通过Bionano单分子光学图谱对携带相互易位或倒位罕见病例进行断裂点精准定位及致病机制研究

81771599
2017
H0419.胎儿相关性疾病与胎源性疾病
邬玲仟
面上项目
教授
中南大学
55万元
断裂点定位;倒位;相互易位;光学图谱
2018-01-01到2021-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
查看更多信息请先登录或注册
查看更多信息请先登录或注册
查看更多信息请先登录或注册
重置
序号 标题 类型 作者
1 XRCC2 mutation causes meiotic arrest, azoospermia and infertility 期刊论文 Yang Yongjia;Guo Jihong;Dai Lei;Zhu Yimin;Hu Hao;Tan Lihong;Chen Weijian;Liang Desheng;He Jingliang;Tu Ming;Wang Kewei;Wu Lingqian
2 Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome 期刊论文 Lei Ming;Mitsuhashi Satomi;Miyake Noriko;Ohta Tohru;Liang Desheng;Wu Lingqian;Matsumoto Naomichi
3 Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers 期刊论文 Pan Jianyan;Zhang Chunhua;Teng Yanling;Zeng Sijing;Chen Siyi;Liang Desheng;Li Zhuo;Wu Lingqian
4 Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis 期刊论文 Liu Yingdi;Teng Yanling;Li Zhuo;Cui Jingyi;Liang Desheng;Wu Lingqian
5 Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa 期刊论文 Wang Yihui;Teng Yanling;Liang Desheng;Li Zhuo;Wu Lingqian
6 Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome. 期刊论文 Zeng Lanlan;Li Zhibin;Pan Lijuan;Li Hongyan;Wu Jiayu;Yuan Xiying;Li Zhuo;Liang Desheng;Wu Lingqian
7 Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening 期刊论文 Yang Chenxi;Linpeng Siyuan;Cao Yingxi;Wu Lingqian
8 Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis 期刊论文 Xin Chen;Wu Yin;Siyi Chen;Wenyu Zhang;Hongyan L;Hanzhe Kuang;Miaojin Zhou;Yanling Teng;Junlong Zhang;Guodong Shen;Desheng Liang;Zhuo Li;Bing Hu;Lingqian Wu
9 Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome 期刊论文 Jiang Xuanyu;Teng Yanling;Chen Xin;Liang Nana;Li Zhuo;Liang Desheng;Wu Lingqian
10 Noninvasive prenatal diagnosis for pregnancies at risk for beta-thalassaemia: a retrospective study 期刊论文 Lv W.;Linpeng S.;Li Z.;Liang D.;Jia Z.;Meng D.;Cram D. S.;Zhu H.;Teng Y.;Yin A.;Wu L.
11 Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4 期刊论文 Lei Ming;Liang Desheng;Yang Yifeng;Mitsuhashi Satomi;Katoh Kazutaka;Miyake Noriko;Frith Martin C.;Wu Lingqian;Matsumoto Naomichi
12 Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE 期刊论文 Zhang Li;Hu Haoran;Liang Desheng;Li Zhuo;Wu Lingqian
13 Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations. 期刊论文 Lv Weigang;Liang Lili;Chen Xin;Li Zhuo;Liang Desheng;Zhu Huimin;Teng Yanling;Wu Weijuan;Wu Lingqian;Han Lianshu
14 Varifocal-Net: A Chromosome Classification Approach Using Deep Convolutional Networks 期刊论文 Qin Yulei;Wen Juan;Zheng Hao;Huang Xiaolin;Yang Jie;Song Ning;Zhu Yue-Min;Wu Lingqian;Yang Guang-Zhong
15 The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy 期刊论文 Shi Meizhen;Chen Xin;Zeng Lanlan;Li Zhuo;Liang Desheng;Wu Lingqian
16 A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree 期刊论文 Liu Yingdi;Xue Jinjie;Li Zhuo;Linpeng Siyuan;Tan Hu;Teng Yanling;Liang Desheng;Wu Lingqian
17 Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases 期刊论文 Yang Chenxi;Pan Jianyan;Linpeng Siyuan;Li Zhuo;Tan Hu;Wu Lingqian
18 Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization 期刊论文 Teng H;Liang C;Liang D;Li Z;Wu L
查看更多信息请先登录或注册

相关项目

趋势报告

经验分享