نتایج جستجو برای: dependent probe amplification
تعداد نتایج: 823586 فیلتر نتایج به سال:
Detecting is the most important section in all kinds of sensors. In this regard, the amplification of surface plasmon resonance intensity of gold colloids nanoparticles (GNPs) was studied in the presence of several ions. GNPs were synthesized and then capped by thiocyanate and characterized via DLS and TEM image. In the next step the effect of different concentrations of ions such as iron, copp...
Detecting is the most important section in all kinds of sensors. In this regard, the amplification of surface plasmon resonance intensity of gold colloids nanoparticles (GNPs) was studied in the presence of several ions. GNPs were synthesized and then capped by thiocyanate and characterized via DLS and TEM image. In the next step the effect of different concentrations of ions such as iron, copp...
We performed genomic profiling using multiplex ligation-dependent probe amplification (MLPA) in 54 cases with suspected or advanced chronic lymphocytic leukemia (CLL). MLPA detected abnormalities when the percentage of mutated cells was greater than approximately 35%. Loss of 9p21 CDNK2A/B was revealed. MLPA is an economically attractive, powerful tool in trial-based, centralized risk-assessmen...
Methods 20 SRS cases diagnosed in Beijing Children’s Hospital from 2006 to 2011 were studied retrospectively for clinical manifestations, physical signs, laboratory examinations and respond of GH treatment. We compared with 3 different diagnostic criteria and used the methylationspecific multiplex ligation dependent probe amplification (MS-MLPA) method to detect the chromosome 11p15 imprinting ...
We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.
BACKGROUND Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression. Causative mutations in genes encoding 5 desmosomal proteins are found in ≈50% of ARVD/C index patients. Previous genotype-phenotype relation studies involved mainly overt ARVD/C index patients, so follow-up data on relatives...
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