Academic yr: <<< Previous 2022 2023 2024
 輸血・細胞プロセシング科
Summary Research grants & projects Published papers
Books Academic conference presentation


Professor：

    Shimodaira Shigetaka 		Associate Professor：
    Utsugisawa Taijiyu 		Assistant Professor：
    Shimojima Keiko
■ Summary
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■ Research grants & projects
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■ Research works
Journal Book Presentation Other presentations
JapaneseEnglish JapaneseEnglish Domesticinternational
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■ Published papers
Original article
1. Shimojima Yamamoto K†, Shimomura R, Shoji H, Yamamoto T*：  Glass syndrome derived from chromosomal breakage downstream region of SATB2.  Brain and Development  46 (9) ：281-285 , 2024.10   DOI:10.1016/j.braindev.2024.06.003 Link
2. Tamura T, Shimojima Yamamoto K, Tohyama J, Morioka I, Kanno H, Yamamoto T*：  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.  Journal of Human Genetics  in press ：in press , 2024.8   DOI:10.1038/s10038-024-01286-x Link
Review article
1. 山本圭子†, 山本俊至：  マイクロアレイ染色体検査の基本を学ぼう！.  小児科診療  87 (11) ：1489-1495 , 2024.11
Case report
1. Shimojima Yamamoto K†, Yamamoto S, Taichi Imaizumi T, Kumada S, Yamamoto T*：  Uniparental maternal tetrasomy X co-occurrence with paternal non-disjunction: Investigation of the origin of 48,XXXX.  Human Genome Variation  11 ：31 , 2024.8   DOI:10.1038/s41439-024-00289-6 Link
2. Shimojima Yamamoto K†, Itagaki Y, Tanaka K, Okamoto N, Yamamoto T*：  Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.  Human Genome Variation  11 ：20 , 2024.5   DOI:10.1038/s41439-024-00278-9 Link
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■ Books
1. Tamura T, Imaizumi T, Shimojima Yamamoto K, Yamamoto T：  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  293-304.  Springer Nature,  Hertfordshire, UK, 2024.4 Link
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■ Academic conference presentation
1. ◎下村里奈, 柳下友映, 石黒久美子, 七字美延, 佐藤孝俊, 山本下島圭子, 石垣景子, 永田智, 山本俊至： A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait.  日本人類遺伝学会第69回大会,  札幌,  2024/10
2. ◎山本俊至, 山本下島圭子, 山本櫻子, 熊田聡子, 今泉太一： Uniparental maternal tetrasomy X co-occurrence with paternal non-disjunction: Investigation of the origin of 48,XXXX.  日本人類遺伝学会第69回大会,  札幌,  2024/10
3. 田村豪良, 下澤克宣, 金澤剛二, 伊東正剛, 中原衣里,菜, 角光一郎, 森史, 梅村啓史, 下島圭子, 谷ヶ崎博, 中山智祥, 山本俊至, 森岡一朗： A case of fetal-onset atypical teratoid/rhabdoid tumor with a heterozygous germline SMARCB1 loss-of-funstion alteration.  日本人類遺伝学会第69回大会,  札幌,  2024/10
4. ◎山本圭子, 下村里奈, 東海林宏道, 山本俊至： Glass syndrome derived from chromosomal breakage downstream region of SATB2.  日本人類遺伝学会第69回大会,  札幌,  2024/10
5. ◎柳下友映, 小川優里子, 下村里奈, 山本圭子, 永田美保, 石原康貴, 平澤恭子, 永田智, 朝野仁裕, 山本俊至： A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder.  日本人類遺伝学会第69回大会,  札幌,  2024/10
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  ＊：Corresponding Author
 †：First Author
◎：Presenter