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 輸血・細胞プロセシング科
Summary Research grants & projects Published papers
Academic conference presentation


Professor:
   菅野 仁
   下平 滋隆
Assistant Professor:
   UTSUGISAWA Taiju
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. Yamamoto Shimojima K*, Utsugisawa T, Ogura H, Aoki T, Kawakami T, Ohga S, Ohara A, Ito E, Yamamoto T, Kanno H:  Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.  Human Genome Variation  9 :1 , 2022.1   DOI:https://doi.org/10.1038/s41439-021-00179-1 Link
2. Leif Ludwig, Caleb Lareau, Erik Bao, Nan Liu, Taiju Utsugisawa, Alex Tseng, Samuel Myers, Jeffrey Verboon, Jacob Ulirsch, Wendy Luo, Christoph Muus, Claudia Fiorini, Meagan Olive, Christopher Vockley, Mathias Munschauer, Abigail Hunter, Hiromi Ogura, Toshiyuki Yamamoto, Hiroko Inada, Shinichiro Nakagawa, Shuichi Ohzono, Vidya Subramanian, Roberto Chiarle, Bertil Glader, Steven Carr, Martin Aryee, Anshul Kundaje, Stuart Orkin, Aviv Regev, Timothy McCavit, Hitoshi Kanno, and Vijay Sankaran:  A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1.  Blood  in press :in press , 2021.12
3. 柳下友映, 下島圭子, 西 恵理子, チョン ピンフィー, 山田 博之, 岡本 伸彦, 永田智, 山本俊至:  日本人Potocki-Lupski 症候群7症例の臨床症状.  脳と発達  53 (6) :456-461 , 2021.11
4. Yanagishita T, Hirade T, Yamamoto-Shimojima K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T*:  HECW2-related disorder in four Japanese patients.  American Journal of Medical Genetics Part A  185 (10) :2895-2902 , 2021.10   DOI:doi.org/10.1002/ajmg.a.62363
5. Utsugisawa Taiju, Okamoto Yoshio, Nakabayashi Kyoko, Yamamoto-Shimojima Keiko, Kanno Hitoshi:  The Amount of Fibrinogen in Cryoprecipitate by In-hospital Preparation.  Tokyo Women's Medical University Journal  5 :117-122 , 2021   DOI:https://doi.org/10.24488/twmuj.2021014
Review article
1. 山本圭子*, 山本俊至:  小児疾患診療のための病態生理2 改訂6版 III. 染色体異常、先天異常 1. マイクロアレイ染色体検査.  小児内科  53 (増刊号) :174-181 , 2021.12
2. 菅野仁, 小倉浩美:  網羅的遺伝子解析による先天性溶血性貧血診断の意義と課題.  臨床血液  62 (5) :472-479 , 2021.5   DOI:doi.org/10.11406/rinketsu62.227
Case report
1. Shimojima Yamamoto K, Yanagishita T, Yamamoto H, Miyamoto Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Yamamoto T*:  Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.  Human Genome Variation  8 :43 , 2021.11
2. NAMBA Takahiro, OCHI Motoharu, OGURA Hiromi, KANNO Hitoshi, HIGUCHI Yousuke:  Infantile pyknocytosis with marked hemolytic anemia.  Pediatrics and Neonatology  :10.1016/j.pedneo-2021.05015 , 2021.5   DOI:doi.org/10.1016/j-pedneo.2021.05.015
3. Yamamoto-Shimojima K, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T*:  Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease.  Human Genome Variation  8 :14 , 2021.4   DOI:https://doi.org/10.1038/s41439-021-00144-y Link
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■ Academic conference presentation
1. 中原 衣里菜, 下島 圭子, 青木貴子, 小倉 浩美, 槍澤 大樹, 赤川浩之, 山本 俊至, 丸義朗, 中村文彦, 谷ケ崎博, 伊藤悦朗, 大賀正一, 菅野 仁: Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan.  63rd ASH annual meeting and exposition,  Atlanta,  2021/12
2. Bianchi Paola, van Beers Eduard J, Vives Corrons Joan-Lluis, Glader Bertil, Glenthoj Andreas, Kanno Hitoshi, Kuo Kevin H.M., Lander Carl, Layton D.Mark, Pospisilova Dagmar, Viprakasit Vip, Williams Jean, Yan Yan, McGee Bryan, Grace Rachael F: Baseline Characteristics by age of a global cohort of patients diagnosed with pyruvate kinase deficiency - A descriptive analysis from the peak registry.  EHA2021,  online,  2021/06
3. ◎山本圭子, 柳下友映, 山本寿子, 宮本雄策, 永田美保, 石原康貴, 朝野仁裕仁裕, 山本俊至: WASF1ナンセンス変異により重度の発達遅滞を示す日本人初症例.  第44回日本小児遺伝学会学術集会、第3回日本ダウン症学会合同学術集会,  東京(Web),  2021/11
4. ◎町田 修, 山本圭子, 椎原 隆, 赤峰 哲, 吉良龍太郎, 長谷川結子, 西恵理子, 岡本伸彦, 永田 智, 菅野 仁, 山本俊至: 6番染色体長腕中間部欠失11例の遺伝子型・表現型相関.  第44回日本小児遺伝学会学術集会、第3回日本ダウン症学会合同学術集会,  東京(Web),  2021/11
5. ◎柳下友映, 衛藤 薫, 山本-下島圭子, 世川 修, 永田美保, 石原康記, 宮下洋平, 朝野仁裕, 坂田 康, 永田 智, 山本俊至: 重度の発達遅滞と頻繁に嘔吐を伴う日本人患者におけるZSWIM6のdenovo変異症例の考察.  第44回日本小児遺伝学会学術集会、第3回日本ダウン症学会合同学術集会,  東京(Web),  2021/11
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