CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome
LE Chamgordani, N Ebrahimi, F Amirmahani… - Journal of Genetics, 2020 - Springer
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 …
heterogeneous group of glomerular disorders occurring mainly in children. It is generally …
Molecular characterization of AIPL1 gene region in the Iranian population: application of novel informative haplotypes and detection of mutational founder effect
AK Moghadam, J Vallian, S Vallian - Genes & Genomics, 2017 - Springer
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 …
blindness. In view of the genetically heterogeneous nature of the disease, indirect diagnosis …
[HTML][HTML] Molecular genetic analysis of the variable number of tandem-repeat alleles at the phenylalanine hydroxylase gene in Iranian Azeri Turkish population
Background: The variable numbers of tandem-repeat (VNTR) alleles at the phenylalanine
hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in …
hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in …
rs1542705–67,992,843-1,050,239 represents a novel informative haplotype at the SMPD1 locus in the Iranian population
N Ebrahimi, N Moeinifar, S Vallian - Meta Gene, 2020 - Elsevier
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 …
abnormal metabolism of lipids. Direct sequencing and deletion analysis is used to detect …
DXS998–DXS548–FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population
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 …
most prevalent forms of mental retardation. Direct diagnosis of the disease is based on PCR …