سوابق علمی و پژوهشی - دانشگاه علوم پزشکی فسا

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Javad Jamshidi
جواد جمشیدی
(Javad Jamshidi)
کارشناسی ارشد
دانشکده پزشکی, گروه بیوشیمی و ژنتیک
j.jamshidi@fums.ac.ir

جستجو رزومه

مقاله ها

S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish, Date:2016/7/15
AuthorsS Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish
Date2016/7/15
PublisherNature Publishing Group
DescriptionPurpose Jalili syndrome is an autosomal recessive disorder characterized by simultaneous rnappearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in rnCNNM4 gene have been identified as the underlying cause of the syndrome. In this study, rnwe investigated a large affected family to identify the causative mutation. Patients and rnMethods A seven-generation family with 24 members affected with Jalili syndrome were rnenrolled in the study. Comprehensive ophthalmologic and dental examinations were ...