Screening for -thal mutations using PCR-ARMS for the seven most frequent mutations in the Saudi population followed by DNA sequencing of the unknown alleles could be useful for the implementation of a strategy for carrier detection and preimplantation genetic diagnosis in high risk families. 展开 ...
- 《American Journal of Medical Genetics Part A》 被引量: 16发表: 2010年 Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome ...
Five Cypriots homozygous for β +-thalassaemia have inherited deletion or nondeletion forms of α-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia intermedia. These observations have important implications for the antenatal diagnosis of β-thalassaem...
The diagnosis of MDD, according to the Diagnostic and Statistical Manual of Mental Disorders, 5th edition, is characterized by 2 or more weeks of depressed mood and/or loss of interest and pleasure, along with other symptoms including sleep, weight, and energy changes [4]. Treatment with antid...
Molecular basis and prenatal diagnosis of hemoglobinopathies in Turkey. Int J Pediatr Hematol Oncol. 1995; 2 :283–90.Altay, C. and BaBak, A. N. (1995): Molecular basis and prenatal diagnosis of hemoglobinopathies in Turkey. Int... C Altay,AN Basak 被引量: 40发表: 1995年 Elevated ex...
网络释义 1. 分子诊断 分子片断,Mo... ... ) fragment molecular orbital 片断分子轨道 )Molecular Diagnosis分子诊断) molecule fragments 分子碎片 ... www.dictall.com|基于48个网页 2. 分子检验 检验医学部 > 检验目录 >分子检验(Molecular Diagnosis) > CYP2C19*3(636G→A)Genotyping 分子检验(Molecular ...
In the present review we'll highlight aspects of the molecular basis of α-thalassemia that provide insight into how we may understand the mechanisms underlying α-thalassemia [7], [8]. 2. Disease names and diagnosis Alpha-thalassemia is characterized by a deficit in the production of the α...
In the case of these patients, histoplasmosis is a well-known disease that can be contracted by people who spend time in caves. If they had become symptomatic, they could have been quickly tested for H. capsulatum using a specific assay. In the absence of their recent history, diagnosis ...
Finding a COL4A3–COL4A5 variant that affects the structure or function of a collagen IV α chain confirms the diagnosis of Alport syndrome, and indicates that other family members should be investigated. Genetic testing also identifies the mode of inheritance, and which family members who are ...
· Jan-Gowth Chang Molecular diagnosis of patients with β-thalassemia major in central Taiwan by amplified created restriction site analysis Received: May 21, 1998 / Accepted: July 29, 1998 Abstract β-Thalassemia, a hematologic disorder character- ized by the deficiency or the absence of β-...