Results 41 to 50 of about 29,886 (297)

Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism

European Journal of Neurology, 2023
AbstractBackground and purposeThe monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation‐dependent probe amplification (MLPA) as a primary screening test and to propose
Mutez, Eugénie, Swiderski, M., Devos, D., Moreau, C., Baille, G., Degardin, A., Ryckewaert, G., Carriere, N., Kreisler, A., Simonin, C., Rouaix, N., Tir, M., Krystkowiak, P., Ramdane, N., Génin, M., Sablonnière, B., Defebvre, L., Huin, V.   +17 more
openaire   +5 more sources

Added value of HER-2 amplification testing by multiplex ligation-dependent probe amplification in invasive breast cancer. [PDF]

PLoS ONE, 2013
BackgroundHER-2 is a prognostic and predictive marker, but as yet no technique is perfectly able to identify patients likely to benefit from HER-2 targeted therapies.
Chantal C H J Kuijpers, Cathy B Moelans, Henk-Jan van Slooten, Anja Horstman, John W J Hinrichs, Shaimaa Al-Janabi, Paul J van Diest, Mehdi Jiwa   +7 more
doaj   +1 more source

Analysis of extended genomic rearrangements in oncological research. [PDF]

, 2007
Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes.
ACETO GM, CAMA A., COLUCCI G, CURIA MC, DE LELLIS L, MARIANI COSTANTINI R, RUSSO, Antonio, TORACCHIO S   +7 more
core   +1 more source

Genotypic Profiling of 452 Choroidal Melanomas with Multiplex Ligation-Dependent Probe Amplification [PDF]

Clinical Cancer Research, 2010
Abstract Purpose: Metastasis from uveal melanoma occurs almost exclusively with tumors showing chromosome 3 loss. We used multiplex ligation-dependent probe amplification (MLPA) to detect chromosome 1p, 3, 6p, 6q, 8p, and 8q abnormalities in uveal melanomas.
Bertil, Damato, Justyna A, Dopierala, Sarah E, Coupland   +2 more
openaire   +2 more sources

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

Journal of Lipid Research, 2005
Autosomal dominant (AD) familial hypercholesterolemia [FH; Mendelian Inheritance in Man (MIM) 143890] typically results from mutations in the LDL receptor gene (LDLR), which are now commonly diagnosed using exon-by-exon screening methods, such as exon-by-
Jian Wang, Matthew R. Ban, Robert A. Hegele   +2 more
doaj   +1 more source

Multi-color fluorescent DNA analysis in an optofluidic chip [PDF]

, 2011
Modulation-frequency-encoded fluorescence excitation enables the identification of end-labeled DNA samples of different genetic origin during their electrophoretic separation, opening perspectives for intrinsic size calibration, malign / healthy sample ...
Dongre, C., Hoekstra, H.J.W.M., Pollnau, M.   +2 more
core   +1 more source

LINC01116, a hypoxia‐lncRNA marker of pathological lymphangiogenesis and poor prognosis in lung adenocarcinoma

Molecular Oncology, EarlyView.
The LINC01116 long noncoding RNA is induced by hypoxia and associated with poor prognosis and high recurrence rates in two cohorts of lung adenocarcinoma patients. Here, we demonstrate that besides its expression in cancer cells, LINC01116 is markedly expressed in lymphatic endothelial cells of the tumor stroma in which it participates in hypoxia ...
Marine Gautier‐Isola, Rafael Lopes Goncalves, Marin Truchi, Caroline Lacoux, Célia Scribe, Hugo Cadis, Laetitia Guardini, Sophie Bekisz, Marius Ilié, Paul Hofman, Georges Vassaux, Bernard Mari, Roger Rezzonico   +12 more
wiley   +1 more source

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. [PDF]

, 2007
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by ...
ACETO G, BARBERA, Floriana, BATTISTA P, BAZAN, Viviana, CALO', Valentina, CAMA A, GATTA V, MARIANI COSTANTINI, PALKA G, R, RUSSO, Antonio, SCIOLETTI AP, STUPPIA L., VESCHI S   +13 more
core   +1 more source

Recurrent cancer‐associated ERBB4 mutations are transforming and confer resistance to targeted therapies

Molecular Oncology, EarlyView.
We show that the majority of the 18 analyzed recurrent cancer‐associated ERBB4 mutations are transforming. The most potent mutations are activating, co‐operate with other ERBB receptors, and are sensitive to pan‐ERBB inhibitors. Activating ERBB4 mutations also promote therapy resistance in EGFR‐mutant lung cancer.
Veera K. Ojala, Sini Ahonen, Sara Peltola, Aura Tuohisto‐Kokko, Olaya Esparta, Peppi Suominen, Anne Jokilammi, Iman Farahani, Deepankar Chakroborty, Nikol Dibus, Steffen Boettcher, Tomi T. Airenne, Mark S. Johnson, Lisa D. Eli, Klaus Elenius, Kari J. Kurppa   +15 more
wiley   +1 more source

Multiplex Ligation-dependent Probe Amplification (MLPA) – new possibilities of prenatal diagnosis

Polish Gynaecology, 2013
Multiplex Ligation-dependent Probe Amplification (MLPA) is a relatively new method of molecular diagnosis. It enables a relative quantitative assessment of up to 50 different PCR amplicons in one reaction by the use of a very small amount of examined DNA.
Diana, Massalska, Julia, Bijok, Janusz G, Zimowski, Anna, Jóźwiak, Grzegorz, Jakiel, Tomasz, Roszkowski   +5 more
openaire   +2 more sources