2011 Fiscal Year Final Research Report
Research on validity and utility of molecular genetic testing.
| Project/Area Number |
21590624
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Kyoto University |
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Principal Investigator |
KOSUGI Shinji 京都大学, 医学研究科, 教授 (50252432)
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| Co-Investigator(Renkei-kenkyūsha) |
KOSAKI Kenjiro 慶應義塾大学, 医学部, 教授 (30234743)
SAKURAI Akihiro 信州大学, 医学部, 准教授 (70262706)
SUGANO Koukichi 慶應義塾大学, 医学部, 客員准教授 (00171124)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 遺伝子検査学 / 遺伝学的検査 |
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| Research Abstract |
Best practice guidelines for conducting molecular genetic testing of rare genetic diseases were made with the committee for standarization of genetic tests in the JSHG(Japanese Society of Human Genetics). Further, Japanese best practice guidelines for gene-related tests were also made with JCCLS(Japanese Committee for Clinical Laboratory Standards) according to OECD GUIDELINES FOR QUALITY ASSURANCE IN MOLECULAR GENETIC TESTING(2007).
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Research Products
(66 results)
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[Journal Article] Multiple Endocrine Neoplasia Type 1in Japan : Establishment and Analysis of a Multicenter Database2012
Author(s)
Sakurai, Akihiro ; Suzuki, Shinichi ; Kosugi, Shinji ; Okamoto, Takahiro ; Uchino, Shinya ; Miya, Akihiro ; Imai, Tsuneo ; Kaji, Hiroshi ; Komoto, Izumi ; Miura, Daishu ; Yamada, Masanobu ; Uruno, Takashi ; Horiuchi, Kiyomi
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Journal Title
European Review for Medical and Pharmacological Sciences
Volume: 76(4)
Pages: 533-539
DOI
Peer Reviewed
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[Journal Article] The current status of umbilical cord blood collection in Japanese medical centers : survey of obstetricians2011
Author(s)
Tada N, Hinotsu S, Urushihara H, Kita F, Kai S, Takahashi TA, Kato S, Takanashi M, Ito K, Sawai H, Maekawa T, Kosugi S, and Kawakami K
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Journal Title
Transfusion and Apheresis Science
Volume: 44
Pages: 263-268
Peer Reviewed
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[Journal Article] 遺伝性非ポリポーシス大腸癌と診断された原発生小腸二重癌の1例2009
Author(s)
本城弘貴, 武田佳久, 安田誠一, 西川忠男, 寺村康史, 馬場重樹, 山田英二, 小杉眞司, 鳥嶋雅子, 菅野康吉, 橋田修平, 赤松信
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Journal Title
消化器外科
Volume: 32(12)
Pages: 1911-1917
URL
Peer Reviewed
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[Journal Article] Evaluation of the End-of-Life Nursing Education Consortium-Japan Faculty Development Program : Validity and Reliability of the' End-of-Life Nursing Education Questionnaire'
Author(s)
Sayaka Takenouchi, MPH ; Mitsunori Miyashita, RN, MS, PhD ; Keiko Tamura, RN, MS, OCNS, PhD ; Yoshiyuki Kizawa, MD ; Shinji Kosugi, MD, PhD
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Journal Title
The Journal of Hospice and Palliative Nursing
Volume: (in press)
Peer Reviewed
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[Presentation] 遺伝医療と倫理2011
Author(s)
小杉眞司
Organizer
第2回遺伝医学セミナー入門コース
Place of Presentation
千里ライフサイエンスセンター(吹田市)
Year and Date
2011-02-13
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[Presentation] Process to the diagnosis of multiple endocrineneoplasia type 1 in Japanese patients2010
Author(s)
M Yamazaki, S Kosugi, S Uchino, S Suzuki, T Okamoto, T Imai, H Kaji, M Yamada, S Hirakawa, A Sato, A Sakurai
Organizer
MEN Consortium of Japan
Place of Presentation
MEN Consortium of Japan
Year and Date
20100000
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