Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Shanhuo Yan"'
Autor:
Xuan Shang, Zhiyu Peng, Yuhua Ye, Asan, Xinhua Zhang, Yan Chen, Baosheng Zhu, Wangwei Cai, Shaoke Chen, Ren Cai, Xiaoling Guo, Chonglin Zhang, Yuqiu Zhou, Shuodan Huang, Yanhui Liu, Biyan Chen, Shanhuo Yan, Yajun Chen, Hongmei Ding, Xiaolin Yin, Liusong Wu, Jing He, Dongai Huang, Sheng He, Tizhen Yan, Xin Fan, Yuehong Zhou, Xiaofeng Wei, Sumin Zhao, Decheng Cai, Fengyu Guo, Qianqian Zhang, Yun Li, Xuelian Zhang, Haorong Lu, Huajie Huang, Junfu Guo, Fei Zhu, Yuan Yuan, Li Zhang, Na Liu, Zhiming Li, Hui Jiang, Qiang Zhang, Yijia Zhang, Wan Khairunnisa Wan Juhari, Sarifah Hanafi, Wanjun Zhou, Fu Xiong, Huanming Yang, Jian Wang, Bin Alwi Zilfalil, Ming Qi, Yaping Yang, Ye Yin, Mao Mao, Xiangmin Xu
Publikováno v:
EBioMedicine, Vol 23, Iss C, Pp 150-159 (2017)
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions
Externí odkaz:
https://doaj.org/article/ddb85bcb4ac24f0987fd7226623d7a62
Autor:
Xingkun Yang, Qinghua Zhou, Wanjun Zhou, Mei Zhong, Xiaoling Guo, Xiaofeng Wang, Xin Fan, Shanhuo Yan, Liyan Li, Yunli Lai, Yongli Wang, Jin Huang, Yuhua Ye, Huaping Zeng, Jun Chuan, Yuanping Du, Chouxian Ma, Peining Li, Zhuo Song, Xiangmin Xu
Publikováno v:
Advanced Science, Vol 6, Iss 11, Pp n/a-n/a (2019)
Abstract Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicate
Externí odkaz:
https://doaj.org/article/5cab374deb354382b7aa49e125a844e0
Autor:
Xiangdong Kong, Lin Li, Lei Sun, Kepeng Fu, Ju Long, Xunjin Weng, Xuehe Ye, Xinxiong Liu, Bo Wang, Shanhuo Yan, Haiming Ye, Zuqian Fan
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e88932 (2014)
The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies. This method is based on the co-ampl
Externí odkaz:
https://doaj.org/article/0656a02aaa0240bcaa1b017a976c093d
Autor:
Li Zhang, Baosheng Zhu, Xiaoling Guo, Shanhuo Yan, Chonglin Zhang, Xinhua Zhang, Ming Qi, Dianyu Chen, Qianqian Zhang, Biyan Chen, Jianmei Zhong, Hongmei Ding, Yan Chen, Shaoke Chen, Yuqiu Zhou, Xiarong Li, Wangwei Cai, Xuan Shang, Xuanzhu Liu, Chen Shiping, Yuhua Ye, Ren Cai, Yajun Chen, Jie Zou, Yan-Hui Liu, Yuehong Zhou, Xiangmin Xu, Peikuan Cong, Yaohua Tang
Publikováno v:
Human Mutation
Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dd3a0bd8fdd71f587ac656231261e8
https://doi.org/10.1002/humu.23863
https://doi.org/10.1002/humu.23863
Autor:
Chunna Fan, Baosheng Zhu, Yuqiu Zhou, Yajun Chen, Shaoke Chen, Chonglin Zhang, Shanhuo Yan, Wang Yaling, Chao Chen, Jiale Xiang, Ren Cai, Sumin Zhao, Xiaoling Guo, Asan, Xinhua Zhang, Yun Li, Xuan Shang, Yaping Zhu, Ye Yin, Xiangmin Xu, Yanhui Liu, Fengyu Guo, Wenwei Zhong, Jian Wang, Biyan Chen, Yan Chen, Jun Sun, Yaoshen Wang, Wangwei Cai, Huanming Yang, Shuodan Huang, Zhiyu Peng, Hui Huang, Mao Mao, Hongmei Ding
Publikováno v:
European Journal of Human Genetics. 27:254-262
Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a21c4c2d19b0cde4b72cbd97efbd371b
https://doi.org/10.1038/s41431-018-0253-9
https://doi.org/10.1038/s41431-018-0253-9
Autor:
