Results 61 to 70 of about 18,361 (285)

Deletion and duplication screening in the DMD gene using MLPA [PDF]

European Journal of Human Genetics, 2005
We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. We validated the assay by screening 123 unrelated patients from Serbia and Montenegro already screened using multiplex PCR.
Tanja, Lalic, Rolf H A M, Vossen, Jordy, Coffa, Jan P, Schouten, Marija, Guc-Scekic, Danijela, Radivojevic, Marina, Djurisic, Martÿn H, Breuning, Stefan J, White, Johan T, den Dunnen   +9 more
openaire   +2 more sources

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example

The Scientific World Journal, 2010
Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis method that is routinely used to identify large mutations in many clinical and research labs.
Malgorzata Marcinkowska, Kwok-Kin Wong, David J. Kwiatkowski, Piotr Kozlowski   +3 more
doaj   +1 more source

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

Advanced Biomedical Research, 2014
Background: The Duchenne muscular dystrophy (DMD) gene is located in the short arm of the X chromosome (Xp21). It spans 2.4 Mb of the human genomic DNA and is composed of 79 exons.
Nayereh Nouri, Esmat Fazel-Najafabadi, Mansoor Salehi, Majid Hosseinzadeh, Mahdieh Behnam, Mohammad Reza Ghazavi, Maryam Sedghi   +6 more
doaj   +1 more source

Metastatic potential of small posterior uveal melanomas

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the prevalence of aggressive traits in small posterior uveal melanomas (UM). Methods This retrospective, multicentre cohort study included 804 patients with small posterior UM (≤9 mm in largest basal diameter, ≤3 mm in thickness) from centres in the UK, Germany, and Sweden.
Gustav Stålhammar, Helen Kalirai, Sarah E. Coupland, Salvatore Grisanti, Svenja Rebecca Sonntag, Ayseguel Tura, Antonio Eleuteri, Rumana N. Hussain, Heinrich Heimann, Hannah Coudé Adam   +9 more
wiley   +1 more source

MLPA for confirmation of array CGH results and determination of inheritance

Molecular Cytogenetics, 2010
Background Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of parental samples to determine ...
Thomas Helen, Donaghue Celia, Ahn Joo, Hills Alison, Mann Kathy, Ogilvie Caroline   +5 more
doaj   +1 more source

Methylation pattern analysis in prostate cancer tissue: identification of biomarkers using an MS-MLPA approach

Journal of Translational Medicine, 2016
BackgroundEpigenetic silencing mediated by CpG island methylation is a common feature of many cancers. Characterizing aberrant DNA methylation changes associated with prostate carcinogenesis could potentially identify a tumour-specific methylation ...
G. Gurioli, S. Salvi, Filippo Martignano, F. Foca, R. Gunelli, M. Costantini, G. Cicchetti, U. de Giorgi, P. D. Sbarba, D. Calistri, V. Casadio   +10 more
semanticscholar   +1 more source

Disease-related gene module detection based on a multi-label propagation clustering algorithm. [PDF]

PLoS ONE, 2017
Detecting disease-related gene modules by analyzing gene expression data is of great significance. It is helpful for exploratory analysis of the interaction mechanisms of genes under complex disease phenotypes. The multi-label propagation algorithm (MLPA)
Xue Jiang, Han Zhang, Xiongwen Quan, Zhandong Liu, Yanbin Yin   +4 more
doaj   +1 more source

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for WHO CNS5 adult‐type diffuse gliomas

Brain Pathology, EarlyView.
ADAPTR recommendations for Adult‐type Diffuse Gliomas in Resource‐restrained settings. Abstract The fifth edition of the WHO classification of CNS Tumors (WHO CNS5) has revised the diagnostic and grading criteria for Adult‐type Diffuse Gliomas (ADGs) by integrating molecular parameters with histologic features.
Vani Santosh, Chitra Sarkar, Shilpa Rao, Ho‐Keung Ng, Junji Shibahara, Maysa Al‐Hussaini, Michael E. Buckland, Sung‐Hye Park, Tarik Tihan, Pieter Wesseling, David N. Louis, Takashi Komori   +11 more
wiley   +1 more source

A simple way to evaluate self-designed probes for tumor specific Multiplex Ligation-dependent Probe Amplification (MLPA)

BMC Research Notes, 2010
Background The Multiplex Ligation-dependent Probe Amplification (MLPA) is widely used for analysis of copy number variations (CNVs) in single or multiple loci.
Wiechec Emilia, Pedersen Kristina, Madsen Bo E, Overgaard Jens, Hansen Lise   +4 more
doaj   +1 more source