Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Hua Li"'
Autor:
Hua, Li, Xiangshu, Hu, Lingxia, Fei, Peiqi, Zhang, Xinhao, Chen, Mei, Ouyang, Wei, Zhang, Xingzhou, Liu
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(5)
To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in th
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 30(5)
To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene
Autor:
Qing-hua, Li, Kai-xiang, Liu, Jun-lin, Feng, Ai-yuan, Zeng, Hao, Li, Lan, Wu, Yong-gang, Tang, Mei-lin, Chen, Xiao-hui, Lin, Jing-zi, Jiang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 27(5)
To report an X-linked dominant Charcot-Marie-Tooth disease (CMTX) Chinese family with vocal cord paresis and to identify the mutation of gap junction protein beta 1 gene (GJB1).Part of the family members with dysphagia, dysphonia and lethal respirato
Autor:
Qiang, Tian, Fu-hua, Li, Kan-xing, Zhao, Li, Wang, Xiao-yan, Shan, Yu-ying, Pang, Yi-xin, Li, Mei-jun, Wu, Feng, Qiu, Hai-yun, Li
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 24(6)
To determine the possible myocilin molecular genetic defect underlying POAG in China and to identify the pathogenic mutation causing the disease.The majority of 1 branch of a large Chinese POAG family were personally examined by two senior ophthalmol
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 24(3)
To investigate the association of TGF beta1 and AT1R gene polymorphisms with hereditary susceptibility and clinical phenotype of HBV-induced liver cirrhosis.Peripheral blood samples were collected from 102 patients with HBV-induced liver cirrhosis an
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 24(1)
To explore the expression of caspase 9(CASP9) gene in non-small cell lung cancer (NSCLC) and single nucleotide polymorphism (SNP) distribution of CASP9 in NSCLC patients and normal people.Reverse transcription-PCR (RT-PCR) was used to analyze the exp
Autor:
Zhao-hui, Tang, Li, Xia, Wei, Chang, Hua, Li, Fang, Shen, Jing-yu, Liu, Qing, Wang, Mu-gen, Liu
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 23(2)
To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).Single stranded conformation polymorphism (SSCP) analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(1)
To study the strategy of applying molecular genetic methods and techniques in the diagnosis of spinocerebellar ataxias (SCA).This study included 43 patients with SCA from 36 families, 38 sporadic SCA patients, 60 healthy individuals from the SCA fami
Autor:
Hong, Jiang, Beisha, Tang, Bo, Xu, Guo-hua, Zhao, Lu, Shen, Jian-guang, Tang, Qing-hua, Li, Kun, Xia
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(1)
To assess the frequency of spinocerebellar ataxia (SCA), including the subtypes of SCA1, SCA2, SCA3/Machado-Joseph disease(MJD), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and dentatorubro-pallidoluysian atrophy (DRPLA) in Han population in the Chi
Autor:
Chun-hua, Li, Xiao-mei, Zhang, Yong-gang, Li, Bao-sheng, Zhu, Yi-shi, Meng, Huai-ying, Feng, Ze, Wu, Meng-ying, Gao, Xin-hua, Tang, Jian-yun, Wu
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 21(5)
To investigate the feasibility and risk of preimplantation genetic diagnosis (PGD) for screening normal offspring of Robertsonian translocation carriers.This case was clinically diagnosed as primary infertility for 6 years; the husband was found to h