Zuqian Fan, Kegan Lao, Xunjin Weng, Shanhuo Yan, Xuehe Ye, Xinxing Liu, Ju Long, Yong-Guang Zhuo, Lei Sun, Bo Wang, Kepeng Fu
Publikováno v:
Gene. 552:272-276
Development of a qPCR test for the detection of trisomy 21 using segmental duplications.Segmental duplications in the TTC3 gene on chromosome 21 and the KDM2A gene on chromosome 11 were selected as molecular markers for the diagnostic qPCR assay. A s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93bcf96e5a1af5696681b38a4b9b8122
https://doi.org/10.1016/j.gene.2014.09.044
https://doi.org/10.1016/j.gene.2014.09.044
Autor:
Zhiming Li, Bin Alwi Zilfalil, Huanming Yang, Fu Xiong, Qiang Zhang, Li Zhang, Jian Wang, Wanjun Zhou, Hongmei Ding, Asan, Yun Li, Dongai Huang, Fengyu Guo, Shaoke Chen, Yaping Yang, Wangwei Cai, Xiaolin Yin, Fei Zhu, Xuelian Zhang, Shuodan Huang, Sarifah Hanafi, Sumin Zhao, Liusong Wu, Na Liu, Xin Fan, Tizhen Yan, Jing He, Xiaoling Guo, Yuhua Ye, Ming Qi, Decheng Cai, Yuehong Zhou, Ye Yin, Xiaofeng Wei, Zhiyu Peng, Ren Cai, Yajun Chen, Xuan Shang, Xinhua Zhang, Yanhui Liu, Hui Jiang, Junfu Guo, Yan Chen, Baosheng Zhu, Mao Mao, Yuqiu Zhou, Biyan Chen, Huajie Huang, Yijia Zhang, Haorong Lu, Qianqian Zhang, Shanhuo Yan, Xiangmin Xu, Sheng He, Wan Khairunnisa Wan Juhari, Chonglin Zhang, Yuan Yuan
Publikováno v:
EBioMedicine
EBioMedicine, Vol 23, Iss C, Pp 150-159 (2017)
EBioMedicine, Vol 23, Iss C, Pp 150-159 (2017)
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454124f146e23056a4f198aca4452107
https://pubmed.ncbi.nlm.nih.gov/28865746
https://pubmed.ncbi.nlm.nih.gov/28865746
Autor:
Kepeng Fu, Xiangdong Kong, Haiming Ye, Xunjin Weng, Ju Long, Xuehe Ye, Bo Wang, Xin-Xiong Liu, Lin Li, Zuqian Fan, Shanhuo Yan, Lei Sun
Publikováno v:
PLoS ONE
PLoS ONE, Vol 9, Iss 3, p e88932 (2014)
PLoS ONE, Vol 9, Iss 3, p e88932 (2014)
The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies. This method is based on the co-ampl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6478d7d272fe666fdf812e427b9384cd
http://europepmc.org/articles/PMC3953018
http://europepmc.org/articles/PMC3953018
Publikováno v:
Blood cells, moleculesdiseases. 52(4)
α-Thalassemia is a common single-gene genetic disease that can cause Hb Bart's hydrops fetalis and Hb H disease in tropical and subtropical regions. When examining conventional thalassemia genes, an only detected --(SEA) genotype sample needs furthe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e404e0cbe1fdd0293e443d76fcff55
https://pubmed.ncbi.nlm.nih.gov/24225490
https://pubmed.ncbi.nlm.nih.gov/24225490
Publikováno v:
Clinical biochemistry. 46(18)
Objective Thalassemia is one of the most common monogenic hereditary diseases in tropical and subtropical regions. An effective way to avoid the birth of severe thalassemia patients is to strengthen the thalassemia screening of couples before wives a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::442ddc77b963879052e8d0f0c19231bc
https://pubmed.ncbi.nlm.nih.gov/24070774
https://pubmed.ncbi.nlm.nih.gov/24070774