نتایج جستجو برای: autosomal dominant

تعداد نتایج: 147542  

Journal: :genetics in the 3rd millennium 0
غلام علی شهیدی gholam ali shahidi assist prof of neurology, rasul akram hospital, iran university of medical sciences, tehran, iran محمد روحانی mohammad rohani

the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...

Journal: :iranian biomedical journal 0
رامین رادپور ramin radpour مینا رضایی mina rezaee مهدی ام حقیقی mahdi m. haghighi مینا اوحدی mina ohadi حسین نجم آبادی hossein najmabadi اصغر حاجی بیگی asghar hajibeigi

autosomal dominant polycystic kidney disease (adpkd) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. in iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. so far, three genetic loci have been identified to be responsible for adpkd. little information is available concernin...

Journal: :The American Journal of Human Genetics 2016

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