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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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 遺伝子検査学 / 遺伝学的検査 / 分析的妥当性 / 稀少疾患 / 臨床的妥当性 / 臨床的有用性 / 精度管理 |
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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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Report
(4 results)
Research Products
(111 results)
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[Journal Article] Multiple Endocrine Neoplasia Type 1 in Japan: Establishment and Analysis of a Multicenter Database.2012
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
Clinical Endocrinology
Volume: 76(4)
Pages: 533-539
DOI
Related Report
Peer Reviewed
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[Journal Article] Multiple Endocrine Neoplasia Type 1 in 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; Miyauchi, Akira; Imamura, Masayuki
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Journal Title
Clinical Endocrinology
Volume: 76
Pages: 533-539
Related Report
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'2012
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)
Related Report
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
Related Report
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
Related Report
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肉腸二重癌の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, 島嶋雅子, 菅野康吉, 橋田修平, 赤松信
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Journal Title
消化器外科 32 : (12)
Pages: 1911-1917
Related Report
Peer Reviewed
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[Journal Article]2009
Author(s)
Shinji Kosugi
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Journal Title
Clinical Application of Molecular Diagnosis-Cancer, Radiation Effects, and Human Diseases-2009 (Eds. Eiso Hiyama and Keiko Hiyama)(Ethical Problems and genetic counseling for gene tests.)
Pages: 1-220
Related Report
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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)
Related Report
Peer Reviewed
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[Journal Article] The current status of umbilical cord blood collection in Japanese medical centers : survey of obstetricians
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, Kawakami K
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Journal Title
Transfusion and Apheresis Science
Volume: (印刷中)
Related Report
Peer Reviewed
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[Presentation] 小学校で使う遺伝教材2011
Author(s)
中川奈保子、沼部博直、小杉眞司
Organizer
遺伝医学合同学術集会2011
Place of Presentation
京都、京都大学百周年時計台記念館
Year and Date
2011-06-19
Related Report
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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
Related Report
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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
Related Report
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[Presentation] Process to the diagnosis of multiple endocrine neoplasia type 1 in Japanese patients.2010
Author(s)
M Yamazaki, S Kosugi, S Uchino, S Suzuki, T Okamoto, T Imai, H Kaji, M Yamada, S Hirakawa, A Sato, A Sakurai, MEN Consortium of Japan.
Organizer
The 92th annual meeting of the Endocrine Society.
Place of Presentation
San Diego, USA
Related Report
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[Presentation] 分子遺伝学的検査2010
Author(s)
小杉眞司
Organizer
第1回遺伝カウンセリング研修会
Place of Presentation
京都大学医学部(京都市)
Year and Date
2010-08-21
Related Report
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