Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Wei-Ying Jiang"'
Publikováno v:
International Journal of Ophthalmology, Vol 6, Iss 6, Pp 739-743 (2013)
AIM:To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).METHODS:Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disea
Externí odkaz:
https://doaj.org/article/98fdd56aa4d24c6caa2012bc2ee97df7
Publikováno v:
Journal of Dermatological Science. 55:193-195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e24ff3dc58c79743d88dd2636682c825
https://doi.org/10.1016/j.jdermsci.2009.05.007
https://doi.org/10.1016/j.jdermsci.2009.05.007
Autor:
Ling, Liu, Wei-ying, Jiang, Shi-yan, Xu, Juan, Chen, Lu-ming, Chen, Qiu-hong, Tian, Ji-cheng, Wang
Publikováno v:
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 34(7)
To understand the genotype of α and β-globin, as well as the polymorphism of β-globin gene in Cantonese in recent years, and to provide an effective genetic diagnosis for thalassemia (thal).The single-tube complex PCR was used to detect 3 types of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6954e6d1d9fc8011537942e66013f603
https://pubmed.ncbi.nlm.nih.gov/23906453
https://pubmed.ncbi.nlm.nih.gov/23906453
Publikováno v:
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 34(3)
To establish a feasible protocol to provide genetic diagnosis and prenatal diagnosis in Chinese hemophilia patients and their relatives by direct exon sequencing.In our study, genetic diagnosis was performed on 5 unrelated families with informed cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cb3cd3f957b27d486b6dd68a10b5497e
https://pubmed.ncbi.nlm.nih.gov/23683414
https://pubmed.ncbi.nlm.nih.gov/23683414
Publikováno v:
Zhonghua yi xue za zhi. 92(4)
To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family.Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplificati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7d5543f73ae4711bec322ce1bc7d3ea2
https://pubmed.ncbi.nlm.nih.gov/22490798
https://pubmed.ncbi.nlm.nih.gov/22490798
Autor:
Yi-bin, Guo, Yang, Ai, Yan, Zhao, Jia, Tang, Wei-ying, Jiang, Min-lian, Du, Hua-mei, Ma, Yan-fang, Zhong
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 29(2)
To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome.Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a2bd42c9eeb1b4241f8706d05d8ab751
https://pubmed.ncbi.nlm.nih.gov/22487817
https://pubmed.ncbi.nlm.nih.gov/22487817
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(1)
To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China.PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12f801b667d50213fd2656061c794210
https://pubmed.ncbi.nlm.nih.gov/21287499
https://pubmed.ncbi.nlm.nih.gov/21287499
Autor:
Jing Bo Zeng, Qun Di Lin, Guo Long Yu, Bing Yi Zhou, Wei Ying Jiang, Hua Liang, Han Liu, Hong Li Xi
Publikováno v:
Biochemical genetics. 50(1-2)
Knowledge of the G6PD genotype and its associated enzyme activity is significant for population genetics, diagnosis of disease, and management of patients. We tested 2,872 unrelated subjects from a Hakka population in China for G6PD activity by the W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b20bcf9236fa3fb0e37dac109cb466
https://pubmed.ncbi.nlm.nih.gov/21874587
https://pubmed.ncbi.nlm.nih.gov/21874587
Autor:
Shu-fen, Chen, Wei-ying, Jiang
Publikováno v:
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 30(5)
To improve inversion-polymerase chain reaction (I-PCR) in detection of factor VIII (FVIII) intron 22 inversion for gene diagnosis and prenatal diagnosis of hemophilia A (HA).The modified I-PCR was applied to detect FVIII intron 22 inversion in 8 fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fe8fbf0a487aa8f0cb3b01beba5250df
https://pubmed.ncbi.nlm.nih.gov/19799127
https://pubmed.ncbi.nlm.nih.gov/19799127
Publikováno v:
Huan jing ke xue= Huanjing kexue. 29(11)
The biodegradation of 4, 4'-dibromodipheny ether (BDE15) and decabromodiphenyl ether (BDE209) by white rot fungi under aerobic conditions was studied. Effects of non-ionic surfactant Tween 80 and beta-cyclodextrin as solubilizers on the apparent solu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c07c1e3ef325f7408e29084004d8937a
https://pubmed.ncbi.nlm.nih.gov/19186824
https://pubmed.ncbi.nlm.nih.gov/19186824