Ohtsuka Yasufumi 大塚泰史

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OHTSUKA Yasufumi 大塚泰史

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Researcher Number	50448479
Affiliation (based on the past Project Information) *help	2019 – 2020: 佐賀大学, 医学部, 講師 2018: 佐賀大学, 医学部, 助教 2011 – 2015: 佐賀大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Embryonic/Neonatal medicine / Basic Section 56030:Urology-related
Keywords	Principal Investigator 父性ダイソミー / エクソーム解析 / 次世代シークエンサー / ベックウィズ・ビーデマン症候群 / SNPアレイ / Beckwith Wiedemann症候群 / 父性片親性ダイソミー / Beckwith-Wiedemann / uniparental dysomy / SNP array … More / Genome-wide paternal UPD / Beckwith-Wiedemann症候群 / 片親性ダイソミー / ゲノムワイド父性ダイソミー / メチル化解析 / エピジェネティック / 全ゲノム父性ダイソミー / インプリント疾患 / Beckwith-Wiedemann 症候群 / CAKUT先天性腎尿路異常 / ジェノタイピング / パラメトリック連鎖解析 / 先天性腎尿路異常 / CAKUT / Genotyping解析 / Genotyping / エクソーム / 遺伝子変異 / ゲノムアレイ Less

investigation of the new gene causing congenital anomalies of kidney and urinary tractPrincipal Investigator
- Principal Investigator
  
  Ohtsuka Yasufumi
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 56030:Urology-related
- Research Institution
  Saga University
Molecular biological analysis of genome wide paternal uniparental disomyPrincipal Investigator
- Principal Investigator
  
  Ohtsuka Yasufumi
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Saga University
The relationship between paternal uniparental disomy and renal-urological features in patients with Beckwith-Wiedemann syndromePrincipal Investigator
- Principal Investigator
  
  OHTSUKA Yasufumi
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Saga University

All 2020 2019 2016 2015 2014 2013 2012 2011 Other

All Journal Article Presentation Book Patent

[Book] 小児特発性ネフローゼ症候群　診療ガイドライン2013.2013
- Author(s)
  一般社団法人日本小児腎臓病学会、大塚泰史（作成委員：一般療法担当）
- Total Pages
  77
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-25461648
[Journal Article] Alport症候群の診断と治療2019
- Author(s)
  大塚泰史
- Journal Title
  
  小児科
  
  Volume: 60 Pages: 1647-1644
- NAID
  40022075635
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K16700
[Journal Article] Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan2019
- Author(s)
  Konishi KI, Mizuochi T, Yanagi T, Watanabe Y, Ohkubo K, Ohga S, Maruyama H, Takeuchi I, Sekine Y, Masuda K, Kikuchi N, Yotsumoto Y, Ohtsuka Y, Tanaka H, Kudo T, Noguchi A, Fuwa K, Mushiake S, Ida S, Fujishiro J, Yamashita Y, Taguchi T, Yamamoto K
- Journal Title
  
  The Journal of Pediatrics
  
  Volume: 214 Pages: 151-157
- DOI
  10.1016/j.jpeds.2019.07.039
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K06942, KAKENHI-PROJECT-18K16700, KAKENHI-PROJECT-16H02682
[Journal Article] ldentification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.2016
- Author(s)
  Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, Jozaki K, Maeda T, Kawahara K, Hamasaki Y, Matsuo M, Nishioka K, Joh K, Mukai T, Soejima H.
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 25 Pages: 1406-1419
- DOI
  10.1093/hmg/ddw023
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-26670169, KAKENHI-PROJECT-16H00598
[Journal Article] Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.2015
- Author(s)
  Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.
- Journal Title
  
  Clinical Genetics
  
  Volume: 8 Pages: 1-1
- DOI
  10.1111/cge.12496
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-26670169, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084
[Journal Article] Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY2014
- Author(s)
  Nozu K, Iijima K, Ohtsuka Y, Fu XJ, Kaito H, Nakanishi K, Vorechovsky I
- Journal Title
  
  Molecular genetics & genomic medicine
  
  Volume: 2 Pages: 451-3
- DOI
  10.1002/mgg3.89
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25893131, KAKENHI-PROJECT-26293203
[Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.2014
- Author(s)
  Maeda T, Higashimoto K, Jozaki K, Hitomi H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H
- Journal Title
  
  Genetics in Medicine
  
  Volume: 16(12) Pages: 903-12
- DOI
  10.1038/gim.2014.46
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25460409, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
[Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome2014
- Author(s)
  Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
- Journal Title
  
  Clin Genet.
  
