Relevant bibliographies by topics / CNV

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'CNV'

Author: Grafiati
Published: 4 June 2021
Last updated: 7 July 2024

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Journal articles on the topic "CNV"

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Nurani, Ni Nyoman. "PENGARUH KOMPOSISI BAHAN BAKU MASSA COR CN (CN2, CN3, CN6, CN7, CN8) TERHADAP TEKNOLOGI PROSES DAN VARIABEL KEUANGAN PADA UPT PSTKP BALI-BPPT." Forum Manajemen 14, no. 1 (July 1, 2017): 39–57. http://dx.doi.org/10.61938/fm.v14i1.124.

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Abstracts: The aims of this are to know the influence of CN casting massa raw materialcomposition to technology process, cost of goods manufactured calculation, transferprice determination, inventory valuation, operating expense and operating profitrecognition. The research results shew that: (1) the production process technologyCN casting massa follow by: weighting, grussing, mixing, filtring, and carrying.On the weighting process, the greater amount of composition and/or kinds of rawmaterial, the more complex and longer of weighting process. The raw materialcomposition influenced process technology CN casting massa superior on weightingprocess; (2) the cost of good manufactured CN casting massa was Rp 2.896,83 forCN2, Rp 3.031,83 for CN3, Rp 3.017,00 for CN6, Rp 3.004,52 for CN7, and Rp2.996,50 for CN8. (3) the transfer price CN casting massa composition was Rp3.302,39 for CN2, Rp 3.456,28 for CN3, Rp 3.473,58 for CN6, Rp 3.425,15 for CN7,and Rp 3.416,01 for CN8. (4) the ending inventory CN casting massa compositionwas Rp 434.524,50 for CN2, Rp 454.774,50 for CN3, Rp 457.050,00 for CN6, Rp450.678,00 for CN7, and Rp 449.475,00 for CN8. (5) the marketing expense CNcasting massa was Rp 173,81 for CN2, Rp 181,91 for CN3, Rp 182,82 for CN6, Rp180,27 for CN7, and Rp 179,79 for CN8. (6) The operating profit CN casting massa was Rp 115,87 for CN2, Rp 121,27 for CN3, Rp 121,88 for CN6, Rp 120,18 for CN7,and Rp 119,86 for CN8.
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IRAWATI, WAHYU, NOMMENSEN PANGIHUTAN OMPUSUNGGU, DWI NINGSIH SUSILOWATI, and TRIWIBOWO YUWONO. "Molecular and physiological characterization of indigenous copper-resistant bacteria from Cikapundung River, West Java, Indonesia." Biodiversitas Journal of Biological Diversity 20, no. 2 (January 21, 2019): 344–49. http://dx.doi.org/10.13057/biodiv/d200206.

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Irawati W, Ompusunggu NP, Susilowati DN, Yuwono T. 2019. Molecular and physiological characterization of indigenous copper-resistant bacteria from Cikapundung River, West Java, Indonesia. Biodiversitas 20: 344-349. The use of indigenous bacteria as bioremediation agents in wastewater treatments plant is a promising solution for tackling the environmental problem. The objectives of this research were to establish the phylogenetic tree and physiological characterization of copper-resistant bacteria isolated from Cikapundung River, West Java, Indonesia. A phylogenetic tree was constructed based on 16S rDNA sequences. Physiological characterization including growth and the potency of bacterial strain for copper accumulation and copper removal was also studied. Five highly copper-resistant bacteria designated as strains CN1, CN2, CN5, CN6, and CN8 have been isolated from Cikapundung river with the MICs (Minimum Inhibitory Concentration) of 5 mM-8mM. Sequence alignment and phylogenetic analysis showed that strains CN1 and CN6 belong to Klebsiella pneumoniae with the similarity of 99%. Meanwhile, strain CN2, CN5, and CN8 belong to Acinetobacter calcoaceticus, Acinetobacter sp. and Escherichia coli with the similarity of 99%, 96%, and 95%, respectively. The highest resistant bacterial isolates were strains CN6 and CN8 with the MICs of 8 mM. The highest accumulation capability was found in strain CN1 with a total of 4.62 mg/g dry weight of cells. Meanwhile, strain CN8 demonstrated the highest copper removal with the value of 48.15%.
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Voykov, B., and F. Ziemssen. "Myope CNV." Klinische Monatsblätter für Augenheilkunde 228, no. 09 (September 2011): 762–70. http://dx.doi.org/10.1055/s-0031-1281583.

