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浏览/检索结果: 共11条，第1-10条 帮助 限定条件 专题：中南大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Epidemiology of Birth Defects Based on a Birth Defect Surveillance System from 2005 to 2014 in Hunan Province, China 期刊论文 PLOS ONE, 2016, 卷号: 11, 期号: 1, 页码: e0147280 作者:  Xie, Donghua*;  Yang, Tubao*;  Liu, Zhiyu;  Wang, Hua 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/03 Infants,Congenital anomalies,Birth,Cleft lip and palate,Cleft lip,Birth defects,Cleft palate,Heart rate   Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome 期刊论文 Gene, 2015, 卷号: 571, 期号: 1, 页码: 142-144 作者:  Zhu, Xin;  Dai, Fu-Rong;  Wang, Jian;  Zhang, Yu;  Tan, Zhi-Ping 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03 BCL-6 interacting repressor  Congenital heart defect  Dextrocardia  LMS  Lenz microphthalmia syndrome  OFCD syndrome   A novel mutation of GATA4 (K300T) associated with familial atrial septal defect 期刊论文 Gene, 2015, 卷号: 575, 期号: 2, 页码: 473-477 作者:  Chen, Jia;  Qi, Bingyang;  Zhao, Juan;  Liu, Wei;  Duan, Ranhui* 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/03 CHD  congenital heart diseases  ToF  tetralogy of Fallot  ASD  atrial septal defect  VSD  ventricular septal defect  AVSD  atrioventricular septal defect  DCM  dilated cardiomyopathy  HGMD  human gene mutation database  dbSNP  database of Single Nucleotide Polymorphisms  EVSD  Exome Variant Server Database  NLS  nuclear localization signal  SNP  Single nucleotide polymorphism  GATK  Genome Analysis Toolkit  PolyPhen-2  Polymorphism Phenotyping v2  SIFT  Sorting Intolerant From Tolerant  TAD  transcription activation domain  N-Znf  N-terminal zinc finger  C-Znf  C-terminal zinc finger  Ventricular septal defect  Incomplete penetrance  Whole exome sequencing  Post-translational modification  Methylation   Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11 期刊论文 Molecular Cytogenetics, 2014, 卷号: 7, 期号: 1, 页码: 28 作者:  Chen, Jin-Lan;  Zhu, Xin;  Zhao, Tian-Li;  Wang, Jian;  Yang, Yi-Feng 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/03 10q25.2 deletion  12q24 duplication  CNV  Congenital heart defect  Copy number variation  Noonan syndrome  PTPN11  RASopathy  SHOC2   A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect 期刊论文 Journal of Zhejiang University. Science B, Biomedicine & Biotechnology, 2014, 卷号: 15, 期号: 9, 页码: 830-837 作者:  Liu Jijia;  Fan Liangliang;  Chen Jinlan;  Tan Zhiping;  Yang Yifeng 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/03 Congenital heart disease (CHD)  Atrial septal defect (ASD)  Whole-exome sequencing  CHD-related gene filter  TBX20   A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis 期刊论文 Gene, 2014, 卷号: 534, 期号: 2, 页码: 320-323 作者:  Xiang, Rong;  Fan, Liang-Liang;  Huang, Hao;  Cao, Bei-Bei;  Li, Xiang-Ping 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03 CHD  congenital heart defects  PS  pulmonary valve stenosis  polyphen2  polymorphism phenotyping  SIFT  Sorting Intolerant From Tolerant  dbSNP  Single Nucleotide Polymorphism Database  ASD  atrial septal defect  VSD  ventricular septal defect  TOF  tetralogy of Fallot  HRV  hypoplastic right ventricle  TAPVR  total anomalous pulmonary venous retour  NLS  nuclear localization signals  SNP  single nucleotide polymorphism  PCR  polymerase chain reaction  Congenital heart disease  Atrial septal defect  ASD  GATA4  Transcription factor   A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: Additional support for a CHD locus at distal 13q34 region 期刊论文 Gene, 2013, 卷号: 528, 期号: 1, 页码: 51-54 作者:  Yang, Yi-Feng;  Ai, Qi;  Huang, Can;  Chen, Jin-Lan;  Wang, Jian 收藏  |  浏览/下载：13/0  |  提交时间：2019/12/03 13q deletion syndrome  13q34 deletion  Congenital heart defect  Copy number variation  Microdeletion  Postaxial polydactyly   576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy. 期刊论文 Gene, 2013, 卷号: 528, 期号: 2, 页码: 352-355 作者:  Zhu, Xin;  Zhang, Yi;  Wang, Jian;  Yang, Jin-Fu;  Yang, Yi-Feng 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03 1p36 deletion  ASD  CHD  CNV  CT  Congenital heart defect  Copy number variation  DGV  Database of Genomic Variants  Epilepsy  Hg19  OMIM  Online Mendelian Inheritance in Man  PCR  SGS  SNP  SNP array  Shprintzen-Goldberg syndrome  atrial septal defect  computed tomography  congenital heart defects  copy number variation  human genome 19  polymerase chain reaction  single nucleotide polymorphism   Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle 期刊论文 Clinical Genetics, 2012, 卷号: 82, 期号: 5, 页码: 466-471 作者:  Tan, Z-P;  Huang, C.;  Xu, Z-B;  Yang, J-F;  Yang, Y-F* 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/03 congenital heart defect  double outlet right ventricle  FOG2  mutation  ZFPM2   Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion 期刊论文 Gene, 2012, 卷号: 498, 期号: 2, 页码: 308-310 作者:  Huang, Can;  Yang, Yi-Feng;  Yin, Ni;  Chen, Jin-Lan;  Wang, Jian 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03 13q deletion syndrome  Congenital heart defect  Copy number variation  Microdeletion  Single-nucleotide polymorphism array