PGD

作品数：185被引量：441H指数：9
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相关领域：医药卫生更多>>
相关作者：黄荷凤徐艳文金帆孙莹璞乔杰更多>>
相关机构：中南大学中山大学附属第一医院国家工程研究中心北京大学第三医院更多>>
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相关基金：国家自然科学基金国家高技术研究发展计划河南省卫生科技创新型人才工程湖南省自然科学基金更多>>
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Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation被引量：5
《Science China(Life Sciences)》2019年第7期886-894,共9页Wei Guo Yanli Nie Zhiqiang Yan Xiaohui Zhu Yuqian Wang Shuo Guan Ying Kuo Wenxin Zhang Xu Zhi Yuan Wei Liying Yan Jie Qiao 
supported by the National Natural Science Foundation of China(31522034,81521002,81730038);the National High Technology Research and Development Program(2015AA020407)
Birth defects are caused by multiple factors,such as chromosome abnormality,environmental factors,and maternal factors.In this study,we focused on exploring the genetic causes of a non-consanguineous couple who suffer...
关键词：UNEXPLAINED RECURRENT fetal MALFORMATIONS whole EXOME sequencing (WES) PREIMPLANTATION genetic diagnosis (PGD) Schaaf-Yang syndrome 
Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment被引量：17
《Science China(Life Sciences)》2015年第9期829-838,共10页XIONG WenPing WANG DaYong GAO Yuan GAO Ya WANG HongYang GUAN Jing LAN Lan YAN JunHao ZONG Liang YUAN Yuan DONG Wei HUANG SeXin WU KeLiang WANG YaoShen WANG ZhiLi PENG HongMei LU YanPing XIE LinYi ZHAO Cui WANG Li ZHANG QiuJing GAO Yun LI Na YANG Ju YIN ZiFang HAN Bing WANG Wei CHEN Zi-Jiang WANG QiuJu 
supported by the National Program on Key Basic Research Project(2014CB943001 and 2012CB944700);the National Natural Science Foundation of China(81120108009 and 81530032);the National Health and Family Planning Commission of the People's Republic of China(201402004);Science and Technology Plan of Guangdong Province(2013B022000005);Guangdong Enterprise Key Laboratory of Human Disease Genomics(2011A060906007);Shenzhen Engineering Laboratory for Birth Defects Screening([2011]861)
A couple with a proband child of GJB2 （encoding the gap junction protein connexin 26）-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Ou...
关键词：preimplantation genetic diagnosis(PGD) noninvasive prenatal testing(NIPT) noninvasive prenatal diagnosis(NIPD) GJB2(encoding the 
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