Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects

Ramachandran Dhanya; Mulle Jennifer G.; Locke Adam E.; Bean Lora J. H.; Rosser Trade C.; Bose Promita; Dooley Kenneth J.; Cua Clifford L.; Capone George T.; Reeves Roger H.; Maslen Cheryl L.; Cutler David J.; Sherman Stephanie L.; Zwick Michael E.

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Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects

机译：拷贝数变异对唐氏综合症相关房室间隔缺损的贡献

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Purpose: The goal of this study was to identify the contribution of large copy-number variants to Down syndrome associated atrioventricular septal defects, the risk for which in the trisomic population is 2,000-fold more as compared with that of the general disomic population.

机译：目的：本研究的目的是确定大拷贝数变异对唐氏综合症相关房室间隔缺损的影响，与三体人群相比，三体人群的患病风险高2,000倍。

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《Genetics in medicine》 |2015年第7期|共7页
作者
Ramachandran Dhanya; Mulle Jennifer G.; Locke Adam E.; Bean Lora J. H.; Rosser Trade C.; Bose Promita; Dooley Kenneth J.; Cua Clifford L.; Capone George T.; Reeves Roger H.; Maslen Cheryl L.; Cutler David J.; Sherman Stephanie L.; Zwick Michael E.;
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正文语种 eng
中图分类医学遗传学;
关键词
atrioventricular septal defects; ciliome; congenital heart defect; copy-number variation; Down syndrome;

机译：房室间隔缺损;纤毛虫;先天性心脏缺损;拷贝数变异;唐氏综合症;

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1. Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects [J] . Ramachandran Dhanya, Mulle Jennifer G., Locke Adam E., Genetics in medicine . 2015,第7期

机译：拷贝数变异对唐氏综合症相关房室间隔缺损的贡献
2. EDUCATIONAL SERIES IN CONGENITAL HEART DISEASE: Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct [J] . Antigoni Deri, Kate English Echo Research and Practice . 2018,第1期

机译：先天性心脏病的教育系列：左至右分流的超声心动图评估：房间隔缺损，室间隔缺损，房室间隔缺损，动脉导管未闭
3. Shunt Lesions Part I: Patent Ductus Arteriosus, Atrial Septal Defect, Ventricular Septal Defect, and Atrioventricular Septal Defect [J] . Backer Carl L., Eltayeb Osama, Monge Michael C., Pediatric critical care medicine: a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies . 2016,第8Suppla期

机译：分流病变第一部分：动脉导管未闭，房间隔缺损，室间隔缺损和房室间隔缺损
4. Atrial rate variations in atrioventricular block patients: influences of ventricular rate and atrioventricular delay [C] . Chiu, H.W., Kao, . 1999

机译：房室传导阻滞患者的心房率变化：心室率和房室延迟的影响
5. Non-syndromic atrioventricular septal defects: A refined definition, associated risk factors, and prognostic factors for left atrioventricular valve replacement following primary repair. [D] . Patel, Sonali Subhashchandra. 2010

机译：非综合征性房室间隔缺损：初次修复后左房室瓣膜置换的精确定义，相关危险因素和预后因素。
6. Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects [O] . Dhanya Ramachandran, Jennifer G. Mulle, Adam E. Locke, -1

机译：拷贝数变异对唐氏综合症相关房室间隔缺损的贡献
7. Caso 1/2009: lactente de um ano e nove meses com defeito do septo atrioventricular parcial, composto por comunicação interatrial e insuficiência tricúspide Caso 1/2009: lactante de 1 año y 9 meses con defecto del septo atrioventricular parcial, compuesto por comunicación interatrial e insuficiencia tricúspide Case 1/2009: 21-month-old infant with partial atrioventricular septal defect, consisting of atrial septal defect and tricuspid insufficiency [O] . Edmar Atik 2009

机译：病例1/2009：1岁9个月的房室部分缺损，由房间隔缺损和三尖瓣衰竭组成病例1/2009：1岁9个月的房室部分缺损，由房间隔沟通和房颤构成三尖瓣关闭不全病例1/2009：21岁的房室间隔缺损部分，由房间隔缺损和三尖瓣关闭不全组成

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects

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