Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Erfeng, Yuan"'
Autor:
Weifang Tian, Yangyang Yuan, Erfeng Yuan, Linlin Zhang, Ling Liu, Ying Li, Jing Guo, Xueyin Cui, Pengyun Li, Shihong Cui
Publikováno v:
European Journal of Medical Research, Vol 28, Iss 1, Pp 1-13 (2023)
Abstract Background With the development of whole-genome sequencing technology, non-invasive prenatal testing (NIPT) has been applied gradually to screen chromosomal microdeletions and microduplications that cannot be detected by traditional karyotyp
Externí odkaz:
https://doaj.org/article/6fcc4cc56db2470b9c72279ac56ef3da
Autor:
Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao, Linlin Zhang
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype. Methods A total of 1291 PKU patients with 623 various variants were use
Externí odkaz:
https://doaj.org/article/a46ca787f2a948c5bc610cd9c3b6589d
Autor:
Jinshuang Gao, Xiaole Li, Yaqing Guo, Haiyang Yu, Liying Song, Yang Fang, Erfeng Yuan, Qianqian Shi, Dehua Zhao, Enwu Yuan, Linlin Zhang
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-8 (2022)
Abstract Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a d
Externí odkaz:
https://doaj.org/article/0f7befa2ee2d484ebd568fd289ff2e65
Autor:
Linlin Zhang, Jinshuang Gao, Hailiang Liu, Yuan Tian, Xiaoli Zhang, Wei Lei, Ying Li, Yaqing Guo, Haiyang Yu, Erfeng Yuan, Lisi Liang, Shihong Cui, Xiaoan Zhang
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-8 (2020)
Abstract Background Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the remaining cases, gene
Externí odkaz:
https://doaj.org/article/f1e4f12150b4437f8ed867403db1f722
Autor:
Yangyang Yuan, Lijun Yang, Linlin Zhang, Ying Li, Min Sang, Wenli Shi, Erfeng Yuan, Bo Yang, Enwu Yuan, Yingying Li, Peifeng Yang
Publikováno v:
Cellular and Molecular Life Sciences
Preeclampsia is a hypertensive disorder of pregnancy. Many studies have shown that epigenetic mechanisms may play a role in preeclampsia. Moreover, our previous study indicated that the differentially methylated genes in preeclampsia were enriched in
Autor:
Xiaoli Zhang, Jinshuang Gao, Yaqing Guo, Xiao Li, Chenyu Zhang, Mengyue Wang, Haiyang Yu, Erfeng Yuan, Xiaoli Li, Hao Chen, Jing Guan, Tianming Jia, Linlin Zhang
Background Spinal muscular atrophy (SMA) is one of the common autosomal recessive neuromuscular disease caused by mutations of the SMN1 gene. As a special SMA carrier, the “2 + 0” genotype of SMN1 poses a great challenge for carrier screening and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abf5a5c0eb1643bcc55b8e24b891cdd9
https://doi.org/10.21203/rs.3.rs-2130080/v1
https://doi.org/10.21203/rs.3.rs-2130080/v1
Autor:
Yuan Tian, Shihong Cui, Chenchen Ren, Ying Li, Hua Zhang, Bo Yang, Jia Peng, Erfeng Yuan, Yaqing Guo, Enwu Yuan, Ling Liu
The aim of this study was to clarify the distribution of SCN1A variants in each condition of SCN1A seizure disorders and the proportion of the SCN1A variant types in different conditions of SCN1A seizure disorders.This study consisted of querying SCN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5ff46b933f10f45e986ca670fd0dabe
https://doi.org/10.21203/rs.3.rs-1664068/v1
https://doi.org/10.21203/rs.3.rs-1664068/v1
Autor:
Jinshuang, Gao, Xiaole, Li, Yaqing, Guo, Haiyang, Yu, Liying, Song, Yang, Fang, Erfeng, Yuan, Qianqian, Shi, Dehua, Zhao, Enwu, Yuan, Linlin, Zhang
Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed8bddf53077878b6f51c32d309a209
https://doi.org/10.21203/rs.3.rs-1495904/v1
https://doi.org/10.21203/rs.3.rs-1495904/v1
Autor:
Yuan Tian, Erfeng Yuan, Jinshuang Gao, Yaqing Guo, Haiyang Yu, Linlin Zhang, Xiao’an Zhang, Xin Zhao, Enwu Yuan, Shihong Cui
Background:Fetal skeletal dysplasia is a disease that is difficult to distinguish these types of diseases during the fetal period. Due to the difficulty of fetal ultrasound diagnosis, the severity of fetal skeletal dysplasia is extremely difficult to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db417694db2b1274a9d6e06a172feeac
https://doi.org/10.21203/rs.3.rs-55348/v1
https://doi.org/10.21203/rs.3.rs-55348/v1