  Volume: in press Pages: 539-44
- DOI
  10.1111/cge.12318
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23249015, KAKENHI-PROJECT-23659181, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
[Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome2013
- Author(s)
  Ken Higashimoto, Toshiyuki Maeda, Junichiro Okada, Yasufumi Ohtsuka, Kensaku Sasaki,Akiko Hirose, Makoto Nomiyama, Toshimitsu Takayanagi, Ryuji Fukuzawa, Hitomi Yatsuki,Kayoko Koide, Kenichi Nishioka, Keiichiro Joh, Yoriko Watanabe, Koh-ichiro Yoshiura andHidenobu Soejima
- Journal Title
  
  Eur J Hum Genet
  
  Pages: 1-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.2013
- Author(s)
  Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H.
- Journal Title
  
  Eur J Hum Genet.
  
  Volume: 21（11） Pages: 1316-1319
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461648
[Journal Article] 抗CFH抗体陽性およびCFHR1遺伝子欠失を伴うDEAP-HUSの1例2013
- Author(s)
  岡政史, 大塚泰史, 稲田由紀子, 佐藤忠司, 吉田瑶子, 藤村吉博, Fan Xinping, 宮田敏行, 濱崎雄平．
- Journal Title
  
  本小児腎臓病学会雑誌
  
  Volume: 26（2） Pages: 285-291
- NAID
  130004495423
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461648
[Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験有効性・安全性、薬物動態の評価.2011
- Author(s)
  飯島一誠, 佐古まゆみ, 木村利美, 服部元史, 亀井宏一, 野津寛大, 宍戸清一郎, 相川厚, 森田研, 後藤芳充, 和田尚弘, 大塚泰史, 長田道夫, 斉藤真梨, 本田雅敬, 土田尚, 中村秀文
- Journal Title
  
  日本小児腎臓病学会雑誌
  
  Volume: 24巻1号 Pages: 36-46
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Journal Article] MALL-NPHP1 遺伝子欠失を認めたSenior-Loken 症候群の一例2011
- Author(s)
  石松菜那, 大塚泰史, 岡政史, 佐藤忠司, 濱崎雄平, 青木茂久, 杉本圭相, 竹村司.
- Journal Title
  
  日本小児腎臓病学会雑誌
  
  Volume: 24巻2号 Pages: 62-66
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験　有効性・安全性、薬物動態の評価.2011
- Author(s)
  飯島一誠, 佐古まゆみ, 木村利美, 服部元史, 亀井宏一, 野津寛大, 宍戸清一郎, 相川厚, 森田研, 後藤芳充, 和田尚弘, 大塚泰史, 長田道夫, 斉藤真梨, 本田雅敬, 土田尚, 中村秀文
- Journal Title
  
  日本小児腎臓病学会雑誌
  
  Volume: 24(1) Pages: 36-46
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Journal Article] MALL-NPHP1遺伝子欠失を認めたSenior-Löken症候群の一例2011
- Author(s)
  石松菜那, 大塚泰史, 岡政史, 佐藤忠司, 濱崎雄平, 青木茂久, 杉本圭相, 竹村司.
- Journal Title
  
  日本小児腎臓病学会雑誌
  
  Volume: 24(2) Pages: 62-66
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Journal Article] A notable case report of May-Hegglin anomaly with immune-complex-related nephropathy: a genetic and histological analysis.2011
- Author(s)
  Ohtsuka Y, Kanaji T, Nishi M, Sakai N, Sato T, Aoki S, Wakayama K, Nakazato S, Hisano S, Sado Y, Kawachi H, Izuhara K, Hamasaki Y
- Journal Title
  
