Genetic Diagnosis and Prenatal Diagnosis of Haemophilia B in China by DHPLC and Direct Sequencing 

Introduction Denaturing High Performance Liquid Chromatography(DHPLC)is accurate,sensitive,economic and high-throughput for detecting mutation.We aim to establi...
广东省遗传学会第九届代表大会暨学术研讨会论文及摘要汇…  2014-12-19 下载次数(1)| 被引次数(0)

Prenatal diagnosis and Genetic counseling for Waardenburg syndrome type Ⅰ and type Ⅱ in Chinese families 

Waardenburg syndrome(WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. This study aimed ...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(13)| 被引次数()

Genetic diagnosis and prenatal diagnosis of Duchenne/Becker muscular dystrophies family 

Objective Duchenne muscular dystrophy(DMD; OMIN#310200) and Becker muscular dystrophy(BMD; OMIN#3003376) are both caused by mutations in the DMD gene(OMIN#30037...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(3)| 被引次数()

Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders 

Objective Genetic skeletal disorders(GSD) involving the skeletal system arise through disturban ces in the complex processes of skeletal development, growth and...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(1)| 被引次数()

Diversity of the Genetic Environment of the blaKPC-2Gene among Klebsiella pneumoniae Clinical Isolates in a Chinese hospital 

目的 We report the characterization of the genetic environment of blaKPC-2 gene in KPC-Kp clinica strains from China belonging to diverse sequence types.方法 Thi...
中华医学会第十二次全国临床微生物学术年会暨第十一次全…  2015-08-06 下载次数(5)| 被引次数(0)

Prenatal diagnosis and Genetic counseling for Waardenburg syndrome in Chinese families 

Objective Waardenburg syndrome(WS) is an auditory-pigmentary disorder with varying combina tions of sensorineural hearing loss and abnormal pigmentation. This s...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(9)| 被引次数()

Genetic diagnosis of Chinese Han patients with Polycystic Kidney Disease 

Polycystic kidney disease(PKD) includes autosomal dominant polycystic kidney disease(ADPKD) and autosomal recessive polycystic kidney disease(ARPKD),which has a...
广东省遗传学会第九届代表大会暨学术研讨会论文及摘要汇…  2014-12-19 下载次数(3)| 被引次数(0)

Genetic study on early onset high myopia: A story from WES on 298 probands 

Objective High myopia are the most common causes of irreversible blindness due to its associat ed complications. Genetic factors have been shown to play an impo...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(2)| 被引次数()

Pico-Liter Droplet-based Rain Drop digital PCR Enables Multiplexed Genetic End Point Detection with Unprecedented Dynamic Range and Sensitivity 

Digital PCR has recently become recognized as a powerful tool for analyzing somatic mutations in cancers.The RainDrop digital PCR is based on proprietary pico-l...
第八届全国医学生物化学与分子生物学第五届全国临床应用…  2013-08-19 下载次数(6)| 被引次数()

Genetic testing of inherited cardiomyopathy by next generation semiconductor sequencing technologies 

Objective Inherited cardiomyopathy(IC) is the most common genetic heterogeneity and clinical h eterogeneity cardiac disease. It also causes a significant propor...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(1)| 被引次数()

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age 

Objective Considering the fact that hearing loss occurs in 1 to 3 of 1,000 live births and approxim ately 90 to 95 percent of them are born into hearing familie...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(2)| 被引次数()

DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis 

Objective Rheumatoid arthritis(RA) is a chronic autoimmune disease that leads to inflammation of the joints and surrounding tissues. Multiple factors, including...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(1)| 被引次数()

医学情境下基因检测的伦理学探究 

由于遗传疾病对个体和人群健康长期而严重的影响,加之多数遗传疾病目前尚无有效的干预手段,通过基因检测适时地开展诊疗具有重要的意义。伴随遗传学的快速发展,大量单基因疾病及诸多常见病的遗传基础被发现。广泛应用于临床医学及公共卫生实践中各类基因检测和筛查能够有效地检测出疾病突变,显著地促进了疾病诊疗,有益于家庭的生育决定及人群...
北京协和医学院  博士论文  2014年 下载次数(1815)| 被引次数(7)

Concurrent Genetic Diagnosis of Beta Thalassemia Mutation and Aneuploidy Screening at Single-Cell Level 

Objective The purpose of this study is to evaluate the WGA efficiency at HBB gene region between two most popular WGA method, MALBAC and MDA. Thus to chose the ...
中华医学会第十五次全国医学遗传学学术会议暨中国医师协…  2016-11-05 下载次数(2)| 被引次数()

The Molecular Genetic Assay of Progressive Familial Intrahepatic Cholestasis(PFIC) 

Progressive Familial Intrahepatic Cholestasis(PFIC)is regarded as a kind of rare genetic autosomal recessive disease that disrupts bile formation and presents w...
第十四次全国医学遗传学学术会议论文汇编  2015-11-01 下载次数(12)| 被引次数(0)

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