The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome

Joy M. Samanich; Terry L. Levin; Walter E. Berdon

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The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome

机译：家族性上瓣主动脉瓣狭窄（艾森伯格综合征）和威廉姆斯·布伦综合征之间的临床和遗传区别

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来源
《Pediatric Radiology》 |2012年第10期|p.1|共1页
作者
Joy M. Samanich; Terry L. Levin; Walter E. Berdon;
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作者单位

Department of Genetics, Montefiore Medical Center, Bronx, NY, USA;

Department of Radiology, Montefiore Medical Center, 714 Forest Ave., Mamaroneck, NY, 10543, USA;

Department of Radiology, Columbia Presbyterian Medical Center, New York, NY, USA;

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1. The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome [J] . SamanichJ.M., LevinT.L., BerdonW.E. Pediatric radiology . 2012,第10期

机译：家族性上瓣主动脉瓣狭窄（艾森伯格综合征）和威廉姆斯·布伦综合征之间的临床和遗传区别
2. Modeling Cardiovascular Disease in Supravalvular Aortic Stenosis and Williams-Beuren Syndrome Using Human Induced Pluripotent Stem Cells [J] . Qyang Yibing Circulation research: a journal of the American Heart Association . 2012,第12期

机译：使用人类诱导的多能干细胞对瓣膜上主动脉瓣狭窄和Williams-Beuren综合征的心血管疾病进行建模
3. Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening. [J] . María Martín, Sandra Secades, Ana M Plasencia, International Journal of Cardiology . 2014,第2期

机译：瓣膜上主动脉瓣狭窄是一种非综合征性家族性疾病。家族筛查的相关性。
4. Severe systolic dysfunction is a good predictor of developing acute coronary syndrome in patients with degenerative aortic stenosis. [C] . Pop C., Dan D., Petris A., International Congress on Coronary Artery Disease . 2009

机译：严重的收缩功能障碍是在退行性主动脉狭窄患者中发育急性冠状动脉综合征的良好预测因子。
5. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis [D] . Hayano Satoshi, 早野聡 2019

机译：家族性上瓣主动脉狭窄中弹性蛋白的频繁基因内微缺失
6. Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome [O] . Zsolt Urbán, Sheila Riazi, Thomas L. Seidl, 2002

机译：弹性瓣膜功能不全与上瓣主动脉瓣狭窄和威廉姆斯-布伦综合征患者的细胞增殖之间的联系
7. The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome [O] . Joy M. Samanich, Terry L. Levin, Walter E. Berdon 2012

机译：家族性Supravalularbularbulary entenosis（艾森伯格综合征）与威廉姆斯 - Beuren综合征之间的临床和遗传区别

The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome

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