Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis [PDF]
Molecular Cytogenetics, 2011 Background Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques.
Hamers Guus +5 more
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Journal of Genetic Engineering and Biotechnology, 2021 Background Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia. This disease is genetically heterogeneous, and approximately 85% of patients with CLL harbor chromosomal aberrations that are considered effective prognostic ...
Ola M. Eid +6 more
doaj +2 more sources
Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study [PDF]
BMC Cancer, 2016 Triple-negative breast cancer (TNBC) with a BRCA1-like molecular signature has been demonstrated to remarkably respond to platinum-based chemotherapy and might be suited for a future treatment with poly(ADP-ribose)polymerase (PARP) inhibitors.
Eva Groß +14 more
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Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Genetics and Molecular Biology, 2017 Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to ...
N. O. Mota +9 more
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Memorias do Instituto Oswaldo Cruz, 2017 BACKGROUND To cope with the emergence of multidrug-resistant tuberculosis (MDR-TB), new molecular methods that can routinely be used to screen for a wide range of drug resistance related genetic markers in the Mycobacterium tuberculosis genome are ...
Paula Fernanda Gonçalves dos Santos +13 more
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BMC Bioinformatics, 2010 Background Multiplex Ligation-Dependent Probe Amplification (MLPA) is an application that can be used for the detection of multiple chromosomal aberrations in a single experiment. In one reaction, up to 50 different genomic sequences can be analysed. For
Morreau Hans +6 more
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Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH) [PDF]
Molecular Cytogenetics, 2014 BackgroundBanding-karyotyping and metaphase-directed-fluorescence-in-situhybridization (FISH) may be hampered by low mitotic index in leukemia. Interphase FISH (iFISH) is a way out here, however, testing many probes at the same time is protracted and ...
Eyad Alhourani +6 more
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International journal of molecular and cellular medicine, 2016 Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD).
Saghar Ghasemi Firouzabadi +14 more
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PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication [PDF]
Case Reports in Genetics, 2015 The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions and ...
Angelika J. Dawson +3 more
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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) [PDF]
Journal of Medical Genetics, 2004 David A. Koolen +12 more
exaly +2 more sources