report  Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: a case series 2024/07/23 Link
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■ Academic conference presentation
1. A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait  2024/10/12
2. Current status of prenatal genetic testing in Japan 2023  2024/10/12
3. A case of fetal-onset atypical teratoid/rhabdoid tumor with a heterozygous germline SMARCB1 loss-of-funstion alteration  2024/10/11
4. A case report of a severe phenotype of Genitopatellar syndrome with necrotizing enterocilitis  2024/10/11
5. Current status of genetic counseling for MODY in our hospital  2024/10/11
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■ Research areas
Embryonic medicine and pediatrics 
■ Education
1. 1983/04~1989/03 Faculty of Medicine, Tottori University, Graduated,
■ Academic & professional experience
1. 2017/07 Professor
2. 2017/07~ Professor
3. 2010/04~ Tokyo Women's Medical University Institute for Integrated Medical Sciences Associate Professor
4. 2006/01~2008/03 Lecturer
■ Rsearch funding number
20252851