Results 231 to 240 of about 18,361 (285)

Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

The Indian Journal of Pediatrics, 2011
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. Mutations in TSC2 gene are more common than in TSC1 gene and mostly they are in the form of large genomic deletions or duplications.
T, Padma Priya, Ashwin B, Dalal
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MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients

Biochemical Genetics, 2009
Subtelomeric rearrangements significantly contribute to idiopathic mental retardation and result in several mental retardation syndromes; however, most subtelomeric defects lack a characteristic phenotype. Thirty patients with unexplained mental retardation, a normal R banded karyotype at the 550 band, and no clinically recognizable syndrome were ...
Lamia, Hila, Hédia, Tébourbi, Leila, Abaied, Imène, Rejeb, Lamia, Ben Jemaa, Habiba, Chaabouni   +5 more
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MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

Human Mutation, 2007
Holoprosencephaly (HPE) is the most common developmental brain anomaly in human, associated with a wide spectrum of presentations. The etiology is heterogeneous, due to environmental and genetic factors. Out of 12 cytogenetic candidate loci previously reported, eight were subtelomeric, including the loci in which two of the four major HPE genes were ...
Claude, Bendavid, Christèle, Dubourg, Laurent, Pasquier, Isabelle, Gicquel, Simon, Le Gallou, Stéphanie, Mottier, Marie-Renée, Durou, Catherine, Henry, Sylvie, Odent, Véronique, David   +9 more
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MLPA for Prenatal Diagnosis of Commonly Occurring Aneuploidies

2008
Multiplex ligation-dependent probe amplification (MLPA) is a new method to determine the copy number of up to 45 genomic DNA sequences in a single multiplex polymerase chain reaction (PCR)-based reaction. In contrast to standard multiplex PCR, only one pair of PCR primers is used.
Schouten, Jan, Galjaard, Robert-Jan
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Multiplex Ligation-dependent Probe Amplification (MLPA)

2011
The Multiplex Ligation-dependent Probe Amplification (MLPA) is a PCR-based method. The procedure relies on sequence-specific probe hybridization of genomic DNA, followed by multiplex-PCR amplification of the hybridized probe and a semiquantitative analysis of the resulting PCR products.
Ana Pilar Berbegall, Eva Villamón, Samuel Navarro, Rosa Noguera   +3 more
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Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosis

Prenatal Diagnosis, 2012
ABSTRACTMultiplex ligation‐dependent probe amplification (MLPA) is a recent technique for the relative quantitation of up to 40 to 45 nucleic acid targets. Due to its relative simplicity, low cost, and availability of laboratory‐developed and more than 300 commercially‐developed assays, MLPA has become more widely used for both research and diagnostic ...
Alecia S, Willis, Ignatia, van den Veyver, Christine M, Eng   +2 more
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The Utilization of Karyotyping, iFISH, and MLPA for the Detection of Recurrence Genetic Aberrations in Multiple Myeloma

Asian Pacific Journal of Cancer Prevention, 2017
Multiple myeloma (MM) is a hematological malignancy characterized by abnormal accumulation of clonal plasma cells in the bone marrow. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for ...
Suchada Sommaluan, B. Rerkamnuaychoke, T. Pauwilai, S. Chancharunee, Preeyaporn Onsod, Pitichai Pornsarayuth, T. Chareonsirisuthigul, R. Tammachote, T. Siriboonpiputtana   +8 more
semanticscholar   +1 more source

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA)

2017
This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic DNA extracted from various sources using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).
Moelans, Cathy B., Atanesyan, Lilit, Savola, Suvi P, van Diest, Paul J.   +3 more
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MLPA and MAPH: Sensitive Detection of Deletions and Duplications

Current Protocols in Human Genetics, 2006
AbstractThe detection of quantitative changes in genomic DNA, i.e., deletions and duplications or so called Copy Number Variants (CNV), is an important element of a complete mutation screening strategy. However, because of practical difficulties, screening for quantitative changes in genomic DNA is often ignored. Hitherto, the techniques available were
Johan T, den Dunnen, Stefan J, White
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MLPA mutation detection in Argentine HNPCC and FAP families

Familial Cancer, 2008
Colorectal cancer (CC) is the secondary cause of death in the Western countries of which approximately 15% are considered to be hereditary. The hereditary forms are Familial Adenomatous Polyposis (FAP) and Hereditary Non Polyposis Colorectal Cancer (HNPCC) which is the commonest form.
Gomez, Laura C., Marzese, Diego M., Adi, Jose, Bertani, Diego, Ibarra, Jorge, Mol, Bart, Vos, Ivonne Johanna, De Marchi, Gabriela, Roque, Maria   +8 more
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