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Vandeweyer, Geert, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, and R. Frank Kooy. "CNV-WebStore: Online CNV Analysis, Storage and Interpretation." BMC Bioinformatics 12, no. 1 (2011): 4. http://dx.doi.org/10.1186/1471-2105-12-4.

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Bauer, Herbert, Charles Rebert, Christian Korunka, and Michael Leodolter. "Rare events and the CNV — the oddball CNV." International Journal of Psychophysiology 13, no. 1 (July 1992): 51–58. http://dx.doi.org/10.1016/0167-8760(92)90020-c.

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Chen, Wei, Yubo Guan, Guanghui He, Zhiwei Li, Hui Song, Shiyong Xie, and Quanhong Han. "Aqueous Levels of Pigment Epithelium-Derived Factor and Macular Choroidal Thickness in High Myopia." Journal of Ophthalmology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/731461.

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Purpose. To investigate the correlation between aqueous and serum levels of pigment epithelium-derived factor (PEDF) and macular choroidal thickness in high myopia patients, both with and without choroidal neovascularization (CNV).Methods. Serum and aqueous levels of PEDF were measured by enzyme-linked immunosorbent assay in 36 high myopia patients (36 eyes) with no CNV (non-CNV group), 14 high myopia patients (14 eyes) with CNV (CNV group), and 42 nonmyopia patients (42 eyes) (control group). Macular choroidal thickness was measured by enhanced-depth imaging optical coherence tomography.Results. Aqueous levels of PEDF were significantly higher in CNV group compared with non-CNV (P<0.001) and control (P<0.001) groups. Macular choroidal thicknesses were significantly decreased in the non-CNV and CNV groups compared with the control (P<0.001) group. A statistically significant difference (P=0.012) was found between the CNV and non-CNV groups. There was a positive correlation between aqueous PEDF and macular choroidal thickness in the non-CNV group (P=0.005), but no correlation with the CNV group. No correlation between serum PEDF and macular choroidal thickness was detected in the three groups.Conclusion. Variations in aqueous PEDF levels coincide with changes in macular choroidal thickness in high myopia patients with no CNV, while no such relationship exists in high myopia patients with CNV.
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Lee, Dong Hyun, Hyun Goo Kang, Sung Chul Lee, and Min Kim. "Features of optical coherence tomography predictive of choroidal neovascularisation treatment response in pathological myopia in association with fluorescein angiography." British Journal of Ophthalmology 102, no. 2 (June 9, 2017): 238–42. http://dx.doi.org/10.1136/bjophthalmol-2017-310244.

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Background/AimsThe aim of this study was to evaluate the usefulness of several optical coherence tomography (OCT) findings to estimate choroidal neovascularisation (CNV) activity in pathological myopia using fluorescein angiography (FA) as a reference.MethodsThis was a single-centre, retrospective study. The medical records of patients with active myopic CNV who received intravitreal bevacizumab treatment were reviewed. Parameters to monitor CNV activity were morphological features of CNV on OCT, such as CNV height, central foveal thickness, intraretinal cysts, subretinal fluid, fuzziness of the CNV border, CNV network area on FA, and haemorrhage or exudation on fundus photo.ResultsThere were 46 patients with active CNV enrolled in this study. After intravitreal bevacizumab treatment, all the previously mentioned parameters of CNV were significantly improved. Using logistic regression analyses with backward elimination, the fuzzy border seen on OCT showed the most significant correlation with improvement of leakage on FA, when compared with other variables such as intraretinal cysts, subretinal fluid or central foveal thickness (R2=0.324, p=0.009).ConclusionOur study showed that the fuzziness of the hyper-reflective CNV margin showed the most significant improvement and the strongest correlation with the improvement of CNV leakage on FA after intravitreal bevacizumab injections, suggesting its important role as an OCT parameter for the assessment of myopic CNV activity.
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Forte, Raimondo, Florence Coscas, Rita Serra, Diogo Cabral, Donato Colantuono, and Eric H. Souied. "Long-term follow-up of quiescent choroidal neovascularisation associated with age-related macular degeneration or pachychoroid disease." British Journal of Ophthalmology 104, no. 8 (October 29, 2019): 1057–63. http://dx.doi.org/10.1136/bjophthalmol-2019-315189.

