Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Hong-lei Duan"'
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
Asthma comprises one of the most common chronic inflammatory conditions, yet still lacks effective diagnostic markers and treatment targets. To gain deeper insights, we comprehensively analyzed microarray datasets of airway epithelial samples from as
Externí odkaz:
https://doaj.org/article/01f05c43eee74818bea9c68d9cd412b1
Autor:
Hong-Lei Duan, Jie Li, Wan-Jun Wang, David S. Cram, Wei Liu, Pei-Xuan Cao, Xiang-Yu Zhu, Ya-Li Hu
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods: This was a retrospective study on 29 pregn
Externí odkaz:
https://doaj.org/article/1e44f1a8164f4de582d0dd4789bb9971
Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series
Autor:
Chun-Xiang Zhou, Xiang-Yu Zhu, Yu-Jie Zhu, Lei-Lei Gu, Lin-Lin He, Wei Liu, Ying Yang, Xing Wu, Hong-Lei Duan, Tong Ru, Jie Li
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 2, Pp 232-237 (2021)
Objective: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes. Materials and methods: Prenatal chromosomal microarray analysis (CMA) were conducted between January 2015 and December 2018 at a single C
Externí odkaz:
https://doaj.org/article/0e18c09ea4044426bdd5486ce48d6563
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 2, Pp 251-254 (2019)
Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. Materials and methods: This retrospective study reviewed 101 fetuses wit
Externí odkaz:
https://doaj.org/article/2e5b2ca279574ff7bf0ac9ef27ec6d6c
Autor:
Wan-jun, Wang, Hai-yan, Zhu, Rui-fang, Zhu, Ying, Yang, Xiang-yu, Zhu, Hong-lei, Duan, Ying, Zhang, Xing, Wu
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 30(1)
To detect potential mutations for probands from families affected with Duchenne/Becker muscular dystrophy (DMD/BMD), and to carry out prenatal diagnosis through identification of female carriers.A total of 43 DMD/BMD families were recruited. Multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5aebf8129cc98ab2fe06b8f2b28e3bc1
https://pubmed.ncbi.nlm.nih.gov/23450478
https://pubmed.ncbi.nlm.nih.gov/23450478
Autor:
Hai-yan, Zhu, Ya-li, Hu, Rui-fang, Zhu, Ying, Yang, Xiang-yu, Zhu, Wan-jun, Wang, Hong-lei, Duan
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(6)
To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene.Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7901db8507b36d6cfda2b6be79515720
https://pubmed.ncbi.nlm.nih.gov/22161092
https://pubmed.ncbi.nlm.nih.gov/22161092
Autor:
Hai-Yan, Zhu, Jie, Li, Ying, Yang, Xing, Wu, Xiang-Yu, Zhu, Rui-Fang, Zhu, Ying, Zhang, Hong-Lei, Duan, Ya-Li, Hu
Publikováno v:
Zhonghua yi xue za zhi. 89(25)
To analyze the pathogenic mutation of sporadic patients in Duchenne/ Becker muscular dystrophy (DMD/BMD) families and to perform prenatal diagnosis, identify the female carriers and evaluate the ratio of de novo mutation in these pedigrees.A total of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f550e7c637df450cdbd3dce2613d58b0
https://pubmed.ncbi.nlm.nih.gov/19862979
https://pubmed.ncbi.nlm.nih.gov/19862979
Autor:
Hai-yan, Zhu, Hai-bo, Li, Ling-qian, Wu, Xiang-yu, Zhu, Jie, Li, Ying, Yang, Rui-fang, Zhu, Xing, Wu, Hong-lei, Duan, Ying, Zhang, Ya-li, Hu
Publikováno v:
Zhonghua yi xue za zhi. 88(46)
To analyze the pathogenic mutation of an X-linked ichthyosis (XLI) family, and identify the genetic diagnosis of three probable female carriers in this family. To evaluate the availability of different detect methods for steroid sulfatase (STS) gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6aafb627a9a8dfc353024fd4f8020a2c
https://pubmed.ncbi.nlm.nih.gov/19159546
https://pubmed.ncbi.nlm.nih.gov/19159546
Autor:
Hai-yan, Zhu, Jie, Li, Rui-fang, Zhu, Xing, Wu, Hong-lei, Duan, Ying, Yang, Ying, Zhang, Yali, Hu
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 25(4)
To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.A G209A mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5e7412c574ef0776e2f647d38858a93
https://pubmed.ncbi.nlm.nih.gov/18683141
https://pubmed.ncbi.nlm.nih.gov/18683141
Autor:
Hong-yi, Li, Hai-yun, Wei, Hui, Zheng, Shu, Meng, Wei-ying, Jiang, Lu-ming, Chen, Hong-lei, Duan
Publikováno v:
Zhonghua yi xue za zhi. 87(16)
To investigate the genotype of oculocutaneous albinism type II (OCA2) and perform prenatal gene diagnosis for OCA2.Peripheral blood samples were collected from a 9-year-old girl with OCA and her parents, the mother being pregnant. PCR, automatic sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a3ef31d96c68caa04399d891e549117
https://pubmed.ncbi.nlm.nih.gov/17672996
https://pubmed.ncbi.nlm.nih.gov/17672996