ابراهیمپور, محمدرضا
[ 1 ] - بررسی علل ژنتیکی ناتوانی ذهنی (آتوزومی و وابسته به ایکس) در شهرستان اهواز
Objective: Intellectual Disability (ID) characterize by significant limitations both in intellectual functioning and in adaptative behavior, originates before the age of 18. Over 70% of severe to profound intellectual disabilities (ID) caused by genetic factors. The aim of this study was to investigate genetic causes of ID in fourty Ahvazi families and provide information for genetic counseling...
[ 2 ] - Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
[ 3 ] - Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...
[ 4 ] - Genetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan Province
Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID) in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamada...