Výsledky vyhledávání

[Rapid diagnosis of Down's syndrome by multiplex real-time fluorescence relative quantitative PCR]

Autor: Qi-Lian Zou, Lirong Wang, Mei Yan, Bin Gao, Hai-Xin Yuan, Jing-Zhong Liu, Yan Wu, Xing-Yuan Jia, Zhan-Yong Wang, Shu-Lan Niu, Zhen Lei, Bai Xiao, Shang-Zhi Huang

Publikováno v: Yi chuan = Hereditas. 29(8)

To establish a multiplex real-time fluorescence relative quantitative PCR method for diagnosis of Down's syndrome. The fragment from Down's syndrome critical region gene 3 (DSCR3) on chromosome 21 was used as the target gene, and the glyceraldehyde-3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::054aed004acc2f05f8fb74549013a3fe
https://pubmed.ncbi.nlm.nih.gov/17681920

Zobrazit plný text záznamu

[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population]

Autor: Gu, Tian, Yu-he, Liu, Yi-nan, Ma, Yu-jie, Li, Ying, Zhang, Shu-lan, Niu, Yuf-eng, Xu, Pei, Pei, Song-tao, Wang, Ding-fang, Bu, Bo-ran, Du, Xiang, Zhou, Xiao-mei, Ke, Yu, Qi

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 24(4)

To conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::20db5b7f0974acd3fbc71b5322b8b9ca
https://pubmed.ncbi.nlm.nih.gov/17680545

Zobrazit plný text záznamu

Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies

Autor: Xiru Wu, Ding-fang Bu, Hui Xiong, Pei Pei, Liping Zou, Ye Wu, Yu Qi, Yun Yuan, Shu-lan Niu, Jing Xiao, Shuang Wang, Zhaoxia Wang, Yanling Yang, Songtao Wang, Ying Zhang, Yao Zhang, Yinan Ma, Fang Fang, Fang Sun

Publikováno v: Mitochondrion. 7(1-2)

To investigate the spectrum of common mitochondrial mutations in Northern China during the years of 2000–2005, 552 patients of mitochondrial encephalomyopathies clinically diagnosed as MELAS, MERRF or Leigh’s syndrome, 14 cases of LHON and 46 cas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754914e94c636e2a0addd30bb2e649b6
https://pubmed.ncbi.nlm.nih.gov/17276742

Zobrazit plný text záznamu

[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]

Autor: Ying, Zhang, Zhao-xia, Wang, Shu-lan, Niu, Yu-feng, Xu, Pei, Pei, Yun, Yuan, Yan-ling, Yang, Yu, Qi

Publikováno v: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae. 27(1)

To discuss the clinical characteristics associated with mitochondrial DNA A3243G mutation.Clinical manifestations as well as results of brain CT and/or MRI scanning, blood level of lactic acid and muscle biopsy results of 25 mitochondrial encephalomy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c1bc8986c4eabe166a705e354069cf15
https://pubmed.ncbi.nlm.nih.gov/15782498

Zobrazit plný text záznamu

[Five single nucleotide polymorphisms of casein kinase I gamma 2 gene in children with familial febrile convulsions]

Autor: Yi-nan, Ma, Lei, Hao, Shu-lan, Niu, Yu-feng, Xu, Ying, Zhang, Pei, Pei, Ding-fang, Bu, Yu, Qi

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 21(4)

To investigate the association between single nucleotide polymorphisms (SNPs) of casein kinase I gamma 2 (CSNK1G2) gene and children with familial febrile convulsions.The study samples were collected from unrelated Chinese Han population of Hebei pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::71145a61993fc2f057fb6d31f5184374
https://pubmed.ncbi.nlm.nih.gov/15300631

Zobrazit plný text záznamu

[Detection of mtDNA 11778 (G--A) point mutation in a family with Leber's hereditary optic neuropathy by site-specific polymerase chain reaction]

Autor: Shu-lan, Niu, Ying, Zhang, Yu-feng, Xu, Ding-fang, Bu, Ze-qin, Ren, Shao-yu, Wang, Guo-hua, Liu, Yu, Qi

Publikováno v: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae. 25(2)

To find a simple, fast, accurate, and quantitative PCR-based method for mutation detection, so as to identify mitochondrial DNA 11778 G--A point mutation in patients with Leber's hereditary optic neuropathy (LHON).On the basis of sequencing of mtDNA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::946c5e88eccd9d687ee503f8c490ff67
https://pubmed.ncbi.nlm.nih.gov/12905709

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání