Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.-论文-万方医学网

第一作者： David E,Godler

第一单位： Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia.

作者： David E,Godler ^[1] ; Yoshimi,Inaba ^[1] ; Charles E,Schwartz ^[2] ; Quang M,Bui ^[3] ; Elva Z,Shi ^[1] ; Xin,Li ^[1] ; Amy S,Herlihy ^[4] ; Cindy,Skinner ^[2] ; Randi J,Hagerman ^[5] ; David,Francis ^[1] ; David J,Amor ^[1] ; Sylvia A,Metcalfe ^[6] ; John L,Hopper ^[3] ; Howard R,Slater ^[1]

作者单位： Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia. ^[1] Center for Molecular Studies,J.C. Self Research Institute of Human Genetics,Greenwood Genetic Center,South CA,USA. ^[2] Centre for Molecular,Environmental,Genetic and Analytic Epidemiology,University of Melbourne,Carlton,Victoria,3053,Australia. ^[3] Public Health Genetics,Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia. ^[4] The MIND Institute,University of California,Davis Medical Center,Sacramento,CA,USA. ^[5] Department of Paediatrics,University of Melbourne,Melbourne Victoria,3052,Australia. ^[6]

医学主题词青少年(Adolescent);成年人(Adult);老年人(Aged);老年人, 80以上(Aged, 80 and over);非整倍性(Aneuploidy);儿童(Child);儿童, 学龄前(Child, Preschool);染色体, 人, X(Chromosomes, Human, X);CpG岛(CpG Islands);DNA(DNA);DNA甲基化(DNA Methylation);外显子(Exons);女(雌)性(Female);脆性X智力低下蛋白质(Fragile X Mental Retardation Protein);脆性X综合征(Fragile X Syndrome);基因表达(Gene Expression);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);内含子(Introns);男(雄)性(Male);中年人(Middle Aged);核酸变性作用(Nucleic Acid Denaturation);唾液(Saliva);X染色体失活(X Chromosome Inactivation)

DOI 10.1017/erm.2015.11

PMID 26132880

发布时间 2018-11-13

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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Expert reviews in molecular medicine

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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Expert reviews in molecular medicine

相似文献

同项目论文

Expert reviews in molecular medicine

相关期刊

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