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AimsTo evaluate the long-term progression of quiescent type 1 choroidal neovascularisation (CNV) associated with age-related macular degeneration (AMD) or with pachychoroid disease.MethodsAll cases of quiescent type 1 CNV with a minimum follow-up of 12 months seen at the Department of Ophthalmology of University Paris Est, Creteil and at the Centre Ophtalmologique de l’Odeon, Paris, between June 2009 and December 2018 were retrospectively reviewed. Optical coherence tomography angiography (OCT-A) of eyes not showing CNV activation during 24 months was evaluated for quantitative analyses of CNV status biomarkers (fractal dimension, lacunarity, vessel density, aspect ratio, CNV area).ResultsA total of 67 eyes (65 patients, 43 females, mean age 76.63±9.7 years) with quiescent CNV and a mean follow-up of 49.56±27.3 (12–112) months were included. Of 28 eyes showing activation of quiescent CNV, 12 eyes with pachychoroid-associated CNV showed reduced visual loss (−3.28 ETDRS letters, p=0.7 vs −13.03 ETDRS letters, p=0.02), greater choroidal thinning (−59.5 µm, p=0.03 vs – 16.36 µm, p=0.3) and needed less antivascular endothelial growth factor intravitreal injections (IVI) (0.09 vs 0.21, p=0.01) than 16 eyes with AMD-associated CNV. CNV area was the only OCT-A biomarker to significantly change during 24 months in inactive quiescent CNV (+29.5%, p=0.01, in pachychoroid group and +27.1%, p=0.03, in the AMD group).ConclusionIn the long-term follow-up, inactive quiescent CNV showed an increase of CNV area without significant changes of the other OCT-A biomarkers. Quiescent type 1 CNV undergoing activation showed greater response to IVI when associated to pachychoroid.
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Rush, Ryan B., and Sloan W. Rush. "Evaluation of Idiopathic Choroidal Neovascularization with Indocyanine Green Angiography in Patients Undergoing Bevacizumab Therapy." Journal of Ophthalmology 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/642624.

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Purpose. To examine the clinical implications of change in choroidal neovascularization (CNV) size on indocyanine green (ICG) angiography in subjects with idiopathic CNV undergoing bevacizumab therapy.Methods. The charts of subjects with an idiopathic CNV treated by a modified PRN regimen with intravitreal bevacizumab over a 12-month period were retrospectively reviewed.Results. There were 34 subjects included in the analysis. Baseline CNV sizes of less than 1.0 mm2on ICG angiography correlated with complete CNV resolution (P=0.0404), fewer injections delivered (P=0.0002), and better Snellen visual acuity (P=0.0098) at 12 months. Subjects that experienced a 33% or more reduction in CNV size on ICG angiography at 2 months had complete CNV resolution (P=0.0047) and fewer injections (P<0.0001) at 12 months compared to subjects that did not experience a 33% or more reduction in CNV size on ICG angiography at 2 months.Conclusions. Smaller baseline CNV size on ICG angiography resulted in better visual acuity and fewer injections at 12 months, and a reduction of 33% or more in CNV size after 2 months may predict a better clinical course in subjects with idiopathic CNV undergoing bevacizumab therapy.
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Gong, Jingwen, Suqin Yu, Yuanyuan Gong, Fenghua Wang, and Xiaodong Sun. "The Diagnostic Accuracy of Optical Coherence Tomography Angiography for Neovascular Age-Related Macular Degeneration: A Comparison with Fundus Fluorescein Angiography." Journal of Ophthalmology 2016 (2016): 1–8. http://dx.doi.org/10.1155/2016/7521478.

