نتایج جستجو برای: mlpa

تعداد نتایج: 902  

2015
Lijuan Wu Xiaomao Yin Lei Zheng Jianhua Zou Ping Jin Yanwei Hu Timothy Kudinha Fanrong Kong Xu Chen Qian Wang Paulo Lee Ho

BACKGROUND Streptococcus pneumoniae has more than 95 distinct serotypes described to date. However, only certain serotypes are more likely to cause pneumococcal diseases. Thus serotype surveillance is important for vaccine formula design as well as in post-vaccine serotype shift monitor. The goal of this study was to develop a practical screening assay for ten Shenzhen China common pneumococcal...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علوم بهزیستی و توانبخشی - پژوهشکده علوم زیستی 1391

پاتوژنز عقب ماندگی ذهنی که شایعترین علت معلولیت شدید در کودکان می باشد در بیش از 50 درصد موارد ناشناخته است و گمان می رود که منشاء بسیاری ازآنها ژنتیکی باشد. تعداد بسیاری از ناهنجاریهای کوچک کروموزومی (کمتر از 4mb) وجود دارند که موجب عقب ماندگی شده ولی با روشهای روتین سیتوژنتیک قابل شناسایی نیستندو برای تشخیص انها به تکنیک هایی با دقت بالاتر نیاز است. از جمله این تکنیک هاروش هیبریداسیون فلورسان...

Journal: :genetics in the 3rd millennium 0
مینا حیات نو سعید mina hayat nosaeid molecular medicine department, biotechnology research center, pasteur institute of iran صادق فلاح محمد sadegh fallah mohammad kawsar genetics research center, tehran, iran رامک حیدری ramak heidari iran muscular dystrophy association tehran, iran سمانه فتحی آذر samaneh fathi azar 1- molecular medicine department, biotechnology research center, pasteur institute, tehran, ir سمیه جمالی somayeh jamali 1- molecular medicine department, biotechnology research center, pasteur institute, tehran, ir رضا مهدیان reza mahdian 1- molecular medicine department, biotechnology research center, pasteur institute, tehran, iran مرضیه رئیسی

duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...

Journal: :genetics in the 3rd millennium 0
مینا حیات نوسعید mina hayat nosaeid molecular medicine department, biotechnology research center, pasteur institute of iran, tehran, iran رضا مهدیان reza mahdian سمیه جمالی somayeh jamali مرضیه رئیسی marzieh raeisi فهیمه مریمی fahimeh mariami صادق باباشاه sadegh babashah شبنم وحیدپور

mutations in the dystrophin gene cause duchenne muscular dystrophy (dmd), the most commonly inherited neuromuscular disorder, and becker muscular dystrophy (bmd), the milder allelic form of the disease. the mutation spectrum within this gene is unusual in that deletion of one or more exons are found in ~65% of cases. since no effective treatment is so far available for these diseases, the ident...

2014

SALSA MLPA probemix P027 Uveal melanoma Page 1 of 7 SALSA MLPA probemix P027-C1 Uveal melanoma Lot C1-0814 & C1-0213 & C1-0211: A large number of probes have been replaced by other probes in the same chromosomal regions as compared to previous lots, and several reference probes have been replaced/included. Details are in Table 1. As a result, the version number has been changed to C1. In additi...

Journal: :journal of reproduction and infertility 0

background: in recent studies, partial deletions of the azoospermia factor c region (azfc) on the y-chromosome have been detected in males with infertility problems. however, there has been a lot of debate about their significance. in order to study such deletions, a simple but accurate method for their detection was applied in this study. methods: we present data obtained from the multiplex li...

Journal: :Journal of clinical microbiology 1990
S Izumi T Fujiwara M Ikeda Y Nishimura K Sugiyama K Kawatsu

We developed a novel gelatin particle agglutination test (MLPA) for the serodiagnosis of leprosy; this test is especially useful for clinical practice and epidemiological surveys of leprosy in countries in which the disease is endemic. The antigen used in the test is the chemically synthesized trisaccharide moiety of Mycobacterium leprae-specific phenolic glycolipid I. MLPA is a simple and easy...

Journal: :Leprosy review 1995
O Parkash V Chaturvedi B K Girdhar U Sengupta

We compared 2 serological tests for the diagnosis of leprosy to test their performances. The tests include the serum antibody competition test (SACT) for the detection of antibodies to Mycobacterium leprae-specific epitope on 35 KDa protein molecule, and M. leprae gelatin particle agglutination assay (MLPA), for the detection of antiphenolic glycolipid-1 (PGL-1) antibodies. In both the assays a...

Journal: :iranian red crescent medical journal 0
farkhondeh behjati genetics research center, university of social welfare and rehabilitation sciences, tehran, ir iran saghar ghasemi firouzabadi genetics research center, university of social welfare and rehabilitation sciences, tehran, ir iran firoozeh sajedi pediatric neurorehabilitation research center, university of social welfare and rehabilitation sciences, tehran, ir iran kimia kahrizi genetics research center, university of social welfare and rehabilitation sciences, tehran, ir iran mostafa najafi genetics research center, university of social welfare and rehabilitation sciences, tehran, ir iran behruz ebrahimizade ghasemlou genetics research center, university of social welfare and rehabilitation sciences, tehran, ir iran

materials and methods a number of 100 patients with imr, normal karyotypes and negative fragile-x and metabolic tests were screened for subtelomeric abnormalities using mlpa technique. results nine of 100 patients showed subtelomeric abnormalities with at least one of the two mlpa kits. deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. ...

2015
Renata Pires Dotto Andreia Latanza Gomes Mathez Luciana Ferreira Franco João Roberto de Sá Leticia Schwerz Weinert Sandra Pinho Silveiro Fernando de Mello Almada Giuffrida Magnus Regios Dias da Silva André Fernandes Reis

Background Maturity-onset diabetes of the young (MODY) represents about 3-5% of cases of diabetes mellitus (DM). Searching for mutations can be performed either by Sanger sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA) technique. MLPA is a powerful molecular tool that identifies large genetic rearrangements such as deletions and insertions, even though these kinds of mutat...

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