Results 31 to 40 of about 18,361 (285)
Multiplex ligation-dependent probe amplification – a short overview
Romanian 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 +1 more source
Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics
BioTechniques, 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 +1 more source
Radiology and Oncology, 2017 Identifying the early genetic drivers can help diagnose glioma tumours in their early stages, before becoming malignant. However, there is emerging evidence that disturbance of epigenetic mechanisms also contributes to cell’s malignant transformation and
Matjasic Alenka +3 more
doaj +1 more source
Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences [PDF]
Nucleic Acids Research, 2005 Copy number changes and CpG methylation of various genes are hallmarks of tumor development but are not yet widely used in diagnostic settings. The recently developed multiplex ligation-dependent probe amplification (MLPA) method has increased the possibilities for multiplex detection of gene copy number aberrations in a routine laboratory.
Nygren, AOH +7 more
openaire +3 more sources
Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
Mitochondrial 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 +1 more source
Endokrynologia Polska, 2019 INTRODUCTION Maturity onset diabetes of the young (MODY) is a rare form of monogenic diabetes. Being clinically and genetically heterogeneous, it is often misdiagnosed as type 1 or type 2 diabetes, leading to inappropriate therapy.
J. Komazec +6 more
semanticscholar +1 more source
JCRPE, 2020 Objective:SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short ...
Semra Gürsoy +7 more
doaj +1 more source
PeerJ, 2019 Background Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection are
P. Capkova +10 more
semanticscholar +1 more source
A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. [PDF]
Mol Genet Genomic MedMinigene splicing assays elucidated the pathogenicity of a novel intronic c.3717+5G>A mutation in the PCDH15 gene, which was identified in a family affected by Usher syndrome type 1F. The results demonstrated that the c.3717+5G>A mutation can lead to exon 27 skipping and retention of 51 bp at the 5′ end of intron 27, resulting in truncated or abnormal ...
Ma Q, Xu C, Xu X, Xiang Y.
europepmc +2 more sources
Optimal Fixation Conditions and DNA Extraction Methods for MLPA Analysis on FFPE Tissue-Derived DNA
American Journal of Clinical Pathology, 2017 Objectives: Molecular genetic analysis of formalin-fixed, paraffin-embedded (FFPE) tissues is of great importance both for research and diagnostics. Multiplex ligation-dependent probe amplification (MLPA) is a widely used technique for gene copy number ...
L. Atanesyan +5 more
semanticscholar +1 more source