Results 131 to 140 of about 19,323 (198)

中国早发2型糖尿病家系MODY 1-5基因测定

Zhongshan Daxue xuebao. Yixue kexue ban, 2009
【目的】 通过对早发2型糖尿病家系先证者进行直接测序,寻找中国人群中可能存在的青少年的成人发病型糖尿病(MODY) 1-5基因突变65377;【方法】 对19个早发2型糖尿病家系的先证者进行MODY 1-5基因扩增和DNA直接测序65377;【结果】 19个先证者未发现MODY基因突变,但发现MODY 1-5基因分别存在665380;565380;1565380;165380;1种多态性65377;【结论】 MODY相关基因突变具有种族异质性,MODY 1 ...
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p53基因突变在肺癌早期诊断中的应用

Zhongguo shiyan zhenduanxue, 2003
目的　探讨p5 3基因突变在肺癌早期诊断中的应用价值。方法　应用聚合酶链式反应———单链构象多肽性分析 （PCR -SSCP）方法 ,对 10 7例疑诊肺癌患者的纤支镜标本进行p5 3基因分析 ,分析结果与病理对照或随访以证实阳性的可信度。结果　 4 3例病理诊断肺癌的患者中 ,2 5例p5 3基因发生突变 ,占 5 8.2 %。在 6 4例疑诊肺癌但病理学阴性的患者中发生p5 3基因突变 18例 ,无p5 3基因突变的 4 6例 ,经过 2 8个月的随访 ,p5 3基因突变组有 8例诊断为肺癌 ,占 ...
刘宝刚, 李雅杰, 张伟兵, 徐岩松   +3 more
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[Clinical and genetic characteristics of young patients with myeloproliferative neoplasms]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2023
Zhang MY, Bao M, Shi DY, Shi HX, Liu XL, Xu N, Duan MH, Zhuang JL, Du X, Qin L, Hui WH, Liang R, Wang MF, Chen Y, Li DY, Yang W, Tang GS, Zhang WH, Kuang X, Su W, Han YQ, Chen LM, Xu JH, Liu ZG, Huang J, Zhao CT, Tong HY, Hu JD, Chen CY, Chen XQ, Xiao ZJ, Jiang Q.   +31 more
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[The cochlear extracellular matrix gene mutations and hearing loss]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Wang Q, Yuan Y, Han W.
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[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Su D, Lou F, Huang R, Li X, Lin K, Li G, Ma J.   +6 more
europepmc   +1 more source

A Case Report of Erlotinib as First-line Therapy in Extensive Metastatic Patient with Advanced Non-small Cell Lung Cancer [PDF]

, 2009
Wanfeng GUO, Xiaoqing LIU
core  

中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究

Zhongshan Daxue xuebao. Yixue kexue ban, 2015
摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y ...
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Ulnar-Mammary syndrome with TBX3 gene mutation in a Chinese family: A case report and literature review. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Peng N, Guo M, Jiang T.
europepmc   +1 more source

[NDUFAF2 gene mutation presenting as primary pulmonary hypertension: a case report]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Yan XD, Chen YY, Tao L.
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Aromatase deficiency caused by mutation of CYP19A1 gene: A case report. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Li H, Fu S, Dai R, Sheng Z, Liu W.
europepmc   +1 more source