First clinical experience of preimplantation genetic diagnosis(PGD) for XLP 

X-linked lymphoproliferative(XLP) is a rare inherited immunodeficiency disease that is characterized by severe immune dysregulation following Epstein-Barr vi...
2013浙江省医学遗传学学术年会论文汇编  2013-08-16 下载次数(8)| 被引次数(0)

Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families 

Background:Genetic counseling and prenatal diagnosis are very necessary and accurate to detect hereditary hearing loss,especially in high-riskfamilies.Prenatal ...
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(2)| 被引次数(0)

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()

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()

Use of comprehensive DNA microarray for preimplantation genetic diagnosis in human embryos 

Trophectoderm(TE) biopsy and DNA microarray have become the new technologies for preimplantation genetic diagnosis in humans.A previous study comparing the p...
第十二次全国医学遗传学学术会议论文汇编  2014-04-18 下载次数(10)| 被引次数(0)

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()

A screening in Piggy Bac transgenic mice for new candidate genes in neural tube and congenital heart defects 

Objective Neural tube defects(NTDs) and congenital heart disease(CHDs) are the top two birth defects in China and among the world. Genetic factors play an impor...
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(4)| 被引次数()

Investigation of genetic determinants of cervical cancer 

We have recently performed the first GWAS of cervical cancer in a Swedish population and identified four independent loci,rs9272143 between HLA-DRB1 and HLA-DQA...
2017中国长三角遗传学大会会议手册  2017-10-27 下载次数(4)| 被引次数()

广西β地中海贫血胚胎植入前遗传学诊断技术平台建立及临床应用研究 

第一部分广西人群β珠蛋白基因15个STR基因座的遗传多态性研究目的研究与β珠蛋白(β-globin,HBB)基因紧密连锁的15个短串联重复序列(short tandem repeat,STR)基因座在广西人群中的遗传多态性,为建立β地中海贫血胚胎植入前遗传学诊断(preimplantation genetic diag...
广西医科大学  博士论文  2017年 下载次数(243)| 被引次数(3)

Advances in preimplantation genetic diagnosis/screening 

Preimplantation genetic diagnosis(PGD)gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring ...
《Science China(Life Sciences)》  2014年 第07期 下载次数(69)| 被引次数(2)

Systemic Evaluation MALBAC and MDA through Sanger Sequencing and Next-Generation Sequencing in Preimplantation Genetic Diagnosis (PGD) for β-Thalassemia 

Objective To systematically evaluate multiple annealing and looping-based amplification cycle(MALBAC) and multiple displacement amplification(MDA) in the applic...
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(11)| 被引次数()

Genetic variations at BCL11A, HBS1L-MYB and HBG2 associatied with fetal hemoglobin (HbF) in South China 

Objective β-thalassemia is one of the most common monogenic diseases with phenotype hetero geneity in many populations worldwide, such as in south China. Persis...
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()

Genetic detecting and prenatal diagnosis for 80 families of affected with Duchennemuscular dystrophy 

Duchenne muscular dystrophy and Becker muscular dystrophy can be caused by deletions,duplications or point mutations in the DMD gene that encodes the protein...
2015年浙江省医学遗传学学术年会暨高通量基因测序产前筛…  2015-06-26 下载次数(2)| 被引次数(0)

Preimplantation testing:Transition from genetic to genomic diagnosis 

Preimplantation genetic testing refers to the procedure to determine the genetic status of embryos formed by in vitro fertilization(IVF) prior to initiating a p...
《World Journal of Medical Genetics》  2012年 第02期 下载次数(12)| 被引次数(1)

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