نتایج جستجو برای: c3316t mutation

تعداد نتایج: 291413  

ژورنال: پیاورد سلامت 2008
توگه, غلام رضا, علی مقدم, کامران, عین اللهی, ناهید, غفاری, سید حمیداله, فردوسی, شیرین, قوام زاده, اردشیر, موسوی, سید اسد اله, نادعلی, فاطمه, چاردولی, بهرام,

Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...

راستان, حمیده, ربیعی‌پور, ساغر, صفری, نازیلا, جهانگیرپور, محمدعلی , خسروی‌پور, گلاره, شیخ‌سفلی, فاطمه, مدنی اصفهانی, طاهره , پوپک, بهزاد,

Abstract Background & Aims:BRAF-V600E mutation has recently been considered as a molecular marker in diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E mutation detection with other previous methods in diagnosis of HCL patients. Materials & M...

Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...

A Ghasemi, A Ghotaslou, B Chahardouli, F Nadali, S Abbasian, S Rostami,

Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the fre...

ژورنال: پژوهش در پزشکی 2004
اکرم نریمانی, , , Derakhshan F, سروین پیمان, , سید جواد میرحسنی مقدم, , فرامرز درخشان, , فرناز تقی زاده, , محمدرضا زالی, , نسترن نوروزی, ,

Background : Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV ...

Journal: :iranian journal of pediatric hematology and oncology 0
hamzehloei department of genetic, medical school, mashhad university of medical sciences f mohajer tehran department of genetic, medical school, mashhad university of medical sciencesسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences)

abstract background thalassemia is common in the iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. the molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly locat...

پایان نامه :وزارت بهداشت، درمان و آموزش پزشکی - دانشگاه علوم پزشکی و خدمات بهداشتی درمانی استان کرمان 1389

چکیده ندارد.

Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...

Journal: :iranian journal of medical sciences 0
mohammad miryounesi genomic research center, shahid beheshti university of medical sciences, tehran, iran; soudeh ghafouri-fard department of medical genetics, shahid beheshti university of medical sciences, tehran, iran; majid fardaei department of medical genetics, shiraz university of medical sciences, shiraz, iran

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

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