シュワルツ・ヤンペル症候群、Schwartz-Jampel症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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- 1. 先天性および後天性ＱＴ延長症候群の遺伝学 genetics of congenital and acquired long qt syndrome
- 2. 筋電図検査の概要 overview of electromyography
- 3. 計算ツール：Schwartz計算式による糸球体濾過率の推定 calculator glomerular filtration rate estimate by schwartz formula
- 4. 糸球体疾患を有する小児の評価 evaluation of a child with glomerular disease
- 5. 先天性QT延長症候群の臨床的特徴 clinical features of congenital long qt syndrome
English Journal
- Characterization of the bone phenotype and fracture repair in osteopetrotic incisors absent rats.
- McDonald MM, Morse A, Peacock L, Mikulec K, Schindeler A, Little DG.SourceOrthopaedic Research & Biotechnology Unit, The Children's Hospital at Westmead, Sydney, Australia. michelm9@chw.edu.au
- Journal of orthopaedic research : official publication of the Orthopaedic Research Society." abstractLink="yes" alsec="jour" alterm="J Orthop Res.2011 May;29(5):726-33. doi: 10.1002/jor.21293. Epub 2010 Dec 3.
- Osteopetrotic patients possess a genetic condition that leads to a deficiency in osteoclast number or function. Patients have a high bone density and suffer from an increased risk of fracture. The lack of normal osteoclast activity has the potential to impede repair by complicating orthopedic fixati
- PMID 21437952
- Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
- Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ.SourceMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. pleasantine.mill@hgu.mrc.ac.uk
- American journal of human genetics." abstractLink="yes" alsec="jour" alterm="Am J Hum Genet.2011 Apr 8;88(4):508-15.
- Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function
- PMID 21473986
Japanese Journal
- 発生や疾患を制御する多機能細胞外マトリックス,パールカンの機能解明(<特集>医学研究のUP-TO-DATE)
- 平澤(有川) 恵理
- 順天堂医学 54(1), 25-28, 2008-03
- ノックアウトマウスの作成,解析により,基底膜型のヘパラン硫酸プロテオグリカンであるパールカンの発生や疾患における多機能性が示された.また,遺伝子解析から2つの予後の異なる疾患がパールカン遺伝子変異による疾患として同定された.今後,動脈硬化や糖尿病などの疾患においてもパールカンの役割が解明されていくと考えられる.
- NAID 110007125189
- Schwartz-Jampel症候群を合併した小児の麻酔経験
- 大上 智誉,西本 雅彦,北浦 道夫 [他]
- 麻酔 53(7), 782-784, 2004-07
- NAID 40006340085
Related Links
- 1 Feb 2012 ... Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different inherited, autosomal recessive conditions, sometimes termed SJS type I and SJS type II. Both are very rare. SJS type I has 2 recognized subtypes, IA and IB ...
- Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness ( myotonic myopathy); abnormal bone development (bone dysplasia); permanent ...
Related Pictures
★リンクテーブル★
| リンク元 | 「シュワルツ・ヤンペル症候群」「Melnick-Needles syndrome」 |
| 関連記事 | 「syndrome」 |
「シュワルツ・ヤンペル症候群」
- 英
- Schwartz-Jampel syndrome
- 同
- シュワルツ症候群 Schwartz syndrome、筋強直性軟骨ジストロフィー myotonic chondrodystrophy
- 関
- 骨軟骨形成異常、多発性骨端異形成症、脊椎骨端異形成症、軟骨形成不全症、Schwartz-Jampel症候群、メルニック・ニードルズ症候群、全身性皮質性骨化過剰症
- dyschondroplasia、hyperostosis corticalis generalisata、Melnick-Needles syndrome、multiple epiphyseal dysplasia、osteochondrodysplasia、spondyloepiphyseal dysplasia
- 骨形成不全と筋強直を伴う遺伝性疾患
参考
- 1. Congenital blepharophimosis associated with a unique generalized myopathy.
- SCHWARTZ O, JAMPEL RS.
- Archives of ophthalmology.Arch Ophthalmol.1962 Jul;68:52-7.
- PMID 13909723
「Melnick-Needles syndrome」
メルニック・ニードルズ症候群、Melnick-Needles症候群
- 関
- dyschondroplasia、hyperostosis corticalis generalisata、multiple epiphyseal dysplasia、osteochondrodysplasia、Schwartz-Jampel syndrome、spondyloepiphyseal dysplasia
「syndrome」
- n.