  Clin Nephrol
  
  Volume: 75(3) Pages: 255-62
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Journal Article] A notable case report of May-Hegglin anomaly with immune-complex-related nephropathy: a genetic and histological analysis.2011
- Author(s)
  Ohtsuka Y, Kanaji T, Nishi M, Sakai N, Sato T, Aoki S, Wakayama K, Nakazato S, Hisano S, Sado Y, Kawachi H, Izuhara K, Hamasaki Y.
- Journal Title
  
  Clinical Nephrology
  
  Volume: 75(3) Pages: 255-62
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791186
[Patent] 造血幹細胞移植後の合併症リスクの検出方法、予測診断薬及びキット2020
- Inventor(s)
  大塚泰史/岡村浩史/中前博久/進藤岳郎
- Industrial Property Rights Holder
  大塚泰史/岡村浩史/中前博久/進藤岳郎
- Industrial Property Rights Type
  特許
- Filing Date
  2020
- Data Source
  KAKENHI-PROJECT-18K16700
[Presentation] 超音波で腎臓のサイズを確認しよう!2019
- Author(s)
  大塚泰史
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K16700
[Presentation] アルポート症候群～新たな展開～　アルポート症候群とBardoxolone Methyl2019
- Author(s)
  大塚泰史
- Organizer
  第62回日本腎臓学会
- Data Source
  KAKENHI-PROJECT-18K16700
[Presentation] Beckwith-Wiedemann症候群の原因となる片親性父性ダイソミーの切断点領域の解析．2015
- Author(s)
  大塚泰史、岡岳彦、川原弘三、八木ひとみ、東元健、副島英伸．
- Organizer
  第60回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-25461648
[Presentation] シスチン尿症を伴うゲノムワイド父性片親性ダイソミー症例の遺伝子解析.2013
- Author(s)
  大塚泰史、佐々木健作、城崎幸介、東元健、岡本伸彦、高間勇一、窪田昭男、松本富美中山雅弘、吉浦孝一郎、副島英伸.
- Organizer
  第48回日本小児腎臓病学会学術集会
- Place of Presentation
  日本、徳島
- Data Source
  KAKENHI-PROJECT-25461648
[Presentation] シスチン尿症を伴うゲノムワイド父性片親性ダイソミー症例の遺伝子解析.2013
- Author(s)
  大塚泰史、佐々木健作、城崎幸介、東元健、岡本伸彦、高間勇一、窪田昭男、松本富美、中山雅弘、吉浦孝一郎、副島英伸.
- Organizer
  第58回日本人類遺伝学会.
- Place of Presentation
  日本、宮城
- Data Source
  KAKENHI-PROJECT-25461648
[Presentation] Treatment of cisplatin overdose in pediatric case.2013
- Author(s)
  Yasufumi Ohtsuka, Masafumi Oka, Junya Eto, Masanori Nishi, Yuhei Hamasaki.
- Organizer
  16th congress of the International Pediatric Nephrology Association.
- Place of Presentation
  中華人民共和国（上海）
- Data Source
  KAKENHI-PROJECT-25461648
[Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連.2012
- Author(s)
  大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] 抗Factor H抗体にて発症したatypical HUS (aHUS)の一例2012
- Author(s)
  大塚泰史、岡政史、稲田由紀子、石松菜那、佐藤忠司、濱崎雄平
- Organizer
  長崎佐賀合同地方会
- Place of Presentation
  長崎
- Year and Date
  2012-08-12
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] The relationship between paternal uniparental disomy and clinical features in patients with Beckwith-Wiedemann syndrome.2012
- Author(s)
  Yasufumi Ohtsuka, Kosuke Jozaki, Toshiyuki Maeda, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima.
- Organizer
  American Society of Human Genetics Annual Meeting.
- Place of Presentation
  米国サンフランシスコ
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連2012
- Author(s)
  大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] The relationship between paternal uniparental disomy and clinical features in patients with Beckwith-Wiedemann syndrome2012
- Author(s)
  Yasufumi Ohtsuka, Kosuke Jozaki, Toshiyuki Maeda, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima
- Organizer
  American Society of Human Genetics Annual Meeting
- Place of Presentation
  San Francisco
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連2012
- Author(s)
  大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
- Organizer
  第6回日本エピジェネティック研究会
- Place of Presentation
  東京
- Year and Date
  2012-05-14
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] A case of Senior Loken syndrome with a mutation of NPHP12011
- Author(s)
  Sakai Nana, Ohtsuka Yasufumi, Oka Masafumi, Hamasaki Yuhei, Aoki Shigehisa, Sugimoto Keisuke, Takemura Tsukasa
- Organizer
  日本小児腎臓病学会雑誌
- Place of Presentation
  福岡
- Year and Date
  2011-06-02
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] case of Pseudo-Bartter syndrome in a low birth weight infant caused by the mother's eating disorder.2011
- Author(s)
  Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Egashira Masakazu, Yamaguchi Tomona, Hamasaki Yuhei.
- Organizer
  the 11th Asian congress of pediatric nephrology 2011
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] A case of Pseudo-Bartter syndrome in a low birth weight infant caused by the mother's eating disorder2011
- Author(s)
  Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Egashira Masakazu, Yamaguchi Tomona, Hamasaki Yuhei
- Organizer
  日本小児腎臓病学会雑誌
- Place of Presentation
  福岡
- Year and Date
  2011-06-02
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] An Asian case of Schinzel-Giedion Syndrome with an SETBP1 mutation.2011
- Author(s)
  Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Aoki Shigehisa, Hamasaki Yuhei.
- Organizer
  the 11th Asian congress of pediatric nephrology 2011
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] An Asian case of Schinzel-Giedion Syndrome with an SETBP1 mutation2011
- Author(s)
  Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Aoki Shigehisa, Hamasaki Yuhei
- Organizer
  日本小児腎臓病学会雑誌
- Place of Presentation
  福岡
- Year and Date
  2011-06-02
- Data Source
  KAKENHI-PROJECT-23791186
[Presentation] 小児腎臓医からみた成人腎Fabry病スクリーニング．
- Author(s)
  大塚泰史
- Organizer
  日本小児腎臓病学会
- Place of Presentation
  秋田
- Year and Date
  2014-06-05 – 2014-06-07
- Data Source
  KAKENHI-PROJECT-25461648
[Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連.
- Author(s)
  大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
- Organizer
  第6回日本エピジェネティック研究会.
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791186