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Purpose.To describe the morphological characteristics and efficacy of OCTA in detecting CNV in nAMD. We retrospectively reviewed 53 patients (86 eyes) with suspected CNV secondary to wet AMD. All the patients underwent a multimodal assessment for CNV. Two independent readers calculated the sensitivity and specificity of OCTA in detecting CNV compared with FA. A qualitative analysis of OCTA was also performed to describe the morphological appearance of CNV. Among 86 eyes of 53 patients, 52 eyes were diagnosed as having CNV based on the FA imaging analysis. According to FA, CNV was classified as classic in 28 eyes, predominantly classic in 6 eyes, minimally classic in 9 eyes, and occult in 9 eyes. In 56 eyes, CNV was visualized on OCTA and corresponding OCT B-scans. In total, 46.4% (26/56) had well-circumscribed vessels, and 53.6% (30/56) showed poorly circumscribed vessels. There were 11 false positives and 7 false negatives using OCTA. The specificity of OCTA for the detection of CNV was 67.6%, with sensitivity of 86.5%. OCTA may help in the noninvasive diagnosis of CNV and may provide a method for monitoring the evolution of CNV.
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Dissertations / Theses on the topic "CNV"

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Lacinová, Michaela. "Detekce CNV v bakteriálních genomech." Master's thesis, Vysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií, 2019. http://www.nusl.cz/ntk/nusl-400996.

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This master thesis deals with analysis of structural variation of genome and with methods of its sequencing across all generations. Subsequently it contains a description of copy number variation and methods of its detection. The experimental part focuses on algorithm proposal for CNV detection according analysis and testing of uneven coverage in genome, variable representation of GC content and distance of sequence reads. Finally, the algorithm for detecting copy number variation is tested on genomic data of bacteria Klebsiella pneumoniae.
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Pleskačová, Barbora. "Detekce CNV v sekvenačních datech." Master's thesis, Vysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií, 2020. http://www.nusl.cz/ntk/nusl-413021.

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Copy number variation detection in prokaryotic organisms is currently receiving more and more attention, mainly due to the association of CNV with pathogenicity and antibiotic resistance in bacteria. The algorithm designed in this thesis uses peak detection in sequencing coverage to detect CNV segments. Read coverage is commonly obtained by mapping sequencing reads of one individual to an already known reference of another individual of the same species. However, two individuals will always differ in a certain number of genes, resulting in unmapped reads that are unnecessarily discarded. Therefore, this work assumes that the biological accuracy of CNV detection can be increased by using a new reference that is created from the same set of reads as the reads mapped to this reference. Sequencing reads of Klebsiella pneumoniae individuals are used to verify this assertion.
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Xu, Xiao. "Human alpha defensin CNV haplotype diversity." Thesis, University of Nottingham, 2018. http://eprints.nottingham.ac.uk/51262/.

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Humans have highly variable number of alpha defensin genes, with between 3-16 diploid copies. Alpha-defensin genes have important roles in human innate immunity and diseases. Recently, GWAS studies reported this locus associated with IgA nephropathy and periodontitis. However, the underlying mechanism of association is not clear. In this Ph.D. thesis, human alpha defensin CNV flanking haplotype diversity in global populations was studied and the association between diseases and haplotype classes was discussed. Then a novo method to detect variants from inside the DEFA1A3 CNV was developed and a list of potential disease-related mutations for further functional studies was generated. The association between CNV internal variants and flanking haplotype classes was studied. Non-allelic homologous recombination was found to be the major mechanism of CNV formation of alpha defensin CNV. Analysis results were verified by PCR and Sanger sequencing-based methods. Additional to that, the haplotype diversity analysis highlighted an unusual haplotype 5T/7C which is only found in European populations but highly diverged from other human haplotypes. Further evidence was provided to suggest that this is an introgressed haplotype from Neanderthals. Furthermore, we used Oxford Nanopore to reconstruct haplotype structure in DEFA1A3 CNV and discussed its advantages and limitations by our analysis results. In brief, this Ph.D. research greatly improved our understanding of DEFA1A3 global diversity, evolutionary history, diseases and haplotype association.
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Turbany, Oset Jaume. "Detección y análisis del componente endógeno CNV." Doctoral thesis, Universitat de Barcelona, 1992. http://hdl.handle.net/10803/2374.

