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Protocol for identifying genetic modifiers of phenotypes in individuals with disease-associated variants. [PDF]

STAR Protoc
Smolen C, Jensen M, Girirajan S.
europepmc   +1 more source

Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation. [PDF]

Glob Med Genet
Zhang Y, Zhang X, Chen D.
europepmc   +1 more source

Insights into Copy Number Variation Architecture in Black Bengal Goat Genome. [PDF]

Int J Mol Sci
Nayak SS, Mittal S, Panigrahi M.
europepmc   +1 more source

Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations. [PDF]

Mol Cytogenet
Zhang L, Qian F, Chen W, Fan J, Zeng Y, Luo T, Che M, Yu B, Zhang T.   +8 more
europepmc   +1 more source

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An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example

Human Mutation, 2013
Copy number variation (CNV) has become well recognized in recent years. It has been estimated that common CNVs account for approximately 10% of the human genome and that they overlap hundreds of genes and other functional genetic elements. Although substantial progress in genome-wide CNV analysis has been made recently, there is still a need for a ...
Malgorzata Marcinkowska-Swojak, Marek Figlerowicz, Piotr Kozlowski   +2 more
exaly   +3 more sources

Rare events and the CNV — the oddball CNV

International Journal of Psychophysiology, 1992
Event-related brain potentials (ERPs), such as Nd and P300, change as a function of the proportion of time if a rare, significant, stimulus occurs. This 'oddball' paradigm has had a significant influence on the interpretation of ERPs in terms of the psychological and information-processing functions they reflect. Interpretations of transient components
Bauer, Herbert, Rebert, Charles, Korunka, Christian, Leodolter, Michael   +3 more
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CNV and time estimation

International Journal of Neuroscience, 1985
We investigated the hypothesis that the development and resolution of CNV waves may, in part at least, reflect time estimation processes in the nervous system. Specifically, we postulated that subjects with a high degree of accuracy in time estimation tasks will show a fast resolution of the negativity following the imperative stimulus (S2).
M, Ladanyi, B, Dubrovsky
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CNV rebound and aging

Electroencephalography and Clinical Neurophysiology, 1982
Abstract Thirty-five young (ages 18–32 years), 38 older (ages 55–69 years), and 23 elderly (ages 70–85 years) individuals were tested in two CNV paradigms: (1) a constant-foreperiod reaction time task consisting of a light flash-tone-key press sequence (control trials); (2) a divided-attention (50%-letters) task in which two types of trials occurred ...
J J, Tecce, L, Cattanach, D A, Yrchik, D, Meinbresse, C L, Dessonville   +4 more
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The Use of CNV in Audiometry

International Journal of Audiology, 1974
The contingent negative variation (CNV) has been used to design an objective test of the threshold of perception of a simple acoustic stimulus. A tone of adjustable intensity was delivered by an audiometer to predict a second stimulus (weak flash of light to follow after a short interval. A CNV was generated during this interval if the subject expected
T S, Prevec, J, Lokar, S, Cernelc
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