1. Soejima Hidenobu (30304885)

# of Collaborated Projects: 1 results

# of Collaborated Products: 8 results
2. Yoshiura Koh-ichiro (00304931)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
3. YATSUKI Hitomi

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
4. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
5. TAKADA Shuji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. MATSUBARA Keiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
7. OHTA Tohru

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 野津寛大

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 飯島一誠

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 中林一彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 東元健

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
12. 山本健

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 柳佑典

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 大賀正一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. 田口智章

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. 古関明彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Ohtsuka Yasufumi 大塚 泰史

OHTSUKA Yasufumi 大塚 泰史

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investigation of the new gene causing congenital anomalies of kidney and urinary tractPrincipal Investigator

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Molecular biological analysis of genome wide paternal uniparental disomyPrincipal Investigator

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The relationship between paternal uniparental disomy and renal-urological features in patients with Beckwith-Wiedemann syndromePrincipal Investigator

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[Book] 小児特発性ネフローゼ症候群 診療ガイドライン2013.2013

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[Journal Article] Alport症候群の診断と治療2019

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[Journal Article] Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan2019

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[Journal Article] ldentification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.2016

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[Journal Article] Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.2015

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[Journal Article] Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY2014

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[Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.2014

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[Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome2014

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[Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome2013

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[Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.2013

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[Journal Article] 抗CFH抗体陽性およびCFHR1遺伝子欠失を伴うDEAP-HUSの1例2013

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[Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験 有効性・安全性、薬物動態の評価.2011

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Ohtsuka Yasufumi 大塚泰史

OHTSUKA Yasufumi 大塚泰史

[Book] 小児特発性ネフローゼ症候群　診療ガイドライン2013.2013

[Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験有効性・安全性、薬物動態の評価.2011

[Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験　有効性・安全性、薬物動態の評価.2011

[Presentation] アルポート症候群～新たな展開～　アルポート症候群とBardoxolone Methyl2019

[Presentation] 抗Factor H抗体にて発症したatypical HUS (aHUS)の一例2012