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The Effect of DYS-14 Copy Number Variations on Extracellular Fetal DNA Quantification in Maternal Circulation
The aims of our research involved to investigate DYS-14 copy number variations in healthy males, to quantify extracellular DNA in maternal circulation in normal versus complicated pregnancies, and to study variations
EB - Genetika a molekulární biologie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Copy-number variation of housekeeping gene rpl13a in rat strains selected for nervous system excitability
We evaluated copy number variation (CNV) for four genes in rat strains differing in nervous system excitability. rpl13a copy number is significantly reduced in hippocampus and bone marrow in rats with a hi...
Cell biology
- 2017 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Increase in GSK3beta gene copy number variation in bipolar disorder
The analysis of submicroscopic copy number variations (CNVs), also known as copy number polymorphisms (CNPs), is emerging as a new tool for understanding the genetic basis of cancer, developmental disorder...
FL - Psychiatrie, sexuologie
- 2007 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid
The work is concerned with results of determination of SMN2 gene copy-number; correlation of SMN2 copy-number/clinical stage; corelation of SMN2 copy number/ full-length SMN2 mRNA level; and monit...
EB - Genetika a molekulární biologie
- 2006 •
- D
Rok uplatnění
D - Stať ve sborníku
Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?
OBJECTIVES: The term "copy number variation/variant" (CNV) denotes a DNA sequence with a magnitude of 1 kb at least which is differently represented among individuals based on its deletion or duplication. Since 2008, multip...
FL - Psychiatrie, sexuologie
- 2012 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Distribution and functional impact of DNA copy number variation in the rat
variation in relation to human complex traits and disease...
EB - Genetika a molekulární biologie
- 2008 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
The Variability of the 16S rRNA Gene in Bacterial Genomes and Its Consequences for Bacterial Community Analyses
, limited by the presence of variable copy numbers in bacterial genomes and sequence and copy numbers at various taxonomic levels and apply it to estimate bacterial genome containing low 16S rRNA copy ...
EE - Mikrobiologie, virologie
- 2013 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Prenatal detection of fetal chromosomal aberrations on a whole genome level by microarrays method for the purpose of Copy Number Variation (CNV) analysis
For prenatal detection of human chromosomal aberrations we use microarray based method based on published data. CytoScan Optima Suite (Affymetrix, ThermoScientific) offers broad coverage with 1Mb deletion sensitivity, 2Mb duplication and 5Mv LOH / AO...
Technologies involving identifying the functioning of DNA, proteins and enzymes and how they influence the onset of disease and maintenance of well-being (gene-based diagnostics and therapeutic interventions [pharmacogenomics, gene-based therapeutics])
- 2018 •
- NmetA •
- Link
Rok uplatnění
NmetA - Akreditované metodiky a postupy
Výsledek na webu
Horizontally Acquired nrDNAs Persist in Low Amounts in Host Hordeum Genomes and Evolve Independently of Native nrDNA
copy number variation (CNV) of nrDNA in the diploid representatives of the genus Hordeum. We estimated the copy number of the foreign, as well as of the native ITS, we encountered an almost 19-fold va...
Plant sciences, botany
- 2021 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods
on association of gene copy number with disease, including CCL3L1 and HIV susceptibility, and beta-defensins and Crohn's disease. Quantification of precise gene copy numbers is important in order to define any ass...
EB - Genetika a molekulární biologie
- 2011 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
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