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β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...
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...
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...
Recently introduced, evolutionary ontologies represent a new concept as a combination of genetic algorithms and ontologies. We have defined a new framework comprising a set of parameters required for any evolutionary algorithm, i.e. ontological space, representation of individuals, the main genetic operators such as selection, crossover, and mutation. Although a secondary operator, mutation pro...
طرح های پوششی و انباشتی در ترکیبات از اهمیت خاصی برخوردارند که مطالعه ؟؟؟؟طرح های پوششی مینیمیم و؟؟؟؟؟ طرح های ماکسیمم اهمیت این موضوع را روشن می سازد. هدف این پایان نامه بحث و بررسی طرح های پوششی و انباشتی مطالعه اعداد وابسته به آنها و ارائه روش هایی برای ساخت این طرح ها می باشد.مراجع اصلی این پایان نامه عبارت است از :1. charles . j .colbourn, and jeffry h.dinitz, the crc handbook of combina...
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 ...
diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...
familial hypercholesterolemia (fh) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in ldl receptor gene. the penetrance of fh is almost 100%, meaning that half of the offspring of affected parents born with disease. the patients are at risk of premature coronary heart disease (chd). there is no report about the molecular basis of fh in iran. identification of mutat...
a new il-2rg gene mutation in an x-linked scid identified through trec/krec screening: a case report
severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids), with known or unknown genetic alterations. here, we report a new interleukin 2 receptor, gamma chain (il-2rg) mutation in an iranian scid newborn.the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t...
Biogeography-Based Optimization (BBO) has recently gained interest of researchers due to its simplicity in implementation, efficiency and existence of very few parameters. The BBO algorithm is a new type of optimization technique based on biogeography concept. This population-based algorithm uses the idea of the migration strategy of animals or other species for solving optimization problems. t...
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