Relevant bibliographies by topics / Ligation-dependent probe amplification

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  2. Dissertations / Theses
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Academic literature on the topic 'Ligation-dependent probe amplification'

Author: Grafiati
Published: 4 June 2025
Last updated: 1 August 2025

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Journal articles on the topic "Ligation-dependent probe amplification"

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Jeuken, Judith, Sandra Cornelissen, Sandra Boots-Sprenger, Sabine Gijsen, and Pieter Wesseling. "Multiplex Ligation-Dependent Probe Amplification." Journal of Molecular Diagnostics 8, no. 4 (2006): 433–43. http://dx.doi.org/10.2353/jmoldx.2006.060012.

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UNO, Naoki, and Katsunori YANAGIHARA. "Ligation-Independent Mechanism of Multiplex Ligation-Dependent Probe Amplification." Analytical Sciences 30, no. 8 (2014): 805–10. http://dx.doi.org/10.2116/analsci.30.805.

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Talavera Vargas-Machuca, Sergio, Ismenia Gamboa Oré, Francia Huamán Dianderas, Ricardo Fujita Alarcón, María Luisa Fajardo Loo, and María Luisa Guevara Gil. "Diagnóstico molecular de síndrome de Smith-Magenis por MLPA (Multiplex Ligation-dependent Probe Amplification)." Horizonte Médico (Lima) 17, no. 3 (2017): 73–78. http://dx.doi.org/10.24265/horizmed.2017.v17n3.12.

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Moldovan, Valeriu, and Elena Moldovan. "Multiplex ligation-dependent probe amplification – a short overview." Revista Romana de Medicina de Laborator 28, no. 2 (2020): 123–31. http://dx.doi.org/10.2478/rrlm-2020-0016.

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AbstractMultiplex 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 compared with techniques traditionally used, namely karyotyping, fluorescence in situ hybridization, and array comparative genomic hybridization. Multiplex Ligation-dependent Probe Amplification is a fast (about 2 days), useful and cost-effective technique, being suitable for the diagnosis of hereditary conditions caused by complete or
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Yong Zhang, David, Margaret Brandwein, Terence Chun Hung Hsuih, and Hongbo Li. "Amplification of target-specific, ligation-dependent circular probe." Gene 211, no. 2 (1998): 277–85. http://dx.doi.org/10.1016/s0378-1119(98)00113-9.

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Toksoy, Güven, Birsen Karaman, Zehra Oya Uyguner, et al. "APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE." İstanbul Tıp Fakültesi Dergisi 82, no. 1 (2019): 5–11. http://dx.doi.org/10.26650/iuitfd.413596.

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Stern, Rowena F., Roland G. Roberts, Kathy Mann, Shu C. Yau, Jonathan Berg, and Caroline Mackie Ogilvie. "Multiplex ligation-dependent probe amplification using a completely synthetic probe set." BioTechniques 37, no. 3 (2004): 399–405. http://dx.doi.org/10.2144/04373st04.

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Chou, Lan-Szu, Elaine Lyon, and Rong Mao. "Molecular diagnosis utility of multiplex ligation-dependent probe amplification." Expert Opinion on Medical Diagnostics 2, no. 4 (2008): 373–85. http://dx.doi.org/10.1517/17530059.2.4.373.

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Martínez-Glez, Víctor, Carmen Franco-Hernández, Jesús Lomas, et al. "Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma." Cancer Genetics and Cytogenetics 173, no. 2 (2007): 170–72. http://dx.doi.org/10.1016/j.cancergencyto.2006.09.011.

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Ewald, Christian, Thomas Hofmann, Susanne A. Kuhn, Thomas Deufel, Christian Beetz, and Rolf Kalff. "Methylation-specific multiplex ligation-dependent probe amplification in meningiomas." Journal of Neuro-Oncology 90, no. 3 (2008): 267–73. http://dx.doi.org/10.1007/s11060-008-9672-8.

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Dissertations / Theses on the topic "Ligation-dependent probe amplification"

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Suemasu, Cintia Natsumi. "Caracterização dos genótipos da talassemia alfa delecional por MLPA (Multiplex Ligation-Dependent Probe Amplification)." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308947.

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Orientador: Maria de Fátima Sonati<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-16T20:41:19Z (GMT). No. of bitstreams: 1 Suemasu_CintiaNatsumi_M.pdf: 6481597 bytes, checksum: f9093ca98b4efb60bfe4f81a7e80efee (MD5) Previous issue date: 2010<br>Resumo: A talassemia alfa (a) constitui um grupo de doenças hereditárias causadas pela redução ou ausência da síntese das cadeias 'alfa' da hemoglobina. Os genes responsáveis pela codificação dessas cadeias são duplicados ('alfa' 2 e 'alfa'1) e estão localizados em um
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蘇昭燕 and Chiu-yin So. "Molecular characterization of large deletions in beta globin gene cluster using multiplex ligation-dependent probe amplification." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B40738164.