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El experimento clásico evocador de la onda CNV consiste en la presentación consecutiva de dos estímulos. El primero advierte al sujeto de la aparición de un segundo estímulo, tras el que deberá realizar algún tipo de acción, generalmente motora (Walter et als., 1964). La onda eléctrica registrada en el intervalo de estos dos estímulos, mediante la utilización de electrodos situados en la superficie del cuero cabelludo, es la que se identifica como macrocomponente CNV.

Todos los registros de fenómenos bioeléctricos realizados en el ser humano se enfrentan con un problema fundamental: la presencia de ruido acompañando a la señal eléctrica que se desea registrar. En el caso de los potenciales relacionados con el evento este problema resulta ser extremadamente complicado, debido a que la razón señal/ruido (SNR), o sea el cociente de las variabilidades presentadas por ambas, suele ser extremadamente bajo.

Tradicionalmente el aumento de la SNR se ha solventado registrando gran cantidad de ensayos individuales, y promediando los valores obtenidos en cada punto "t" de la serie temporal. Este procedimiento, comúnmente utilizado en la mayoría de laboratorios, presenta graves inconvenientes de aplicación por lo que respecta al complejo CNV. En primer lugar cabe destacar la importante contaminación que sufre este multicomponente como resultado de los movimientos oculares producidos por el sujeto (Hillyard y Galambos, 1970). Esto hace que, si el rechazo de los ensayos contaminados por artefactos se produce simultáneamente a la obtención del registro, pueda dilatarse excesivamente la sesión experimental, con objeto de conseguir un número de ensayos suficientes en base a los que poder obtener la estimación de la señal. La producción de un número excesivo de ensayos comporta, a su vez, fatiga en el sujeto, resultando de esta forma bastante difícil el registro de la señal en población psicopatológica o en niños y ancianos. Por otra parte, si la selección de ensayos libres de movimientos oculares u otros artefactos se realiza con posterioridad a la finalización de la sesión de registro, es posible que el número de ensayos finalmente seleccionados sea tan reducido que impida la correcta estimación de la señal mediante el promediado simple, puesto que no serán suficientes para magnificar de forma conveniente la SNR.

Siguiendo la sugerencia realizada por Tukey (1978), se propone en esta tesis la utilización, conjuntamente con el promediado, de alguna técnica de suavizado (Tukey, 1977; Velleman y Hoaglin, 1981). La aplicación de estas técnicas produce un cambio en la perspectiva de la estimación de la señal, sustituyendo el promediado transversal clásico que utiliza el promediado simple por otro longitudinal.

Las técnicas de suavizado utilizadas son las contempladas por el Análisis Exploratorio de Datos (EDA) y comparten, por tanto, sus propiedades y ventajas, que pueden resumirse en:

- sencillez de formalización
- utilización de índices resistentes y robustos
- análisis gráfico
- análisis de los residuales

La técnica se plantea conseguir una descripción simple de variable "v" (diferencia de potencial) en función del tiempo, descomponiéndose cada valor (Dato = Parte Suavizada + Parte Rugosa). La parte suavizada no pretende ser una descripción mediante una fórmula sino simplemente una curva alisada que recoja, a gran escala, la estructura de la secuencia de datos, y por consiguiente la parte rugosa sea un proceso aleatorio.

Este tipo de alisado aplicado a una secuencia de datos EEG actúa como un filtro de pasa-bajos, por lo tanto elimina los componentes que presentan frecuencias altas, siendo a nuestro entender este hecho lo que los hace especialmente adecuados para el análisis de componentes lentos como la CNV. Ciertamente este proceso dependerá básicamente de dos parámetros, la amplitud de ventana empleada y la ponderación de los elementos que la componen.

La utilización de las técnicas de suavizado, al actuar sobre las respuestas eléctricas de alta frecuencia, permite eliminar aquellos ensayos contaminados que no hayan sido mitigados mediante el uso del filtrado analógico, o cualquier otro método de rechazo de artefactos.

La aplicación de los alisadores se realizará de forma exploratoria, o sea, observando la actuación de diferentes tipos de éstos sobre la serie registrada. Esto no puede ser de otra forma debido a que no es conocida la función de transferencia que permitiría el cambio del análisis en el dominio del tiempo al dominio de la frecuencia, siendo ésta, en la actualidad, su principal limitación.

