Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Fang-xiu Zheng"'
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-5 (2024)
Abstract Background Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the
Externí odkaz:
https://doaj.org/article/884ea0afde174167b2eb654dfe76c28c
Publikováno v:
Neural Regeneration Research, Vol 14, Iss 4, Pp 613-620 (2019)
Studies have shown that the natural flavonoid luteolin has neurotrophic activity. In this study, we investigated the effect of luteolin in a mouse model of Down syndrome. Ts65Dn mice, which are frequently used as a model of Down syndrome, were intrap
Externí odkaz:
https://doaj.org/article/b5c02ed49ba24f73a4c340fdb8f420d3
Prenatal Diagnosis of Microduplication of Fetal Chromosome 17 Following Noninvasive Prenatal Testing
Background Chromosome 17q12 duplication syndrome is a disease caused by the complete or partial duplication of q12 in the long arm of chromosome 17, there were no cases reported about the prenatal diagnosis of the syndrome. Most of the fetal phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dc719bf708e0e01d3b710f99f0c2fc1
https://doi.org/10.21203/rs.3.rs-557915/v1
https://doi.org/10.21203/rs.3.rs-557915/v1
Publikováno v:
The Journal of International Medical Research
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepar
Publikováno v:
Prenatal diagnosisREFERENCES. 40(4)
Objective To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false-positive results of non-invasive prenatal screening (NIPS) for predicting foetal SCAs. Methods In total, 22 844 pregnant women wer
Publikováno v:
Blood Coagulation & Fibrinolysis. 24:199-201
A 25-year-old Chinese woman who had a history of easy bruising was admitted to hospital due to uncontrolled epistaxis. She showed factor VII activity level of 2% and factor VII antigen level of 4% of the normal value. We detected a novel missense mut
Autor:
Mingshan Wang, Lihong Yang, Zhuo Zhang, Yi Chen, Bi-cheng Chen, Haixiao Xie, Fang-xiu Zheng, Yanhui Jin, Xiao-li Yang
Publikováno v:
Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 25(8)
Both compound heterozygous and homozygous protein C deficiencies (PCDs) can cause lethal thrombotic events in children. This study investigated the significance of F139V mutation in activation of protein C in heterozygous and biallelic PCD. Two pedig
Autor:
Xiao-li Yang, Yong-Ping Chen, Yanhui Jin, Mingshan Wang, Hai-xiao Xie, Bi-cheng Chen, Lihong Yang, Fang-xiu Zheng, Jinchen Li
Publikováno v:
Genetics and molecular research : GMR. 13(2)
We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma
Autor:
Li-hong, Yang, Li-qing, Zhu, Xia-oli, Yang, Ming-shan, Wang, Jia, Li, Bi-cheng, Chen, Yan-hui, Jin, Zhuo, Zhang, Fang-xiu, Zheng
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 29(5)
To analyze genetic mutations and explore its molecular pathogenesis for an hereditary protein C (PC) deficiency pedigree.The pedigree has included 15 individuals from 4 generations. Plasma levels of PC activity (PC:A), PC antigen (PC:Ag) and other co
Publikováno v:
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 33(7)