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So, Chiu-yin. "Molecular characterization of large deletions in beta globin gene cluster using multiplex ligation-dependent probe amplification." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B40738164.

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Cohn, Dianne Marie. "Utilizing multiplex ligation-dependent probe amplification to detect novel x-linked microduplications which cause intellectual disability." Connect to this title online, 2008. http://etd.lib.clemson.edu/documents/1239894829/.

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Claesson, Cim. "Is Multiplex Ligation-dependent Probe Amplification a good method for screening formalin fixed paraffin embedded neuroblastoma tumors?" Thesis, Högskolan i Skövde, Institutionen för vård och natur, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-5442.

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Neuroblastoma is one of the most enigmatic solid tumors for scientists and pediatric oncologists. Neuroblastoma is primary a childhood form of cancer, consisting of neuroectodermal cells that originate from the neural crest and is destined for the  adrenal medulla and sympathetic nervous system. The Neuroblastoma group at The University of Gothenburg received formalin-fixed paraffin-embedded  tumor samples from Vietnam and this project was to examine if the quality of the DNA from, is good enough to run comparative genome hybridization array experiment  on by using a cheaper technique Multiple
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Honjo, Rachel Sayuri. "Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-13082012-100426/.

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INTRODUÇÃO: A síndrome de Williams-Beuren (SWB) é uma doença genética causada por uma microdeleção na região 7q11.23 e caracterizada por dismorfismos faciais típicos, deficiência intelectual, comportamento hipersociável, cardiopatia congênita, principalmente a estenose aórtica supravalvar (EASV), e outras malformações variáveis. MÉTODOS: Foram avaliados 65 pacientes (40 do sexo masculino, 25 do sexo feminino), com idades entre 2 e 59 anos (mediana = 14 anos), com características clínicas sugestivas de SWB. Todos os pacientes eram filhos de pais normais. A técnica de Multiplex Ligation-dependen
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Saathoff, Katharina [Verfasser]. "Deletion Mapping and Phenotype-Genotype Analysis by Multiplex Ligation-dependent Probe Amplification in German Patients with Williams-Beuren-Syndrome / Katharina Saathoff." Hamburg : Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky, 2020. http://d-nb.info/1237415020/34.

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O'Brien, Michelle. "Detection of large deletions in the factor VIII (F8) and von Willebrand factor (VWF) genes using multiplex ligation-dependent probe amplification (MLPA)." Thesis, Manchester Metropolitan University, 2013. http://e-space.mmu.ac.uk/314016/.

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Haemophilia A and von Willebrand Disease (VWD) are disorders which can cause mild to severe bleeding in an individual. In many cases, knowledge of the molecular basis of these disorders is required to enable appropriate genetic counselling within families, carrier diagnosis and, in some cases, prenatal diagnosis. The current ‘gold standard’ for diagnosing patients with Haemophilia A and VWD disorders is by direct sequencing of genomic DNA to identify mutations. However this method may not reveal the presence of larger heterozygous deletions or duplications of F8 and VWF due to masking by an un
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Dutra, Roberta Lelis. "Investigação da variação no número de cópias genômicas (CNVs) em pacientes com anomalias congênitas e atraso de desenvolvimento neuropsicomotor (ADNPM) pela técnica de MLPA (Multiplex Ligation-dependent Probe Amplification)." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-25112014-120744/.

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INTRODUÇÃO: Os desequilíbrios genômicos constituem causa frequente de abortamento, anomalias congênitas (AC) e atraso de desenvolvimento neuropsicomotor (ADNPM). O aprimoramento de novas técnicas de diagnóstico citogenômico, como por exemplo, a MLPA (Multiplex Ligation-dependent Probe Amplification) e a triagem ampla do DNA utilizando arrays, mostraram que a alteração no número normal de cópias genômicas (CNVs) influencia na patogenicidade dos fenótipos em diversas síndromes. OBJETIVOS: Com isso, os objetivos do presente estudo foram identificar CNVs em pacientes com MC e ADNPM utilizando a té
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Haoud, Khadidja. "Etude de la prévalence des aneuploïdies dans les produits d'avortements spontanés : intéret des techniques FISH et MLFA pour la détection des remaniements chromosomiques." Thesis, Clermont-Ferrand 1, 2014. http://www.theses.fr/2014CLF1MM29/document.

