Results 261 to 270 of about 29,886 (297)

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia

Neurology, 2007
Subcortical band heterotopia (SBH, or double cortex syndrome) is a neuronal migration disorder consisting of heterotopic bands of gray matter located between the cortex and the ventricular surface, with or without concomitant pachygyria. Most cases show diffuse or anteriorly predominant (A>P) migration abnormality.
Mei D, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, GUERRINI, RENZO   +8 more
openaire   +5 more sources

Multiplex ligation‐dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

Clinical Genetics, 2005
Subtelomeric rearrangements are believed to be responsible for 5–7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the more severely affected cases have been screened.
Rooms, L, Reyniers, E, Wuyts, W, Storm, K, van Luijk, R, Scheers, S, Wauters, J, van den Ende, J, Biervliet, M, Eyskens, F, van Goethem, G, Laridon, A, Ceulemans, B, Courtens, W, Kooy, R F   +14 more
openaire   +4 more sources

Multiplex ligation-dependent probe amplification (MLPA) for ultrasensitive multiplexed microRNA detection using ribonucleotide-modified DNA probes

Chemical Communications, 2013
Using the ribonucleotide-modified DNA probes, multiple microRNAs can be simultaneously detected in one ligation-based PCR reaction. As low as 0.2 fM microRNA can be accurately detected with high specificity.
Pengbo, Zhang, Ye, Liu, Yajing, Zhang, Chenghui, Liu, Zhibin, Wang, Zhengping, Li   +5 more
openaire   +2 more sources

Detection of α-thalassemia mutations by Multiplex ligation-dependent probe amplification

Ministry of Science and Technology, Vietnam, 2023
Vietnam is a country with a high rate of people carrying α-globin gene mutations, therefore, it is highly important to screen for α-thalassemia carriers, especially in couples with one diagnosed α-carrier, in order to prevent and avoid having α-thalassemia major offspring.
Thi Phuong Le, Vu Viet Ha Vuong, Van Khanh Tran   +2 more
openaire   +1 more source

[Multiplex ligation-dependent probe amplification and its application].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
Multiplex ligation-dependent probe amplification (MLPA) is a semiquantitative analysis based on polymerase chain reaction (PCR). It possesses many advantages such as high efficiency, simple operation, low cost and has been wildly applied in researches of diseases associated with copy number variation, point mutation and methylation.
Da-wen, Zhou, Zhao-rui, Ren
openaire   +1 more source

Multiplex ligation-dependent probe amplification for HER2 testing in breast cancer

Expert Review of Molecular Diagnostics, 2011
The amplification of the human EGF receptor 2 (HER2) gene is the underlying mechanism for HER2 overexpression in breast cancer.
openaire   +3 more sources

Multiplex, Quantitative, Ligation-Dependent Probe Amplification for Determination of Allergens in Food

Journal of Agricultural and Food Chemistry, 2011
Legislation requires labeling of foods containing allergenic ingredients. Here, we present a robust 10-plex quantitative and sensitive ligation-dependent probe amplification method, the allergen-multiplex ligation-dependent probe amplification (MLPA) method, for specific detection of eight allergens: sesame, soy, hazelnut, peanut, lupine, gluten ...
Stina L, Mustorp, Signe M, Drømtorp, Askild L, Holck   +2 more
openaire   +2 more sources

Amplification Testing in Breast Cancer by Multiplex Ligation-Dependent Probe Amplification of Microdissected Tissue

2011
This chapter describes a method for the rapid assessment of gene copy numbers in laser-microdissected materials using multiplex ligation-dependent probe amplification (MLPA). An MLPA is a powerful multiplex PCR technique that can identify gains, amplification, or losses of up to 50 genes in a single experiment, thereby requiring only minute quantities ...
Cathy B, Moelans, Roel A, de Weger, Paul J, van Diest   +2 more
openaire   +2 more sources

Verification of Multiplex Ligation-Dependent Probe Amplification Probes in the Absence of Positive Samples

Genetic Testing and Molecular Biomarkers, 2011
Deletions and duplications of single or multiple exons in specific genes are associated with human diseases. Multiplex ligation-dependant probe amplification (MLPA), a technique recently introduced to clinical laboratories, can detect deletions or duplications at the exon level.
Whitney, Wooderchak-Donahue, Cecily, Vaughn, Lan-Szu, Chou, Tracey, Lewis, Kelli, Sumner, Melinda, Procter, Friederike, Gedge, Pinar, Bayrak-Toydemir, Elaine, Lyon, Genevieve, Pont-Kingdon   +9 more
openaire   +2 more sources

Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies

2018
Multiplex Ligation-dependent Probe Amplification (MLPA) is a method to determine the copy number of up to 60 genomic DNA sequences in a single multiplex PCR based reaction.MLPA probes consist of two oligonucleotides that can hybridize next to each other on a certain DNA sequence of interest, where they are ligated.
Jan, Schouten, Paul, van Vught, Robert-Jan, Galjaard   +2 more
openaire   +2 more sources