Pena-Shokeir syndrome type I

ペナ・ショケイア症候群I型

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. a pattern of symptoms indicative of some disease
9. a complex of concurrent things; "every word has a syndrome of meanings"
10. the 9th letter of the Roman alphabet (同)i
11. writing done with a typewriter (同)typewriting

PrepTutorEJDIC

1. 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
2. (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
3. 『私は』私が
4. iodineの化学記号

UpToDate Contents

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• 1. 神経線維腫症I型（NF1）：病因、臨床的特徴、および診断 neurofibromatosis type 1 nf1 pathogenesis clinical features and diagnosis
• 2. 先天性乳児ネフローゼ症候群 congenital and infantile nephrotic syndrome
• 3. 薬物アレルギー：分類および臨床的特徴 drug allergy classification and clinical features
• 4. 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
• 5. 成人における血栓性血小板減少性紫斑病-溶血性尿毒症症候群の原因 causes of thrombotic thrombocytopenic purpura hemolytic uremic syndrome in adults

English Journal

• Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

• Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.SourceWestern Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia. gina.ravenscroft@uwa.edu.au
• Neuromuscular disorders : NMD.Neuromuscul Disord.2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.
• The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.9
• PMID 23218673

• The hypothetical role of congenital hypotonia in the development of early coronoid hyperplasia.

• Puche M, Guijarro-Martínez R, Pérez-Herrezuelo G, Miragall L, Iglesias ME, Martínez-Costa C.SourceDepartment of Oral and Maxillofacial Surgery, Hospital Clínico Universitario of Valencia, 17 Blasco Ibáñez Avenue, 46010 Valencia, Spain.
• Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.J Craniomaxillofac Surg.2012 Sep;40(6):e155-8. doi: 10.1016/j.jcms.2011.08.005. Epub 2011 Aug 30.
• BACKGROUND: Coronoid hyperplasia (CH) is an abnormal bony elongation of a histologically normal coronoid process. Its definitive cause remains unknown.OBJECTIVES: To analyze the possible implication of congenital hypotonia in the pathogenesis of early coronoid overgrowth.PATIENTS AND METHODS: Two in
• PMID 21880499

• Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.

• Chen CP.SourceDepartment of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com
• Taiwanese journal of obstetrics & gynecology.Taiwan J Obstet Gynecol.2012 Mar;51(1):12-7. doi: 10.1016/j.tjog.2012.01.004.
• Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidis
• PMID 22482962

Japanese Journal

• Pena-Shokeir 症候群の3例(I型およびII型)

• 宮城 伸浩,楠田 聡,伊藤 有里,宍田 紀夫,江原 英治,平林 円,金 太章,村田 良輔,小林 庸次
• 日本未熟児新生児学会雑誌 = Journal of Japan Society for Premature and Newborn Medicine 9(2), 189-195, 1997-06-20
• NAID 10016242638

• Prenatal diagnosis of Pena-Shokeir syndrome, type I

• MACMILLAN RH.
• Am J Med Genet 21, 279-284, 1985
• NAID 30001971380

Related Links

• Pena-Shokeir syndrome, type I - definition of Pena-Shokeir ...

arthrogryposis /ar·thro·gry·po·sis/ (ahr″thro-grĭ-po´sis) persistent flexure of a joint. ar·thro·gry·po·sis (är thr-gr-p s s) n. 1. The permanent fixation of a joint in a contracted position. 2. A congenital disorder marked by generalized ...

• Pena-Shokeir syndrome, type I - definition of Pena-Shokeir ...

... type I in the Online Dictionary. Meaning of Pena-Shokeir syndrome, type I. Pronunciation of Pena-Shokeir syndrome, type I. Translations of Pena-Shokeir syndrome, type I. Pena-Shokeir syndrome, type I synonyms, Pena ...

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★リンクテーブル★

リンク元	「ペナ・ショケイア表現型」「ペナ・ショケイア症候群I型」
拡張検索	「Pena-Shokeir syndrome type II」
関連記事	「type」「I」「Id」「typed」「typing」

「ペナ・ショケイア表現型」

　　[★]

英

Pena-Shokeir phenotype

同

ペナ-ショケイア症候群I型 Pena-Shokeir syndrome type I

「ペナ・ショケイア症候群I型」

　　[★]

英

Pena-Shokeir syndrome type I

関

ペナ・ショケイア表現型

「Pena-Shokeir syndrome type II」

　　[★] ペナ・ショケイア症候群II型

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関

form、mode、pattern、type specimen、typed

　 　 　 　 　 　 　 　

「I」

　　[★]

• イソロイシン isoleucine
• イノシン inosine
• 阻害剤 inhibitor
• iodine
• ヨード iodide
• I因子 factor I

　 　 　

「Id」

　　[★]

• イディオタイプ idiotype idiotypic
• inhibitor of DNA binding

「typed」

　　[★]

• adj.

• 型の

関

form、mode、pattern、type

「typing」

　　[★]

• n.

• タイプで打つこと、タイピング。分類