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

Hamidreza Khodadadi, Luis J Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán‐Ruiz, Date:2016/10/1
AuthorsHamidreza Khodadadi, Luis J Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán‐Ruiz
Date2016/10/1
DescriptionObjectives We aimed to identify the disease-cauisng mutations in a consanguineous family rnfeaturing intellectual disability and parkinsonism. Methods Full phenotypic characterization, rnfollowed by genome-wide single-nucleotide polymorphism genotyping and whole-genome rnsequencing, was carried out in all available family members. Results The chromosome, rn2p23. 3, was identified as the disease-associated locus, and a homozygous PTRHD1 rnmutation (c. 157C> T) was then established as the disease-causing mutation. The ...