نتایج جستجو برای: mutation detection

تعداد نتایج: 844642  

Journal: :Bunseki Kagaku 2022

The epidermal growth factor receptor (EGFR) T790M mutation, a missense mutation from CpG cytosine to thymine, in non-small cell lung cancer is drug-resistant induced by the administration of tyrosine kinase inhibitors (TKIs). It important detect this with high sensitivity, as effective therapies have been developed for patients mutation. We confirmed that at point methylated various tissues, an...

2016
Meiling Jin Yuansheng Xie Zhiqiang Chen Yujie Liao Zuoxiang Li Panpan Hu Yan Qi Zhiwei Yin Qinggang Li Ping Fu Xiangmei Chen

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-ge...

Journal: :cell journal 0

objective: colorectal cancer (crc) is one of the most common and aggressive cancers worldwide. the majority of crc cases are sporadic that caused by somatic mutations. the adenomatous polyposis coli (apc; omim 611731) is a tumor suppressor gene of wnt pathway and is frequently mutated in crc cases. this study was designed to investigate the spectrum of apc gene mutations in iranian patients wit...

Journal: :jundishapur journal of microbiology 0
bahram nasr esfahani department of microbiology, isfahan university of medical sciences, isfahan, ir iran fatemeh sadat zarkesh department of microbiology, science and research branch, islamic azad university, fars, ir iran hadi rezaei yazdi department of microbiology, jahrom university of medical sciences, jahrom, ir iran tooba radaee department of microbiology, isfahan university of medical sciences, isfahan, ir iran; department of microbiology, isfahan university of medical sciences, isfahan, ir iran. tel: +98-3137922493, fax: +98-3136688597

conclusions we concluded from the results that the frequency of emb-resistant m. tuberculosis cases in iran is lower than that of many other regions. the pcr-sscp technique can separate resistant isolates from sensitive isolates. the sequencing results of this study showed mutation in codons 309 and 299 of the embb gene. in none of the resistant isolates, mutation was observed in codon 306. fur...

Journal: :Blood 2009
Franck E Nicolini Michael J Mauro Giovanni Martinelli Dong-Wook Kim Simona Soverini Martin C Müller Andreas Hochhaus Jorge Cortes Charles Chuah Inge H Dufva Jane F Apperley Fumiharu Yagasaki Jay D Pearson Senaka Peter Cesar Sanz Rodriguez Claude Preudhomme Francis Giles John M Goldman Wei Zhou

The BCR-ABL T315I mutation represents a major mechanism of resistance to tyrosine kinase inhibitors (TKIs). The objectives of this retrospective observational study were to estimate overall and progression-free survival for chronic myeloid leukemia in chronic-phase (CP), accelerated-phase (AP), or blastic-phase (BP) and Philadelphia chromosome-positive (Ph)(+) acute lymphoblastic leukemia (ALL)...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علامه طباطبایی - دانشکده اقتصاد 1393

due to extraordinary large amount of information and daily sharp increasing claimant for ui benefits and because of serious constraint of financial barriers, the importance of handling fraud detection in order to discover, control and predict fraudulent claims is inevitable. we use the most appropriate data mining methodology, methods, techniques and tools to extract knowledge or insights from ...

A. Shakoori E. Darabi M.R. Noori Daloii N. Ebadi S. Mehrabi

The aim of this study was to examine the feasibility of using an economic and practical method in order to perform non-invasive prenatal testing of thalassemia as a sing gene disorder.Sixteen (16) pregnant mothers in the 11th week of pregnancy who were referred for prenatal diagnosis of thalassemia were selected. The parents had one of IVSII-1, IVSI-5 or FR codon 8/9 mutations. Enrichment of cf...

Journal: :American journal of clinical pathology 2007
Angela Y C Tan David A Westerman Alexander Dobrovic

The point mutation 1849 (GT) V617F in the JAK2 gene occurs at high frequency in several chronic myeloproliferative diseases. Although a number of V617F mutation detection methods have been described, few are readily implemented in a diagnostic setting. We developed a simple and sensitive allelespecific competitive blocker polymerase chain reaction (ACB-PCR) assay to detect the V617F mutation. D...

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