Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Jiale Xiang"'
Autor:
Jiale Xiang, Yuan Jin, Nana Song, Sen Chen, Jiankun Shen, Wen Xie, Xiangzhong Sun, Zhiyu Peng, Yu Sun
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–
Externí odkaz:
https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092
Autor:
Yaya Guo, Dandan Yu, Kaisu Zhou, Jie Wang, Dongzhu Lei, Zhenpeng Xu, Weijiang Tang, Miaofeng Wu, Xingxing Fang, Jiankun Shen, Zhiyu Peng, Jiale Xiang
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Noninvasive prenatal testing (NIPT) is the testing of blood samples from pregnant women to screen for fetal risk of chromosomal disorders. Even though in vitro hemolysis of blood specimens is common in clinical laboratories, its i
Externí odkaz:
https://doaj.org/article/45275aeb647542ad933e0cb8dd0db160
Autor:
Chunna Fan, Zhonghua Wang, Yan Sun, Jun Sun, Xi Liu, Licheng Kang, Yingshuo Xu, Manqiu Yang, Wentao Dai, Lijie Song, Xiaoming Wei, Jiale Xiang, Hui Huang, Meizhen Zhou, Fanwei Zeng, Lin Huang, Zhengfeng Xu, Zhiyu Peng
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)
Abstract Background The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) presented technical standards for interpretation and reporting of constitutional copy-number variants in 2019 (the standards).
Externí odkaz:
https://doaj.org/article/47f23acd469049ff9f7842917e2e70c9
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Congenital hearing loss is one of the most common birth defects. Early identification and management play a crucial role in improving patients’ communication and language acquisition. Previous studies demonstrated that genetic s
Externí odkaz:
https://doaj.org/article/7118bb6fa23540a98c3be82430fa36da
Autor:
Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jingjing Xu, Nana Song, Jiguang Peng, Zhiyu Peng
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Hearing loss is one of the most common birth disorders in humans, with an estimated prevalence of 1–3 in every 1000 newborns. This study investigates the molecular etiology of a hearing loss cohort using a stepwise strategy to effectively
Externí odkaz:
https://doaj.org/article/5afb01c858dc4465ac1c61be42c42571
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Hearing loss affects approximately two out of every 1,000 newborns. Genetic factors and congenital cytomegalovirus (CMV) infections account for around 90% of the etiology. The purpose of this study was to develop and test a whole genome s
Externí odkaz:
https://doaj.org/article/28b13d813fc4446f8d5089ab1f6b6974
Autor:
Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi, Hui Huang, Wei Li, Yunshan Zhang, Jun Sun
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay. Methods O
Externí odkaz:
https://doaj.org/article/6e65ceaf9a8241a7be12bebfbde0ca64
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 18, p 5335 (2022)
To improve the etiological diagnosis of congenital hearing loss by combining whole-exome sequencing (WES) with cytomegalovirus (CMV) testing and to explore the potential benefits of adding CMV screening to newborn hearing screening, 80 children under
Externí odkaz:
https://doaj.org/article/92a9d722a446437ca30d2a88bbe0b285
Autor:
Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing loss. This study aims
Externí odkaz:
https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b
Autor:
Jiale Xiang, Jiyun Yang, Lisha Chen, Qiang Chen, Haiyan Yang, Chengcheng Sun, Qing Zhou, Zhiyu Peng
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/cd02a36b5132452aadfc76032af09b27