Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.-论文-万方医学网

作者： Adeel G,Chaudhary ^[1] ; Ibtessam R,Hussein ^[2] ; Adel,Abuzenadah ^[1] ; Mamdouh,Gari ^[1] ; Randa,Bassiouni ^[3] ; Samira,Sogaty ^[4] ; Sahira,Lary ^[5] ; Maha,Al-Quaiti ^[6] ; Mohammed,Al Balwi ^[7] ; Mohammed,Al Qahtani ^[1]

作者单位： Faculty of Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. ^[1] Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. Electronic address: irhussein@gmail.com. ^[2] Pediatric Hospital, Ministry of Health, Al Taif, Kingdom of Saudi Arabia. ^[3] King Fahd Hospital, Jeddah, Kingdom of Saudi Arabia. ^[4] Faculty of Science, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. ^[5] Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. ^[6] King Abdulaziz Medical City for National Guard Health Affairs, and King Saud bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia. ^[7]

主题词青少年(Adolescent);成年人(Adult);印迹法, DNA(Blotting, Southern);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);DNA突变分析(DNA Mutational Analysis);家庭(Family);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);人类(Humans);婴儿(Infant);男(雄)性(Male);甲基化(Methylation);分子诊断技术(Molecular Diagnostic Techniques);聚合酶链反应(Polymerase Chain Reaction);启动区, 遗传(Promoter Regions, Genetic);三核苷酸重复(Trinucleotide Repeats);青年人(Young Adult)

DOI 10.1016/j.pediatrneurol.2013.11.020

PMID 24630283

发布时间 2014-03-17

检索历史清除

Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.

Pediatric neurology

相似文献

Pediatric neurology

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.

Pediatric neurology

相似文献

Pediatric neurology

相关期刊

检索历史清除