نتایج جستجو برای: multiplex ligation dependentprobe amplification
تعداد نتایج: 97340 فیلتر نتایج به سال:
Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening
Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophinopathy diagnosed by clinical, pathological, and genetic studies at our neuromuscul...
OBJECTIVES To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. DESIGN AND METHODS The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne mu...
Herein we present Gene-Collector, a method for multiplex amplification of nucleic acids. The procedure has been employed to successfully amplify the coding sequence of 10 human cancer genes in one assay with uniform abundance of the final products. Amplification is initiated by a multiplex PCR in this case with 170 primer pairs. Each PCR product is then specifically circularized by ligation on ...
Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus-Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependa...
BRCA1/2 mutations in Latin America are scarcely documented and in serious need of knowledge about the spectrum of BRCA pathogenic variants, information which may alter clinical practice and subsequently improve patient outcome. In addition, the search for data on testing policies in different regions constitutes a fundamental strength for the present study, which analyzes BRCA1/2 gene sequences...
Abstract The IDH-wild-type lower-grade astrocytomas are a heterogeneous entity. According to 2021 WHO classification, with any of the following factors show poor prognosis: combination chromosome 7 gain and 10 loss (+7/-10), and/or EGFR amplification, TERT promoter (TERTp) mutation. Multiplex ligation-dependent probe amplification (MLPA) can detect copy number alterations reasonable cost. purpo...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید