Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Baosheng Zhu"'
Autor:
Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong Li
Publikováno v:
Heliyon, Vol 10, Iss 20, Pp e38802- (2024)
Hearing loss is a common disease. More than 100 genes have been reported to be associated with hereditary hearing loss. However, the distribution of these genes and their variants across diverse populations remains unclear. In this study, we gathered
Externí odkaz:
https://doaj.org/article/d281caa15c07464eaac9af7e9fd6affb
Autor:
Ying Chan, Weiming Xu, Yan Feng, Yan Zhang, Suyun Li, Zibiao Geng, Zhijiao Liu, Qingfen Zhao, Jinman Zhang, Baosheng Zhu
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Aneuploidy pregnancy is a severe major birth defect and causes about 50% spontaneous miscarriages with unknown etiology. To date, only a few epidemiological studies with small sample sizes have investigated the risk factors for an
Externí odkaz:
https://doaj.org/article/dbbec47c54694c2ea91303bbeaccb053
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background HIST1H1E is a member of the H1 gene family. Excess de novo likely gene‐disruptive variants involving the C‐terminal tail of HIST1H1E have been reported in neurodevelopmental disorders. Although clinical phenotypes in some pati
Externí odkaz:
https://doaj.org/article/25ff75676b344e62a6bef2b2f615998e
Autor:
Lihua Lu, Limin Yao, Hui Wei, Jilin Hu, Dongmei Li, Yifei Yin, Jie Su, Qian Li, Shu Zhu, Xinhua Tang, Wenming Huang, Baosheng Zhu, Jinman Zhang
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Objective To investigate the ultrasonographic classification of fetal umbilical-portal-systemic venous shunts (UPSVS) and the correlations with fetal chromosomal abnormalities. Methods We retrospectively analyzed the ultrasound characteristi
Externí odkaz:
https://doaj.org/article/d3ef22efd3b841cf888abca6c0607473
Autor:
Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng, Yonglan Huang
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 28 (2024)
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter s
Externí odkaz:
https://doaj.org/article/4e727847153541dbbe091c3fc95b2816
Autor:
Ying Chan, Yize Liu, Yamin Kong, Weiming Xu, Xiaohong Zeng, Haichun Li, Yan Guo, Xinhua Tang, Jinman Zhang, Baosheng Zhu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: The genetic etiology of fetal chromosome abnormalities remains unknown, which brings about an enormous burden for patients, families, and society. The spindle assembly checkpoint (SAC) controls the normal procedure of chromosome disjuncti
Externí odkaz:
https://doaj.org/article/e2e63da7608444ba884310f4dc1de4ae
Autor:
Qinghua Xu, Ying Chan, Yun Feng, Baosheng Zhu, Bicheng Yang, Shu Zhu, Lingyun Su, Li Zou, Na Feng, Yan Li
Publikováno v:
BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Most embryos that spontaneously abort during early pregnancy are found to have chromosomal abnormalities. The purpose of this study is to explore the factors involved in chromosome aberrations during embryogenesis. Methods A case-
Externí odkaz:
https://doaj.org/article/e87b6c548e1e4bd390efe0459ed56ab3
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. Methods CNV-Seq and cytogenetic karyotyping were performed in parallel for 94
Externí odkaz:
https://doaj.org/article/4270b31c1c8d46b09d8594a827b3665f
Autor:
Jilin Hu, Jinman Zhang, Guilin He, Shu Zhu, Xinhua Tang, Jie Su, Qian Li, Yamin Kong, Baosheng Zhu
Publikováno v:
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background It is well known that second-trimester maternal serum alpha-fetoprotein (MS-AFP) is a predictor for adverse pregnancy outcomes (APOs), such as preterm birth, stillbirth, preeclampsia and small for gestational age (SGA). However, i
Externí odkaz:
https://doaj.org/article/20f807b4a9a2400aba1ebff30edf33f8
Autor:
Jie Zhang, Meijuan Xie, Zhiyu Peng, Xiaoyan Zhou, Tingting Zhao, Chanchan Jin, Yuanlong Yan, Xiaohong Zeng, Dongmei Li, Yangjia Zhang, Jie Su, Na Feng, Jing He, Xiangmei Yao, Tao Lv, Baosheng Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α‐thalassemia and two novel cases of β‐thalassemia caused by five different mutations in the globin gene. Methods
Externí odkaz:
https://doaj.org/article/397aca40d763468ba6d884b4c955a04d