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中南大学 [13]

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期刊论文 [13]

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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

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	Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort 期刊论文 SCIENTIFIC REPORTS, 2017, 卷号: 7, 页码: 44155 作者: Guo, Hui; Peng, Yu; Hu, Zhengmao; Li, Ying; Xun, Guanglei 收藏 \| 浏览/下载：4/0 \| 提交时间：2019/12/03
	Rare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia 期刊论文 PLOS ONE, 2014, 卷号: 9, 期号: 5, 页码: e96471 作者: Xie, Li; Chen, Jin-Lan; Zhang, Wei-Zhi; Wang, Shou-Zheng; Zhao, Tian-Li 收藏 \| 浏览/下载：4/0 \| 提交时间：2019/12/03 Twins,Congenital heart defects,Human genetics,Copy number variation,Polymerase chain reaction,Cobalamins,Dizygotic twins,Genome analysis
	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
	Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes 期刊论文 The Journal of molecular diagnostics : JMD, 2014, 卷号: 16, 期号: 5, 页码: 519-526 作者: Liang, Desheng; Peng, Ying; Lv, Weigang; Deng, Linbei; Zhang, Yanghui 收藏 \| 浏览/下载：38/0 \| 提交时间：2019/12/03
	A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel Sequencing 期刊论文 PLOS ONE, 2013, 卷号: 8, 期号: 1, 页码: e54236 作者: Zhang, Chunlei; Zhang, Chunsheng; Chen, Shengpei; Yin, Xuyang; Pan, Xiaoyu 收藏 \| 浏览/下载：1/0 \| 提交时间：2019/12/03 Genome sequencing,Karyotypes,Signal filtering,Comparative genomics,Blastocysts,Genomic library construction,Algorithms,Bioinformatics
	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
	Disruption of Contactin 4 in two subjects with autism in Chinese population 期刊论文 Gene, 2012, 卷号: 505, 期号: 2, 页码: 201-205 作者: Guo, Hui; Xun, Guanglei; Peng, Yu; Xiang, Xinying; Xiong, Zhimin 收藏 \| 浏览/下载：7/0 \| 提交时间：2019/12/03 CNTN4 Contactin 4 ASD autism spectrum disorder CNV copy number variation CDD childhood disintegrative disorder PDD-NOS pervasive developmental disorder-not otherwise specified CARS Childhood Autism Rating Scale FISH fluorescence in situ hybridisation ARNSMR autosomal recessive nonsyndromal mental retardation Autism Contactin 4 (CNTN4) Copy number variation (CNV) Axon connection
	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
	Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome 期刊论文 American Journal of Medical Genetics Part A, 2012, 卷号: 158A, 期号: 8, 页码: 1918-1923 作者: Luo, Cheng; Yang, Yi-Feng; Yin, Bang-Liang; Chen, Jin-Lan; Huang, Can 收藏 \| 浏览/下载：2/0 \| 提交时间：2019/12/03 Noonan syndrome Noonan syndrome with multiple lentigines RAF1 PTPN11 duplication 3p25.2 SNP array dosage sensitive gene copy number variation CNV congenital heart defect

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