multiple ligation-dependent probe amplification
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis
... MLPA: Multiple Ligation-Dependent Probe Amplification; MRI: Magnetic Resonance Image; NCFC syndromes: Neuro-Cardio-Facio- Cutaneous syndromes; NF1: Neurofibromatosis type 1; NGS: ...
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Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
... to multiple sites (due to the presence of a large inverted re- peat on the Y-chromosome) the deletions shown in table 1 are just one of the several possibilities in each ...
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A simple way to evaluate self designed probes for tumor specific Multiplex Ligation dependent Probe Amplification (MLPA)
... results. Ligation- dependent PCR amplification was first described by Hsuih et ...that multiple loci can be analyzed simultaneously and software is available to perform the tedious ...
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Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
... Amniocentesis was performed because of multiple mal- formations detected at 12 weeks of gestation. The ultra- sonographic examination revealed fetal growth retardation, bilateral cleft lip and palate, right-sided ...
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SLC26A4 gene copy number variations in Chinese patients with non syndromic enlarged vestibular aqueduct
... Multiplex ligation-dependent probe amplification (MLPA) was used to screen for CNVs of the SLC26A4 gene in the present ...of multiple sequences (up to 45) with various copy num- ...by ...
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Identification of Salmonella enterica Serovar Typhi Genotypes by Use of Rapid Multiplex Ligation Dependent Probe Amplification
... Multiplex ligation-dependent probe amplifica- tion (MLPA) is a PCR method that permits multiple DNA se- quence targets to be amplified with a single primer pair ...
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Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability
... multiplex ligation-dependent probe amplification (MLPA) and array based comparative genomic hybridization (arrayCGH) techniques for the accurate assessment of copy number changes at ...
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Molecular identification of Clonorchis sinensis and discrimination with other opisthorchid liver fluke species using multiple Ligation depended Probe Amplification (MLPA)
... isothermal amplification (LAMP) [14] are particularly promising ...PCR amplification carries the risk of false-negative data, due to PCR inhibitors involved in complex samples ...simultaneous ...
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Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population
... [3–7]. Amplification of 21q has also been found in other hemato- poietic malignancies such as acute myeloid leukemia and disorders with complex karyotypes involving chromo- some 21, supporting the hypothesis that ...
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Application of Multiplex Ligation-Dependent Probe Amplification in Determining the Copy Number Alterations of HER Gene Family Members in Invasive Ductal Breast Carcinoma
... ERBB1 amplification occurred in ...co- amplification favor distant metastasis following initial surgery and are remarkably correlated with poor clinical outcome in BC patients ...in multiple studies ...
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Chromosome 9p21 gene copy number and prognostic significance of p16 in ESFT
... control probe target sequences will result in the allocation of an inaccurate test probe sequence copy ...control probe data set for a group of ...
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Original Article Screening of the copy number increase of AKT in lung carcinoma by custom-designed MLPA
... multiplex ligation-dependent probe am- plification analysis (MLPA) as a high-throughput method to evaluate copy number increases (CNIs) of AKT1/2 in lung ...
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Breast carcinomas with low amplified/equivocal HER2 by Ish: potential supporting role of multiplex ligation-dependent probe amplification
... HER2 amplification or gain in 14% of the latter ...of amplification by MLPA is due to a bias induced by the method itself or vice-versa MLPA was able to exactly identify only the fraction of the true ...
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Same Day Subtyping of Campylobacter jejuni and C coli Isolates by Use of Multiplex Ligation Dependent Probe Amplification–Binary Typing
... multiplex ligation-dependent probe amplification-binary typing (MBiT) assay was devel- oped for subtyping Campylobacter jejuni and Campylobacter ...
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A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
... Background: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur ...
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Rapid screening of innate immune gene expression in zebrafish using reverse transcription multiplex ligation dependent probe amplification
... Next we performed RT-MLPA analyses on samples from infection studies in embryos. Initial tests showed that the assay conditions developed for samples from M. marinum-infected adult fish were not applicable to sam- ples ...
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Multiplex ligation dependent probe amplification versus karyotyping in prenatal diagnosis: the M A K E study
... Background: In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor ...
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Multiplex Ligation Dependent Probe Amplification in X linked Recessive Muscular Dystrophy in Korean Subjects
... However, probe dysfunction, in- cluding ligation problems, can mimic exon deletion, as it pres- ents as reduced or absent ...from probe dysfunction, further direct sequencing was per- formed for all ...
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Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
... multiplex ligation-dependent probe amplifica- tion (MLPA) or quantitative fluorescent PCR (QF-PCR), are highly suited for rapid aneuploidy detection (RAD) of the chromosomes 21, 18, 13, X and Y ...
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Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations
... plex Ligation-dependent Probe Amplification (MLPA) is high-throughput, and enables analysis of more than 40 genomic locations simultaneously using only small (20 ng) amounts of DNA ...MLPA ...
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