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Rapid and direct quantitative assay to determine gene copy number using multiplex nested real-time q
[会议论文] 作者：Wan-Jun Zhou,Wei-Yu Liu,Dun Liu,Ze-Yan Zhong,Xiang-Min Xu,
来源：中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议 年份：2012
More and more evidence reveals copy number variants(CNVs)have great relevance to common human diseases.For α-thalassemia,there exists a typical relationship between clinical phenotypes and genotypes i...
Rapid simultaneous genotyping of polymorphisms in ADH1B and ALDH2 using high resolution melting assa
[会议论文] 作者：Xiao-Wen Yuan,Wan-Jun Zhou,Xuan Shang,Liang Li,Yan-Hui Liu,Xiang-Min Xu,
来源：第十二次全国医学遗传学学术会议 年份：2013
Background: Alcohol dehydrogenase-1B (ADH1B) and aldehyde dehydrogenase-2 (ALDH2) are important enzymes in human alcohol metabolism.The genetic polymorphisms of ADH1B 143G>A (ADH1B*1/ADH1B*2) and ALDH...
[会议论文] 作者：Li-Hua Yu,Dun Liu,Xuan Shang,Xiao-Xia Ma,Ping Fang,Xiao-Feng Wei,Xiang-Min Xu,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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A quantitative assay to detect a-thalassemia deletions and triplications using multiplex nested real
[会议论文] 作者：Wan-Jun Zhou,Wei-Yu Liu,Dun Liu,Jian-Hui Jiang,Dian-Min Zhou,Ze-Yan Zhong,Xiang-Min Xu,
来源：第十二次全国医学遗传学学术会议 年份：2013
Increasing evidence indicates that copy number variants (CNVs) have great relevance to common human diseases.In a-thalassemia, clinical phenotypes are related to genotypes, specifically copy number ch...
Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel
[会议论文] 作者：Li-Hua Yu,Dun Liu,Xuan Shang,Xiao-Xia Ma,Ping Fang,Xiao-Feng Wei,Xiang-Min Xu,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number.Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassem...
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu
[会议论文] 作者：Ping Fang,Liang Li,Wan-Jun Zhou,Ze-Yan Zhong,Li Lin,Xiang-Min Xu,Jian Zeng,Wei-Qing Wu,Jian-Sheng Xie,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
...
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu
[会议论文] 作者：Zeng,Wan-Jun Zhou,Wei-Qing Wu,Ze-Yan Zhong,Ti-Zhen Yan,Jian-Sheng Xie,Jing Huang,Li Lin,Ying Zhao,Xiang-Min Xu,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA.The aim of this study was to analyze the copy numbers and...
DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in
[会议论文] 作者：Jin Wang,Sheng Yi,Dun Liu,Xiao-Feng Wei,Cun-You Zhao,Fu Xiong,Xiang-Min Xu,Qi-Zhi Xiao,Yu-Qiu Zhou,You-Ming,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
...
DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in
[会议论文] 作者：Liu,Cui-Mei Zhang,Xiao-Feng Wei,Yu-Qiu Zhou,Xing-Ming Zhong,Cun-You Zhao,Fu Xiong,Xiang-Cai Wei,Xiang-Min Xu,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked incompletely dominant enzyme deficiency that results from G6PD gene mutations.Women heterozygous for G6PD mutations exhibit variation...
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