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- One example is the triplet expansion repeat mutations which can cause fragile X syndrome or Huntington's disease. 第一个特性是这种遗传疾病是由得病的母亲传给儿子与女儿。
- Obejective To discuss the relationship between the congenital mental retard and the FMR-1(fragile X syndrome mental retardation genel). 目的探讨先天性智力低下与脆性X综合征智力低下基因1(Fragile X mentalretardation gene 1,FMR-1)关系。
- 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。
- The neuroanatomical abnormalities common to both Down's syndrome and fragile X syndrome are in the hippocampus and cerebellum. 唐氏症和X染色体脆折症的神经解剖结构异常之处同是位于海马回和小脑。
- The recent volumetric neuroimaging studies in children with fragile X syndrome, Down syndrome (DS), Rett syndrome (RS), and Tourette syndrome (TS) were reviewed. 摘要我们整理了近来有关脆弱X染色体症,唐氏症,雷特症,及多雷氏症候群之脑部体积测量研究。
- The proband of pedigree A with highexpression of fragile X chromosome(35/273) was detected to be a full mutation patient of fragile X syndrome by the molecular genetic test. A家系先证者脆性X染色体高表达(35/273),分子遗传学检查证实为脆性X综合征全突变患者;
- The total incidence of the chr omosomal abnormals was 25.12%.The incidence of Fragile X Syndrome was the highes t (18.36%),the incidence of Down's Sydrome was lower (1.93%). 结果发现存在8种染色体异常,总发生率25.;12%25,其中脆性X综合征为18
- 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
- A CASE REPORT OF FRAGILE X SYNDROME 一例脆性X染色体综合征报告
- Screening and genetic analysis of fragile X syndrome in Tongling Anhui province of China 安徽省铜陵市脆性 X 综合征的分子生物学调查和遗传学分析
- Keywords fragile X syndrome;fragile X mental retardation protein;microtubule associated protein 1 B;mice; 脆性X综合征;脆性X智能低下蛋白;微管相关蛋白1B;小鼠;
- Fragile X syndrome (FraX) 脆性X综合征
- fragile X syndrome 脆性X染色体综合症
- Objective:To investgate the possibility of reactivating fragile X mental retardation-1 gene(FMR1) by cyclic adenosine monophosphate(cAMP). 目的探讨环磷酸腺苷(cAMP)对脆性X智力低下一号封闭基因(FMR1)再激活作用的可能性。
- Objective To study the influence of defection of Fragile X mental retardation-1 gene (FMR1) on cyclic adenosine monophosphate (cAMP) and to discuss its mechanism. 目的 探讨脆性X智力低下一号基因 (FMR1)表达缺失对环磷酸腺苷 (cAMP)的影响及其机制。
- In their experiments to test this idea, the researchers studied mice that produce many of the characteristic pathologies of fragile X in humans due to a loss of the FMRP gene. 在他们的实验,以验证这一概念,研究人员研究了小鼠产生的许多特征病状脆性X在人类由于亏损的fmrp基因。
- There is no expression of fragile X chromosome in the proband and his mother of pedigree B,which was futher confirmed as a non-fragile X pedigree by the molecular genetic test. B家系先证者及其母亲无脆性X染色体表达,分子遗传学检查证实为非脆性X综合征患者;
- Except the two cases of X syndrome,the sensitivity of treadmill ECG was 86.96%,specificity 90.48% and accuracy 90.91%. 除外2 例X综合征,敏感性86-96%25 ,特异性90-48 %25 ,准确性90-91 %25 。
- fragile X chromosome mental retardation syndrome 脆性X染色体智力障碍综合征
- To establish time-efficient and sensitive method for detection of the methylation of FMR1(fragile X mental retardation)and XIST(X chromosome inactivation)genes,genomic DNA was deaminated by sodium bisulfite. 建立一种快速、灵敏的检测脆性X智障基因(fragile X mental retardation;FMR1)、X染色体失活基因(Xchromosome inactivation;XIST)甲基化的方法.