ベックウィズ・ウィーデマン症候群
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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English Journal
- Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.
- Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T.SourceDepartment of Informative Genetics, Environment and Genome Research Center, Tohoku University Graduate School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai 980-8575, Japan.
- Human reproduction (Oxford, England).Hum Reprod.2012 Aug;27(8):2541-8. Epub 2012 Jun 6.
- BACKGROUND There is an increased incidence of rare imprinting disorders associated with assisted reproduction technologies (ARTs). The identification of epigenetic changes at imprinted loci in ART infants has led to the suggestion that the techniques themselves may predispose embryos to acquire impr
- PMID 22674207
- Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.
- Segers H, Kersseboom R, Alders M, Pieters R, Wagner A, van den Heuvel-Eibrink MM.SourceDepartment of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
- European journal of cancer (Oxford, England : 1990).Eur J Cancer.2012 Jul 13. [Epub ahead of print]
- INTRODUCTION: In 9-17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic abnormaliti
- PMID 22796116
Japanese Journal
- 高松 一郎
- 日本耳鼻咽喉科學會會報 99(1), 91-102, 1996-01-20
- … The characteristic symptoms of bilateral vocal cord paralysis include normal or near normal phonation with inspiratory stridor which may progress to complete respiratory obstruction.<BR>Associated anomalies and diseases inclded 3 cases of immature infant, 2 of myelomeningocele, and single cases of Arnold-Chiari malformation, cerebral palsy, hydrocephalus, laryngomalacia, William's syndrome. …
- NAID 10006825881
- Longitudinal Observations on 15 Children With Wiedemann-Beckwith Syndrome
- Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome
Related Links
- Beckwith-Wiedemann 症候群. ・疾患の概要. Beckwith-Widemann 症候群 (BWS)は 、臍帯脱出(E)・巨舌(M)・巨体(G)を主徴とする常染色体劣性遺伝病.症状の頭文字を 合わせてEMG症候群ともいわれる.少数例でウィルムス腫瘍などの悪性腫瘍を合併 ...
- Beckwith–Wiedemann syndrome is an overgrowth disorder usually (but not always) present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr. Hans-Rudolf Wiedemann coined the ...
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- 英
- Beckwith-Wiedemann syndrome Wiedemann-Beckwith syndrome BWS
- 同
- Beckwith-Wiedemann症候群、ベックウィズ・ウィーデマン症候群
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概念
病因
病態
遺伝形式
参考
- 1. BECKWITH-WIEDEMANN SYNDROME; BWS; BWS - OMIM
- http://omim.org/entry/130650
- http://www.ncnp.go.jp/nin/guide/r2/genedigmanu_html/BWS.html
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