Results 1 to 10 of about 29,787 (198)

Multiplex ligation-dependent probe amplification – a short overview

open access: yesRomanian Journal of Laboratory Medicine, 2020
Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when ...
Moldovan Valeriu, Moldovan Elena
doaj   +2 more sources

Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics

open access: yesBioTechniques, 2022
Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis tool which is routinely used to detect large mutations in genetic diseases.
Xiaoni Fu   +7 more
doaj   +3 more sources

MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays [PDF]

open access: yesBMC Research Notes, 2010
Background Multiplex ligation-dependent probe amplification (MLPA) was originally described as an efficient and reliable technique for gene dosage or DNA copy number variation (CNV) analysis.
Zhi Jizu
doaj   +3 more sources

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed? [PDF]

open access: yesFrontiers in Genetics, 2023
Introduction: Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study.
Africa Manero-Azua   +4 more
doaj   +2 more sources

Multiplex ligation-dependent probe amplification using a completely synthetic probe set

open access: yesBioTechniques, 2004
The recent development of multiplex ligation-dependent probe amplification (MLPA) has provided an efficient and reliable assay for dosage screening of multiple loci in a single reaction. However, a drawback to this method is the time-consuming process of
Rowena F. Stern   +5 more
doaj   +4 more sources

Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. [PDF]

open access: yesPLoS ONE, 2013
We performed a genome wide analysis of 164 urothelial carcinoma samples and 27 bladder cancer cell lines to identify copy number changes associated with disease characteristics, and examined the association of amplification events with stage and grade of
Yvonne Chekaluk   +8 more
doaj   +18 more sources

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) [PDF]

open access: yesBMC Bioinformatics, 2008
Background MLPA method is a potentially useful semi-quantitative method to detect copy number alterations in targeted regions. In this paper, we propose a method for the normalization procedure based on a non-linear mixed-model, as well as a new approach
Villatoro Sergi   +6 more
doaj   +4 more sources

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study [PDF]

open access: yesBMC Pregnancy and Childbirth, 2008
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.
Bhola Shama L   +19 more
doaj   +8 more sources

Concordance of copy number abnormality detection using SNP arrays and Multiplex Ligation-dependent Probe Amplification (MLPA) in acute lymphoblastic leukaemia. [PDF]

open access: yesSci Rep, 2020
In acute lymphoblastic leukaemia, MLPA has been used in research studies to identify clinically relevant copy number abnormality (CNA) profiles. However, in diagnostic settings other techniques are often employed.
Bashton M   +7 more
europepmc   +3 more sources

Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification [PDF]

open access: yesMitochondrial DNA. Part B. Resources, 2019
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS.
Lía Mayorga   +7 more
doaj   +3 more sources

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