Results 101 to 110 of about 18,361 (285)

Detection of HER2 Amplification in Breast Carcinomas: Comparison of Multiplex Ligation-Dependent Probe Amplification (MLPA) and Fluorescence In Situ Hybridization (FISH) combined with Automated Spot Counting

Cellular Oncology, 2006
In this study the detection of HER2 gene amplification was evaluated using Fluorescence In Situ Hybridization (FISH; PathVysion) in comparison with Multiplex Ligation-dependent Probe Amplification (MLPA), a PCR based technique.
Elna Moerland, Rens L. H. P. M. van Hezik, Toine C. J. M. van der Aa, Mike W. P. M. van Beek, Adriaan J. C. van den Brule   +4 more
doaj   +1 more source

Blinatumomab in de novo AYA ALL—Results of the Australasian Leukaemia and Lymphoma Group ALL09 “SUBLIME” study

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Pediatric regimens improve outcomes in adolescent and young adult (AYA) acute lymphoblastic leukemia (ALL) patients. End‐consolidation (time point 2 [TP2]) minimal residual disease negativity (MRDneg) is associated with improved survival. In this study, standard consolidation chemotherapy was replaced with blinatumomab to improve TP2 MRDneg—a ...
Matthew Greenwood, Shane Gangatharan, Michael Osborn, Ashley P. Ng, Shaun Fleming, Pasquale Fedele, Toby Trahair, John Casey, Sally Mapp, Carol Cheung, Tasman Armytage, Michelle Henderson, Rosemary Sutton, Jacqueline Rehn, Elyse Page, Susan Heatley, Peter Button, Leesa Rowley, Stephen R. Larsen, Peter Presgrave, John Kwan, Samuel Bennett, Chun Yew Fong, Luciano Dalla Pozza, David Yeung, Deborah White, the Australasian Leukaemia and Lymphoma Group   +26 more
wiley   +1 more source

Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas

Revista Peruana de Medicina Experimental y Salud Pública, 2019
Las distrofias musculares de Duchenne/Becker son enfermedades raras que reciben poca atención en nuestro medio. El objetivo del presente estudio fue implementar la técnica de amplificación múltiple dependiente de ligación por sondas (MLPA) y demostrar ...
Francia DP Huaman-Dianderas, María Luisa Guevara-Fujita, DIana Rojas Málaga, Alejandro Estrada-Cuzcano, Ricardo Fujita   +4 more
doaj   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Comparison of multiplex ligation-dependent probe amplification and real-time PCR accuracy for gene copy number quantification using the β-defensin locus

BioTechniques, 2009
The reliable quantification of gene copy number variations is a precondition for future investigations regarding their functional relevance. To date, there is no generally accepted gold standard method for copy number quantification, and methods in ...
Andrea Perne, XiangHong Zhang, Lutz E. Lehmann, Marco Groth, Frank Stuber, Malte Book   +5 more
doaj   +1 more source

Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population

Molecular Cytogenetics, 2015
BackgroundAn intrachromosomal amplification of chromosome 21 (iAMP21) defines a unique subgroup of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The finding of three or more extra copies of the RUNX1 gene by fluorescence in situ hybridization (
G. Fuka, Tállita M. Farias-Vieira, Leticia Hummel, C. B. Blunck, Júlio C Santoro, E. Terra-Granado, Thayana Conceição Barbosa, M. Emerenciano, M. Pombo-de-Oliveira   +8 more
semanticscholar   +1 more source

Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High‐Risk Pediatric Populations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Early genetic screening for Fanconi anemia in high‐risk pediatric populations enables timely diagnosis and intervention, significantly improving patient outcomes. Our study highlights the prevalence of undiagnosed cases and the critical role of FANCA gene mutations in effective screening strategies. ABSTRACT Introduction Fanconi anemia (FA) is the most
Adnan A. Sedeeq Al‐Doski
wiley   +1 more source

Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses [PDF]

, 2012
Sandra Herman, Dominic Varga, Heidrun L. Deissler, R. Kreienberg, Helmut Deißler   +4 more
openalex   +1 more source

Sleep Duration and Self-Rated Health are Independently Associated with Physical Activity Level in the Korean Population.

Iranian Journal of Public Health, 2014
The purpose of this study was to examine the relationship of physical activity levels with sleep duration (SD), and self-rated health (SRH) using the fifth Korean National Health and Nutrition Examination Survey data from 2010 and 2011.Overall, 12,188 ...
Kang-Ok Cho
doaj  

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang, Wenjing Bai, Xiaohe Cai, Sheng Huang, Jiangzhong Zeng, Xiaoting Liang, Xutao Hong   +6 more
wiley   +1 more source