Out of 11 heterozygotes in first class relatives of WD, 3 were presymptomatic patients confirmed by the detections of serum copper oxidase and Kayser Fleischer ring. 其中一级亲属检出的突变者中有3例经血清铜氧化酶及眼科K-F环检查证实为WD症状前患者。
Prenatal and presymptomatic diagnosis can be made in some family members by using these intragenic markers. 以该基因内的多态位点为遗传标记,可对该病的一些家系成员进行产前或症状前诊断。
Clinically evidenced unilateral dissociation of saccades and pursuit eye movements Saccades in presymptomatic and early stages of Huntington disease 单眼分离性眼颤和眼部追踪运动病例临床前期及早期亨廷顿病的眼球震颤
A study on presymptomatic testing for spinocerebellar ataxias 脊髓小脑性共济失调的症状前诊断研究
A study on presymptomatic diagnosis of Wilson disease with DNA polymorphic analysis DNA多态性在肝豆状核变性症状前诊断中的应用
Multiparametric discriminant analyses of presymptomatic states, heterozygotes and normal individuals in hepatolenticular degeneration families 肝豆状核变性家系中症状前患者、杂合子和正常个体三种状态的多指标综合判别分析
Saccades in presymptomatic and early stages of Huntington disease 临床前期及早期亨廷顿病的眼球震颤
The presymptomatic diagnosis of 39 family members at risk for HD disclosed that 11 subjects carried the affected alleles. 39例HD高风险者的症状前预测的结果为:有11名为HD基因携带者。
Presymptomatic diagnosis and preventive treatment of hepatolenticular degeneration 肝豆状核变性的症状前诊断及干预治疗的初步研究
Besides proving the clinical diagnosis and determining the location and extent of the lesions, CT could suggest the diagnosis of Wilson disease in presymptomatic stage or before the clinical suggestion of the disease. CT对本病的作用除证实临床诊断和确定病变部位及范围外,还可以在临床未疑及本病时及本病症状前期提示本病可能。
Presymptomatic gene diagnosis of adult polycystic kidney disease family 成年型多囊肾病家系成员的症前基因诊断
The presymptomatic markers in Parkinson's disease 帕金森病的症状前指标
The neonatal CH screening is the effective means to find out CH. Conclusion Molecular study can provide useful tool for the presymptomatic and accurate diagnosis for LQTS. 进行新生儿筛查是发现CH的有效手段。结论基因筛查进行早期和准确的诊断。
Objective To study the significance of microsatellite detection for presymptomatic diagnosis of Marfan's syndrome. 目的探讨FBN1基因微卫星检测对Marfan综合征(MFS)症状前诊断的应用价值。
Objective To study presymptomatic gene diagnosis in adult polycystic kidney disease ( APKD). 目的探讨成人型多囊肾病(APKD)症状前诊断。
Objective: To establish a haplotype segregation method using the microsatellite polymorphism in families with Marfan's syndrome ( MFS) for early diagnosis, management, and genetic counseling. To evaluate microsatellite detection in presymptomatic diagnosis of Marfan's syndrome. 目的建立一种微卫星多态性检测法对MFS家系成员进行原纤蛋白-1基因(FBN1)单倍型分离分析,探讨FBN微卫星检测对Marfan综合征(MFS)症状前诊断的应用价值。
The clinical features of the spinocerebellar ataxia include ataxa, dysarthria, dysmetria et al. The gene diagnosis can be used as diagnostic criteria and the detection of repeats times of CAG can provide an effective way for the genetic and presymptomatic diagnosis. 临床特征有共济失调、构音障碍,基因诊断是一种准确的诊断方法和标准,CAG重复序列数目的检测对于基因诊断和症状前诊断是一种十分有效的方法。
According to the fundus performance and the length of the course, we divided patients into 3 groups ( presymptomatic stage, acute stage and atrophic stages) and analysed the characteristics of the fundus in each group. Also the fundus characters were discussed by using Xuanfu Theory. 根据病程长短和眼底表现分为临床前期、急性期和萎缩期三期,分析各期眼底表现的特点,并运用玄府理论对眼底表现进行探讨。