『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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登録内容 (EID=166278)

EID=166278EID:166278, Map:0, LastModified:2015年11月26日(木) 17:00:10, Operator:[三木 ちひろ], Avail:TRUE, Censor:0, Owner:[安井 夏生], Read:継承, Write:継承, Delete:継承.
種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
招待 (推奨):
審査 (推奨):
カテゴリ (推奨):
共著種別 (推奨):
学究種別 (推奨):
組織 (推奨): 1.徳島大学.大学院ヘルスバイオサイエンス研究部 (2004年4月1日〜2015年3月31日) [継承]
著者 (必須): 1.高橋 光彦
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貢献度 (任意):
学籍番号 (推奨):
[継承]
2.松井 好人
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貢献度 (任意):
学籍番号 (推奨):
[継承]
3. (英) Goto Tomohiro (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
4. (英) Nishimura Gen (日) (読)
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学籍番号 (推奨):
[継承]
5. (英) Ikegawa Shiro (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
6. (英) Ohashi Hirofumi (日) (読)
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学籍番号 (推奨):
[継承]
7.安井 夏生
役割 (任意):
貢献度 (任意):
学籍番号 (推奨):
[継承]
題名 (必須): (英) Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)  (日)    [継承]
副題 (任意):
要約 (任意): (英) We describe a Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) showing significant phenotypic diversity among the five affected members. Genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3. The proband was a 9-year-old boy, who presented with ulnar club hands due to severe epiphyseal dysplasia in the distal ulnae. Radiological examination showed multiple epiphyseal dysplasias, predominantly involving the knee and the wrist. The hip appeared almost normal. The malalignment of the wrist was successfully treated with a limb lengthening procedure. The phenotype of the asymptomatic 12-year-old brother was similar to, but milder than, that of the proband. The asymptomatic 39-year-old mother, the 35-year-old uncle, and the 65-year-old grandmother with bilateral painful knees showed radiographically mild and severe osteoarthritis of the knee, respectively, and none of them had wrist deformity.  (日)    [継承]
キーワード (推奨): 1. (英) Base Sequence (日) (読) [継承]
2.子ども (children) [継承]
3. (英) Collagen Type IX (日) (読) [継承]
4. (英) Disease Progression (日) (読) [継承]
5.家族 (family) [継承]
6. (英) Hand Deformities, Congenital (日) (読) [継承]
7. (英) Humans (日) (読) [継承]
8.日本 (Japan) [継承]
9. (英) Male (日) (読) [継承]
10. (英) Molecular Sequence Data (日) (読) [継承]
11. (英) Mutation (日) (読) [継承]
12. (英) Osteochondrodysplasias (日) (読) [継承]
13. (英) Pedigree (日) (読) [継承]
14. (英) Phenotype (日) (読) [継承]
15. (英) Ulna (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Clinical Rheumatology (The International League of Associations for Rheumatology)
(pISSN: 0770-3198, eISSN: 1434-9949)

ISSN (任意): 0770-3198
ISSN: 0770-3198 (pISSN: 0770-3198, eISSN: 1434-9949)
Title: Clinical rheumatology
Title(ISO): Clin Rheumatol
Supplier: Springer Online Journal Archive
Publisher: Springer London
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
[継承]
[継承]
(必須): 25 [継承]
(必須): 4 [継承]
(必須): 591 595 [継承]
都市 (任意):
年月日 (必須): 西暦 2006年 1月 1日 (平成 18年 1月 1日) [継承]
URL (任意):
DOI (任意): 10.1007/s10067-005-0034-z    (→Scopusで検索) [継承]
PMID (任意): 16440132    (→Scopusで検索) [継承]
NAID (任意):
WOS (任意): 000238817400044 [継承]
Scopus (任意): 2-s2.0-33746478034 [継承]
評価値 (任意):
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指導教員 (推奨):
備考 (任意): 1.(英) Article.Affiliation: Department of Orthopaedics, Institute of Health Biosciences , the University of Tokushima Graduate School, 3-18-15Kuramoto, 770-8503, Tokushima, Japan. ymatsui@sb4.so-net.ne.jp  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Case Reports  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]

標準的な表示

和文冊子 ● Mitsuhiko Takahashi, Yoshito Matsui, Tomohiro Goto, Gen Nishimura, Shiro Ikegawa, Hirofumi Ohashi and Natsuo Yasui : Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2), Clinical Rheumatology, Vol.25, No.4, 591-595, 2006.
欧文冊子 ● Mitsuhiko Takahashi, Yoshito Matsui, Tomohiro Goto, Gen Nishimura, Shiro Ikegawa, Hirofumi Ohashi and Natsuo Yasui : Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2), Clinical Rheumatology, Vol.25, No.4, 591-595, 2006.

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