Background In meta-analyses of genetic association studies, ancestry and ethnicity are not
accurately investigated. Ethnicity is usually classified using conventional race/ethnic …

Background: MicroRNAs (miRNAs) are noncoding RNA molecules, which directly regulate
gene expression. It has been documented that single nucleotide polymorphisms in miRNA …

Nephrotic syndrome (NS) is considered as a primary disease of the kidney that represents a
heterogeneous group of glomerular disorders occurring mainly in children. It is generally …

Conclusion: It is concluded that this position is heterozygous and there were statistically
significant differences between patients and controls concerning the VNTR8/VNTR8 …

Leber's congenital amaurosis (LCA) is considered as one of the main causes of congenital
blindness. In view of the genetically heterogeneous nature of the disease, indirect diagnosis …

Background: To determine the frequency of the single nucleotide polymorphism M287T in
exon 9 of the AS3MT gene in Iranian population and to assess the difference in allele …

Background: Cytokine gene single nucleotide polymorphisms (SNPs) are widely used to
study susceptibility to complex diseases and as a tool for anthropological studies. Materials …

Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that cause
abnormal metabolism of lipids. Direct sequencing and deletion analysis is used to detect …

Fragile X syndrome, which is caused by mutation in the FMR1 gene region, is one of the
most prevalent forms of mental retardation. Direct diagnosis of the disease is based on PCR …

AbstractBackground: Congenital myasthenic syndromes (CMS) recognized as
heterogeneous disorders arising from presynaptic, synaptic, or postsynaptic defects …