Gene diagnosis and pedigree analysis in families of Duchenne and Becker muscular dystrophy 进行性肌营养不良症基因诊断及家系分析
Clinical features and gene diagnosis of Duchenne/ Becker muscular dystrophy 假肥大型肌营养不良症40例临床特征与基因诊断
Improvement and Application of Gene Diagnosis of DMD Patients and Carriers with Deletion Mutation; Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification 缺失型假肥大型肌营养不良症及其携带者检测体系的完善及其应用研究多重连接探针扩增方法在假肥大性肌营养不良产前基因诊断中的应用
Ultrastructural features of skeletal muscle in the patients with Duchenne/ Becker muscular dystrophy Duchenne/Becker肌营养不良骨骼肌病变的超微结构特征
Clinical application of prenatal gene diagnosis of Duchenne and Becker muscular dystrophy 假肥大型肌营养不良症产前基因诊断的临床应用
Aim: To detect the deletion distribution of dystrophin gene and dystrophin changes in muscle cells of the patients with Duchenne/ Becker muscular dystrophy ( DMD/ BMD), furthermore to investigate the relationship between them and clinical symptoms. 目的:检测Duchenne/Becker型肌营养不良症(DMD/BMD)患者基因缺失及其表达产物&抗肌营养不良蛋白在肌细胞中的变化,探讨其与临床病情的关系。
Objective To explore the value of immunofluorescent technique for clinical diagnosing Duchenne muscular dystrophy ( DMD), Becker muscular dystrophy ( BMD) and Limb-girdle muscular dystrophy ( LGMD). 目的探讨免疫荧光检测对Duchenne型、Becker型和肢带型肌营养不良症(DMD、BMD和LG-MD)临床诊断的价值。
Objective To detect dystrophin expressions in muscle tissues of the patients with Duchenne Becker muscular dystrophy. 目的检测假肥大肌营养不良症肌组织中肌营养不良蛋白(dystrophin)的表达。
Objective To investigate the genealogical tree of women with Becker muscular dystrophy ( BMD). 目的对贝克氏型肌营养不良症女性患者的家系追踪研究。
Objective To develop and compare the methods for determining the carrier status in the 18 deleted families of Duchenne and Becker muscular dystrophy. 目的在18个缺失型迪谢内及贝克肌营养不良家系中,比较有效检测基因携带者的方法。
Carrier detection in families of Duchenne and Becker muscular dystrophy by methods of repeat sequence polymorphism and gene dosage analysis 重复顺序多态性及基因剂量分析诊断迪谢内及贝克肌营养不良基因携带者
Objective To study and contrast the expression of Dystrophin in skeletal muscle and in Arrector pili muscle of the patients with Duchenne muscular dystrophy ( DMD) and Becker muscular dystrophy ( BMD). 目的研究、对比肌营养不良蛋白(dystrophin)在杜兴型肌营养不良(duchennemusculardystrophy,DMD)和贝克型肌营养不良(Beckermusculardystrophy,BMD)患者活检骨骼肌、皮肤立毛肌中的表达。
Objective To study the changes of dystrophin and its value in differential diagnosis of Duchenne/ Becker muscular dystrophy and limb girdle muscular dystrophy. 目的研究dystrophin在不同类型肌营养不良症中的变化及分型诊断价值。
Objective Gene diagnosis and pedigree analysis were carried out in families of Duchenne and Becker muscular dystrophy ( DMD and BMD) in order to determine haplotypes in the patients, carriers and normal offspring. 目的在假肥大型进行性肌营养不良症家系中进行基因诊断与遗传咨询。
Objective: To investigate the pulmonary function characteristics and rehabilitation strategy for Becker muscular dystrophy ( BMD). The Psychological Condition of the Addicts and Healing Countermeasure. 目的:探讨良性假肥大型肌营养不良症(BMD)患者的肺功能表现特点与康复对策。
Application of PCR technique in genetic diagnosis of Duchenne/ Becker muscular dystrophy 应用PCR技术检测假肥大型肌营养不良
Gene analysis in the family of Becker muscular dystrophy, by short tandem repeat sequence polymorphism 一个BMD家族基因短串联重复顺序多态性分析
Genetic Analysis of 60 Duchenne Muscular Dystrophy ( DMD) or Becker Muscular Dystrophy ( BMD) Patients Using Dystrophin cDNA 60例DMD/BMD患者用抗肌营养不良cDNA探针的基因分析
Detection of Duchenne and Becker muscular dystrophy patients by DNA microarray DNA微阵列技术检测Duchenne型/Becker型肌营养不良患者的临床应用研究
Detection of Duchenne/ Becker Muscular Dystrophy ( MDM/ BMD) Gene Deletions and its Clinical Analysis DMD/BMD基因缺失的检测及其临床分析
Conclusion Repeat sequence polymorphism as well as gene dosage analysis can potentially be used in carrier detection in the deleted families of Duchenne and Becker muscular dystrophy. 结论重复顺序多态性与基因剂量分析结合可有效地检测缺失型迪谢内和贝克肌营养不良的女性携带者。
Pulmonary Function Characteristics and Rehabilitation Strategy for Becker Muscular Dystrophy 良性假肥大型肌营养不良症患者肺功能的表现特点与康复对策
【 Objective 】 To develop gene diagnosis and prenatal gene diagnosis in families with Duchenne/ Becker muscular dystrophy ( DMD/ BMD). 【目的】对杜氏/贝氏肌营养不良症(DMD/BMD)家系进行基因诊断和产前基因诊断。
Characteristics of electroretinogram in patients with Duchenne and Becker muscular dystrophy 迪谢内/贝克肌营养不良患者视网膜眼电图改变特征
Objective: To identify the deletions in Duchenne/ Becker muscular dystrophy ( DMD/ BMD) by using fluorescence in situ hybridization ( FISH). 目的:应用荧光原位杂交(FISH)筛查技术检测假性肥大型肌营养不良症(DMD/BMD)缺失型携带者。
Objective To establish a normative procedure for clinical prenatal gene diagnosis of Duchenne and Becker muscular dystrophy ( DMD/ BMD). 目的建立规范的假肥大型肌营养不良症(DMD/BMD)产前基因诊断程序。
The prenatal diagnosis of Duchenne/ Becker muscular dystrophy using STR haploid linkage analysis 用短串联重复序列单体连锁分析进行肌营养不良症产前基因诊断
The distribution of gene deletions in Duchenne/ Becker muscular dystrophy 迪谢内/贝克肌营养不良症基因缺失的分布
Objective To study the clinic and pathological features of 4 cases of lipid storage myopathy ( LSM) and differential diagnosis with Duchenne/ Becker muscular dystrophy 、 limb-girdle muscular dystrophies and polymyositis. 目的通过分析4例被误诊的脂质沉积性肌病的临床及病理特点,探讨脂质沉积性肌病被误诊的原因及与假肥大型肌营养不良、肢带型肌营养不良及多发性肌炎的鉴别诊断。
Objective: To perform gene diagnosis and carriers examination of two Xinjiang Uygur families with Duchenne/ Becker muscular dystrophy. 目的:对两个新疆维吾尔族假肥大型肌营养不良症家系进行基因诊断。