Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Jiwu, Lou"'
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
ABSTRACTObjectives: In clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening
Externí odkaz:
https://doaj.org/article/a24c7cff9f9343de8099debe4018627f
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-9 (2020)
Abstract Background Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID. Currently, few
Externí odkaz:
https://doaj.org/article/196c8ba768ab4eabbfbb46f0f26c4ee1
Autor:
Manna Sun, Jiwu Lou, Qiaoyi Li, Jianhong Chen, Yujuan Li, Dongzhi Li, Haiming Yuan, Yanhui Liu
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 2, Pp 292-295 (2019)
Objectives: To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene. Case report: A 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestati
Externí odkaz:
https://doaj.org/article/f029e461357d48e78f78d03596e30ed1
Publikováno v:
International Journal of Laboratory Hematology. 45:90-95
Though an increase in Hb AWe reviewed the haematological indices of 47336 individuals to analyse the phenotype-genotype correlation and identified 1439 individuals (3.04%) positive in the elevation of Hb AOf these 1439 individuals with elevated Hb AT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3500cd3d1ab0ef097104c6f36a6d60eb
https://doi.org/10.1111/ijlh.13959
https://doi.org/10.1111/ijlh.13959
Autor:
Jiwu, Lou1 (AUTHOR), Manna, Sun2 (AUTHOR), Lai, Meixiang3 (AUTHOR), Ying, Zhao1 (AUTHOR), Yanhui, Liu1 (AUTHOR) liuliang71215@163.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Jul2021, Vol. 9 Issue 7, p1-6. 6p.
Autor:
Yuhua Ye, Guoying Sun, Zhe Ren, Yidan Liang, Hualei Luo, Peng Lin, Xingmin Wang, Zejun Dong, Li Huang, Lang Qin, Wenfang Yu, Ge Wang, Yuqiu Zhou, Jia Tang, Jiwu Lou, Yanhui Liu, Xianqi Zeng, Yajun Chen, Yihong Li, Qianqian Zhang
Publikováno v:
Journal of Clinical Pathology; Nov2023, Vol. 76 Issue 11, p784-789, 16p
Autor:
Jiwu Lou, Manna Sun, Ying Zhao, Zhisong Ji, Fenghua Liu, Dongzhi Li, Wanfang Xu, Yangyang Lin, Yanhui Liu
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0171886 (2017)
During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pr
Externí odkaz:
https://doaj.org/article/f32f329d637b4ece90de92e59dbcb739
Autor:
Jiwu Lou, Manna Sun, Yi He, Youqing Fu, Yunshi Dai, Ying Zhao, Haiming Yuan, Yanhui Liu, Fuxiao Liang
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 35:3064-3069
To evaluate the incidence and types of chromosomal abnormalities in pregnancy loss and aborted fetuses with anomaly and compare the performance of subtelomeric MLPA and chromosomal microarray analysis (CMA) in these specimens. Samples were collected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e20739188993953510cf168645c84f5
https://doi.org/10.1080/14767058.2020.1808612
https://doi.org/10.1080/14767058.2020.1808612
Autor:
Yuhua, Ye, Guoying, Sun, Zhe, Ren, Yidan, Liang, Hualei, Luo, Peng, Lin, Xingmin, Wang, Zejun, Dong, Li, Huang, Lang, Qin, Wenfang, Yu, Ge, Wang, Yuqiu, Zhou, Jia, Tang, Jiwu, Lou, Yanhui, Liu, Xianqi, Zeng, Yajun, Chen, Yihong, Li, Qianqian, Zhang, Jin, Huang, Ping, Zhu, Liang, Lin, Xinhua, Zhang, Xiangmin, Xu
Publikováno v:
Journal of clinical pathology.
Reactivation of embryonic ζ-globin is a promising strategy for genetic treatment of α-thalassaemia. However, quantification of ζ-globin as a quantitative trait in α-thalassaemia carriers and patients remains incompletely understood. In this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f000f21eee3709fabc6960161a2b94a1
https://pubmed.ncbi.nlm.nih.gov/36008105
https://pubmed.ncbi.nlm.nih.gov/36008105
Autor:
Yujuan Li, Haiming Yuan, Jianhong Chen, Qiaoyi Li, Jiwu Lou, Manna Sun, Yanhui Liu, Dong-Zhi Li
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 2, Pp 292-295 (2019)
Objectives: To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene. Case report: A 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8bf817047de875dc3f5245a0889ebe4
http://www.sciencedirect.com/science/article/pii/S1028455919300221
http://www.sciencedirect.com/science/article/pii/S1028455919300221