Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Dejian, Yuan"'
Autor:
Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Jingfang Zhai
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarg
Externí odkaz:
https://doaj.org/article/c1efb444e37745188c80e43364c16a43
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for ch
Externí odkaz:
https://doaj.org/article/e8934cb9602348e089a9bbf5230e6b91
Autor:
Shiqiang Luo, Xingyuan Chen, Dingyuan Zeng, Ning Tang, Dejian Yuan, Bailing Liu, Lizhu Chen, Qingyan Zhong, Jiaqi Li, Yinyin Liu, Jianping Chen, Xiaoyuan Wang, Tizhen Yan
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Conventional methods for the diagnosis of thalassemia include gap polymerase chain reaction (Gap-PCR), reverse membrane hybridization (RDB), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. In this study, we used single
Externí odkaz:
https://doaj.org/article/a2d78aa76abc4d90a9ef143581324f6d
Autor:
Dejian Yuan, Tizhen Yan, Shiqiang Luo, Jun Huang, Jianqiang Tan, Jianping Zhang, Victor Wei Zhang, Yueyuan Lan, Taobo Hu, Jing Guo, Mingwei Huang, Dingyuan Zeng
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ARR3 has been associated with X-linked, female-limited, high myopia. However, using exome sequencing (ES), we identified the first high myopia case with hemizygous ARR3-related mutation in a male patient in a Southern Chinese family. This novel trunc
Externí odkaz:
https://doaj.org/article/23c904e13f4e46448a4b1e2fb757cabd
Autor:
Jianqiang Tan, Dayu Chen, Rongni Chang, Lizhen Pan, Jinling Yang, Dejian Yuan, Lihua Huang, Tizhen Yan, Haiping Ning, Jiangyan Wei, Ren Cai
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spec
Externí odkaz:
https://doaj.org/article/5a50ef295c5a44debd4713dc7e6eb224
Autor:
Jianqiang, Tan, Min, Zheng, Ren, Cai, Ting, Zeng, Biao, Yin, Jinling, Yang, Ba, Wei, Ronni, Chang, Yongjiang, Jiang, Dejian, Yuan, Lizhen, Pan, Lihua, Huang, Haiping, Ning, Jiangyan, Wei, Dayu, Chen
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(12)
To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment.111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::02f34cb41d825a12ba4ac0b27d445ca4
https://pubmed.ncbi.nlm.nih.gov/36453955
https://pubmed.ncbi.nlm.nih.gov/36453955
Autor:
Shiqiang Luo, Xingyuan Chen, Dingyuan Zeng, Ning Tang, Dejian Yuan, Qingyan Zhong, Aiping Mao, Ruofan Xu, Tizhen Yan
Publikováno v:
Journal of Human Genetics. 67:239-243
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a86aec45833e8999b6cf0452ab822fb
https://doi.org/10.1038/s10038-021-00992-0
https://doi.org/10.1038/s10038-021-00992-0
Autor:
Dejian Yuan, Zhong Qingyan, Ruofan Xu, Chen Xingyuan, Dingyuan Zeng, Tizhen Yan, Ning Tang, Luo Shiqiang, Aiping Mao
Publikováno v:
Journal of Human Genetics. 67:183-195
To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular characteristics and phenotypes of rare thalassemia gene variants, we used 434 c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::933d4f1454b565f58fe35b855bff99c2
https://doi.org/10.1038/s10038-021-00983-1
https://doi.org/10.1038/s10038-021-00983-1
Publikováno v:
Genomics. 112:2426-2432
Alzheimer's disease (AD) is a chronic neurodegenerative disease. The genetic risk factors of AD remain better understood. Using previously published dataset of common single nucleotide polymorphisms (SNPs), we studied the association between the mino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13572ebfd2bfe0e7ca5c7ea6bfe243e5
https://doi.org/10.1016/j.ygeno.2020.01.015
https://doi.org/10.1016/j.ygeno.2020.01.015
Publikováno v:
Hemoglobin. 44:51-54
The aim of this study was to identify the rare thalassemia genotype in a family and perform prenatal diagnosis (PND) on the proband's unborn child. Peripheral blood was collected from the family members for hematology analysis and capillary electroph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d36c938cee8f3acae0a2ed7f114f076
https://doi.org/10.1080/03630269.2020.1711771
https://doi.org/10.1080/03630269.2020.1711771