fragile X syndrome

Dynamic mutation inheritance and gene diagnosis in a fragile X syndrome family

一脆性X综合征家系的基因诊断及其动态突变

Objective To study the clinical and EEG characteristics of fragile X syndrome in pre puberty.

目的研究青春期前脆性X染色体综合征临床和EEG表现特点。

Analysis on knowledge, attitude, behavior about fragile X syndrome among parents with mentally retarded students

培智学生家长对脆性X综合征知信行调查

Loss of fragile mental retardation protein ( FMRP) causes the fragile X mental retardation syndrome.

脆性X智力低下蛋白（fragile mental retardation protein，FMRP）的表达缺失引起一种遗传性智力低下疾病&脆性X综合征。

The study of clinical diagnosis, treatment and cytogenetics of fragile X syndrome ( FraX) in early youth and children with nervous system diseases

神经系统疾病少年儿童患者的脆性X综合征检查与临床诊治研究

Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome" Rubber, vulcanized& Determination of low-temperature brittleness ( single test piece method)"

发根脆性X智力低下蛋白检测法诊断脆性X综合征GB/T1682-1994硫化橡胶低温脆性的测定单试样法

Conclusion The DNA extraction by saturated salt can be used for screening the fragile X syndrome clinically.

结论用饱和盐法提取的DNA可用于脆性X综合征基因的检测，它比传统的苯酚-氯仿-异戊醇提取法更简便、快速和经济，可用于临床上对脆性X综合征的筛查。

Establishment of Molecular Diagnostic Methods for Fragile X Syndrome and Identification of Novel Alternatively Spliced Transcripts of Its Disease Gene

脆性X综合征分子诊断方法体系的建立及其疾病基因新型可变剪接转录产物的鉴定

Genetic Diagnosis and Prenatal Genetic Diagnosis of Fragile X Syndrome

脆性X综合征的基因诊断与产前诊断

CGG Repeated Number of Fragile X Syndrome Gene FMR-1 Detected by Nonradioactive PCR Test

非同位素PCR方法检测脆性X综合征FMR-1基因CGG重复序列数目

Screening and Diagnosis of Fragile X Syndrome by PCR

脆性X综合征的PCR筛查与诊断

Cytogenetic and Molecular Study of Fragile X Syndrome among Mentally Retarded Population

智低人群中脆性X综合征的细胞、分子遗传学研究

Molecular Mechanism and Cognitive Function of Fragile X Syndrome

脆X综合征的分子基础及其认知研究进展

Evaluation of peripheral blood lymphocyte FMRP detection for diagnosing fragile X syndrome in children

FMRP检测在儿童脆性X综合征中诊断价值的实验评价

Detection of Hypermethylation in Affected Males with Fragile X Syndrome by PCR Assay

用PCR检测脆性X综合征患者

The study of large family with the fragile X syndrome

脆性X染色体综合征一家系调查

A clinical and EEG study of fragile X syndrome

脆性X染色体综合征临床与脑电图的研究

Abnormal methylation was observed in Zhashui indicating fragile X syndrome may be one of the genetic factors for MR.

结果在柞水地区MR患者中检测到FMR1基因CpG岛的异常甲基化，说明脆性X综合征可能是一个致病原因。

A case report of fragile X syndrome

一例脆性X染色体综合征报告

In fragile X syndrome, there exists striking gender differences.

至于X染色体脆折症, 其认知功能有性别差异.

Conclusion: We should strengthen our diagnosis sense on the fragile X syndrome for early diagnosis the disease and genetic counselling.

结论：提高对脆性X综合征的临床诊断意识，有助于该病的早期诊断及遗传咨询。

A Simplified Six-item Checklist for Screening of Fragile X Syndrome

用简化的六项标准筛查脆性X综合征

Fragile X syndrome is a kind of common hereditary MR, which is caused by the abnormality of FMRI gene.

脆性x综合症是一种常见的遗传性MR，它是由于FMR1基因的异常导致的。

Analysis of fragile X syndrome gene in congenital mental retard children

先天性智力低下儿童脆性X综合征的基因分析

Comparison of Two Methods of DNA Extraction in Detecting Fragile X Syndrome FMR-I Gene

两种方法提取的DNA在脆性X综合征基因FMR-I检测中的比较

The screening, diagnosis and treatment of Fragile X Syndrome

脆性X综合征的筛查、诊断和治疗

Objective To discuss the mechanism of intracellular cyclic adenosine monophosphate ( cAMP) level depression in fragile X syndrome.

目的探讨脆性X综合征细胞内环磷酸腺苷（cAMP）降低的机制。

A FAMILY WITH FRAGILE X SYNDROME A Cytogenetic Study of Bone Marrow Cells of Leukemia with High Resolution Technique

脆性X染色体综合征家系遗传学分析白血病骨髓细胞染色体高分辨研究

Mechanism of intracellular cyclic adenosine monophosphate level depression in fragile X syndrome

脆性X综合征患儿细胞内环磷酸腺苷降低的机制

Objective: To establish a method of non-isotope to detect the FMR-1 gene mutation of fragile X syndrome.

目的建立一种非同位素的检测脆性X综合征智力缺陷基因（FMR-1）突变的方法。