• Publications
  • Influence
Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptorExpand
  • 3
  • PDF
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
&: The first two authors contributed equally. ∗Corresponding author: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: miryounesi@sbmu.ac.irExpand
  • 2
  • PDF
A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β
Abstract Mucolipidosis type II α/β (ML II α/β) and mucolipidosis type III α/β (ML III α/β) have been shown to be caused by an absence or reduced level of uridine diphosphateExpand
  • 3
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene
Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvicExpand
  • 1
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome
Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facialExpand
  • 2
Neurodegeneration with brain iron accumulation 2A: Report of four independent cases
Abstract Neurodegeneration with brain iron accumulation-2A (NBIA2A, also called infantile neuroaxonal dystrophy) is an autosomal recessive disorder of the central nervous system (CNS) caused byExpand
A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain andExpand
  • 3
  • PDF
Next generation sequencing elucidated a clinically undiagnosed metabolic disorder - An Iranian family with hereditary orotic aciduria
Abstract Hereditary orotic aciduria is a rare autosomal recessive metabolic disorder, manifested by retarded growth, developmental delay and elevated levels of orotic acid in the urine. It is theExpand