Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Liping Wei"'
Autor:
Xiaoxu Yang, Changhong Yang, Xianing Zheng, Luoxing Xiong, Yutian Tao, Meng Wang, Adam Yongxin Ye, Qixi Wu, Yanmei Dou, Junyu Luo, Liping Wei, August Yue Huang
Publikováno v:
Genomics, Proteomics & Bioinformatics, Vol 18, Iss 2, Pp 140-149 (2020)
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease
Externí odkaz:
https://doaj.org/article/978e3bb602e748faa19e242c1e077848
Autor:
Qixi Wu, Wei-Zhen Zhou, Tad Zhengzhang Pu, Dan-Dan Wang, Jie Zhang, Xiaojing Lin, Changhong Yang, Adam Yongxin Ye, Ziyi Li, Jiarui Li, Yu-Yu Wu, Meng Wang, Liping Wei, Sheng Wang
Publikováno v:
Human Mutation
Autism spectrum disorder (ASD) is a childhood neuropsychiatric disorder with a complex genetic architecture. The diagnostic potential of a targeted panel of ASD genes has only been evaluated in small cohorts to date and is especially understudied in
Autor:
Qixi Wu, Xiaoling Yang, Qi Zeng, Shupin Li, Xiaoxu Yang, Xiru Wu, Yuehua Zhang, Sheng Wang, Adam Yongxin Ye, Zhe Yu, Liping Wei, Jiaoyang Chen, August Yue Huang, Yuwu Jiang
Publikováno v:
Clinical Genetics
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was to ide
Autor:
Qingping Zhang, Jiaping Wang, Liping Wei, Xiru Wu, Xiaoying Zhang, Ying Zhao, He Yao, Xiaoxu Yang, Xinhua Bao, Qixi Wu, Jiarui Li, Yongxin Wen, Shujie Yu
Publikováno v:
Genetics in Medicine
To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 pa
Autor:
Yutian Tao, Qixi Wu, Junyu Luo, August Yue Huang, Adam Yongxin Ye, Liping Wei, Yanmei Dou, Meng Wang, Xiaoxu Yang, Xianing Zheng, Changhong Yang, Luoxing Xiong
Publikováno v:
Genomics, proteomics & bioinformatics, vol 18, iss 2
Genomics, Proteomics & Bioinformatics
Genomics, Proteomics & Bioinformatics, Vol 18, Iss 2, Pp 140-149 (2020)
Genomics, Proteomics & Bioinformatics
Genomics, Proteomics & Bioinformatics, Vol 18, Iss 2, Pp 140-149 (2020)
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c6f2d60bedb6af15e7a669cc6ac9b0f
https://escholarship.org/uc/item/20x304f9
https://escholarship.org/uc/item/20x304f9
Autor:
Qixi Wu, Changhong Yang, Junyu Luo, Liping Wei, Yutian Tao, Meng Wang, August Yue Huang, Yanmei Dou, Adam Yongxin Ye, Xianing Zheng, Luoxing Xiong, Xiaoxu Yang
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variant collections, there are no collections of mosaic variants in noncancer diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b156e0aaa66ce695cb6b9dd9128f9f
https://doi.org/10.1101/2020.03.04.976803
https://doi.org/10.1101/2020.03.04.976803
Autor:
Aijie Liu, Ye Wu, Xiaoyan Liu, Xiru Wu, Xiaoling Yang, Liping Wei, Yuehua Zhang, Jing Zhang, Zhixian Yang, Qi Zeng
Publikováno v:
Journal of Human Genetics
Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencin
Autor:
Jinjun Luo, Qingping Zhang, Jiarui Li, Liping Wei, Xiaoying Zhang, Ying Zhao, Xinhua Bao, Xiru Wu
Publikováno v:
American Journal of Medical Genetics
This is the first report of Chinese familial cases with Rett syndrome (RTT) or X-linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases
Publikováno v:
Clinical Genetics. 91:717-724
The aim of the study is to investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early-onset epileptic encephalopathies (EOEEs). Targeted next-generation sequencing (NGS), focusing on 17 genes, was perform
Autor:
Yuwu Jiang, Xiaoling Yang, Xiaoyan Liu, Yuehua Zhang, Liping Wei, Xiru Wu, Ye Wu, Zhixian Yang, Xiaojing Xu, Aijie Liu
Publikováno v:
Clinical Genetics. 91:54-62
Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 m