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L’avortement spontané (AS) désigne la perte du produit de conception avant sa viabilité, c'est-à-dire avant la 22e semaine d’aménorrhée, ou un poids fœtal inférieur à 500 g. La cause génétique est à l’origine de plus des deux tiers des AS, les aneuploïdies autosomiques, représentant à elles seules jusqu’à 70% des pertes fœtales du 1er trimestre. Le caryotype présente une très bonne sensibilité en ce qui concerne le dépistage des trisomies autosomiques (13, 18 et 21) et des aneuploïdies affectant les chromosomes sexuels, mais il montre d’importantes limites, d’une part en raison des échecs de c
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Book chapters on the topic "Ligation-dependent probe amplification"

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Berbegall, Ana Pilar, Eva Villamón, Samuel Navarro, and Rosa Noguera. "Multiplex Ligation-dependent Probe Amplification (MLPA)." In Guidelines for Molecular Analysis in Archive Tissues. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-17890-0_33.

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Moelans, Cathy B., Lilit Atanesyan, Suvi P. Savola, and Paul J. van Diest. "Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA)." In Methods in Molecular Biology. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-7481-8_27.

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Moelans, Cathy B., Roel A. de Weger, and Paul J. van Diest. "Amplification Testing in Breast Cancer by Multiplex Ligation-Dependent Probe Amplification of Microdissected Tissue." In Methods in Molecular Biology. Humana Press, 2011. http://dx.doi.org/10.1007/978-1-61779-163-5_9.

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Schouten, Jan, Paul van Vught, and Robert-Jan Galjaard. "Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies." In Prenatal Diagnosis. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8889-1_11.

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de Boer, Suzan, and Stefan J. White. "Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA)." In Methods in Molecular Biology. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-6442-0_9.

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Monteagudo-Sánchez, Ana, Intza Garin, Guiomar Perez de Nanclares, and David Monk. "The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation." In Methods in Molecular Biology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7768-0_6.

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Dalay, Nejat. "Detection of RB1 Gene Copy Number Variations Using a Multiplex Ligation-Dependent Probe Amplification Method." In Methods in Molecular Biology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7565-5_2.

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van Diest, Paul J., C. B. Moelans, D. Purnomosari, G. Pals, and R. A. de Weger. "Invasive Breast Cancer: Overexpression of HER-2 Determined by Immunohistochemistry and Multiplex Ligation-Dependent Probe Amplification." In Methods of Cancer Diagnosis, Therapy and Prognosis. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-8369-3_22.

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Os, Petra G. C. Eijk Van, and Jan P. Schouten. "Multiplex Ligation-Dependent Probe Amplification (MLPA®) for the Detection of Copy Number Variation in Genomic Sequences." In Methods in Molecular Biology. Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60761-947-5_8.

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Ferri, Lorenzo, Anna Caciotti, Catia Cavicchi, et al. "Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance." In JIMD Reports. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/8904_2012_125.

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Conference papers on the topic "Ligation-dependent probe amplification"

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DORTA FERREIRA, ROBERTA, MARIA DE FATIMA SONATI, NATÁLIA DE OLIVEIRA MOTA, et al. "Investigação de Deleções Talassêmicas Raras por Multiplex Ligation-dependent Probe Amplification (MLPA)." In XXIV Congresso de Iniciação Científica da UNICAMP - 2016. Galoa, 2016. http://dx.doi.org/10.19146/pibic-2016-50648.

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van Slooten, H.-J., CC Kuijpers, CB Moelans, et al. "Abstract PD02-03: Added value of HER-2 amplification testing by multiplex ligation-dependent probe amplification (MLPA)." In Abstracts: Thirty-Fifth Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 4‐8, 2012; San Antonio, TX. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/0008-5472.sabcs12-pd02-03.

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Rand, Casey M., Erin E. West, Min Yu, Debra E. Weese-Mayer, and Lawrence Jennings. "Multiplex Ligation-Dependent Probe Amplification To Detect Deletions And Duplications In The Ret Gene In Sudden Infant Death Syndrome Cases." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a3707.

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van Diest, P., C. Moelans, H. Monsuur, and R. de Weger. "Quantitative Copy Number Analysis of Onco- and Tumor Suppressor Genes in Invasive Breast Cancer by Dedicated Multiplex Ligation-Dependent Probe Amplification." In Abstracts: Thirty-Second Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 10‐13, 2009; San Antonio, TX. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-09-5168.

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Vieira, LL, GFS Carvalho, BM Wolff, YG Oliveira, and VT Almeida. "USING THE INFINIUM GLOBAL SCREENING ARRAY PLATFORM FOR CNVS DETECTION." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.5804.

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Objective: Copy number variations (CNVs) play important role in the development of many complex phenotypic traits. Cytogenomic CNVs analyses using Infinium CytoSNP-850K bead chips (Illumina) providing comprehensive genome-wide coverage across a screen of 850,000 probes and commonly applied at routine laboratories. However, there are other platforms for genotyping assays, such as the Global Screening Array BeadChip (GSA), which uses the same beadarray technology to detect single-base polymorphisms (SNP) with 650,000 probes. In this sense, we compared the effectivity of CNVs detection by GSA pla
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