Se ha realizado una aplicación de las técnicas de suavizado a unos datos obtenidos en experimentos CNV y RP (Potencial de Preparación). Tanto en los experimentos CNV como los RP la aplicación combinada de alisadores y el promediado simple proporciona una estimación de la señal a partir de un reducido número de ensayos individuales, evitando de esta forma la aparición de los procesos de fatiga y habituación. Esta es una de las grandes ventajas en comparación con el promediado simple, que requiere un mayor número de ensayos para obtener una estimación similar.

Esta mejora en la estimación redundará en la de los posibles análisis realizados utilizando este componente corno variable dependiente, en estudios de relación con otras variables experimentales con las que puede encontrarse relacionado.

La utilización de alisadores demasiado fuertes, corno por ejemplo la regresión Lowess, afecta a componentes corno el P300 y el RP deformando excesivamente su estimación.

En el apéndice se realiza un estudio de simulación en el que parece confirmarse la mejora que supone la realización de un proceso de suavizado de forma complementaria al del promediado. En un primer estadio se constató que en caso de que las SNR se aproxime a la unidad, el suavizado consigue una correcta estimación utilizando únicamente un sólo ensayo, incluso con los alisadores considerados más blandos. Ciertamente, en el caso de los registros ERP no es frecuente encontrar SNR's tan elevadas, ni siquiera en el caso de la CNV, que quizás sea uno de los componentes en el cual ésta es de las más altas. Por este motivo se trabajó con una SNR más próxima a la que suele ser habitual en este tipo de macrocomponente. En esta situación se constató que, si bien la estimación en base al ensayo individual resultó muy deformada, sí que es posible la correcta detección de la señal en base a un menor número de ensayos, tanto si se suaviza el promedio de éstos, como si se calcula el promedio de los mismos ensayos previamente suavizados.
The classic CNV evoking experiment consists on the consecutive presentation of two stimuli. First advises the subject the forthcoming second stimulus, after which some kind of action has to be done, often motor (Walter et als., 1964). The registered electric wave in the interval between these two stimuli, by using scalp electrodes, is named as CNV macrocomponent.

Every bioelectric phenomena registered on the human being are confronted to a main problem: the presence of noise going along with the electric signal intended to register. Signal extraction from noise has been traditionally solved by registering a great number of individual trials and averaging the values obtained on each "t" point of the time series. This proceeding, commonly used on most laboratories, presents serious application problems on the CNV complex. Following Tukey's suggestions (1978), it is proposed on the thesis the use, along with averaging, of some smoothing technique (Tukey, 1977; Velleman & Hoaglin, 1981). These techniques application yields to a perspective change on the signal estimation, by substituting classic transversal averaging that uses simple averaging, by a longitudinal one.

In the thesis it has been done an application of smoothing techniques to a data obtained on CNV and RP (Readiness Potential) experiments. On both, combined application of smoothing and simple averaging offers an signal estimation from a reduced number of individual trials, avoiding in such a way the fatigue and habituation processes. Is this one of the major advantages comparing to the simple averaging that needs a great number of trials to obtain a similar estimation.
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Berglin, Lennart. "Choroidal neovascularization (CNV) : clinical and experimental aspects /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-284-1/.

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Waisman, Rogeria. "Paraphilias in males : visual and auditory CNV studies." Thesis, King's College London (University of London), 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419803.

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ATHANASAKIS, EMMANOUIL. "Valutazione del background genetico di una coorte di individui dislessici mediante l'utilizzo di tecnologie ad alta processività." Doctoral thesis, Università degli Studi di Trieste, 2018. http://hdl.handle.net/11368/2922687.

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Il progresso tecnologico e la riduzione dei costi ha significativamente contribuito all'identificazioni delle cause genetiche di diverse malattie genetiche multifattoriali. In questo lavoro di dottorato riporto i risultati di un analisi genetica di una coorte di ragazzi dislessici utilizzando delle tecnologie ad alta processività come Next Generation Sequencing e SNP-array ad alta densità. La coorte in studio consiste di 49 soggetti con dislessia e 52 soggetti con dislessia e altre Disabilità Specifiche di Apprendimento (disortografia, disgrafia, discalculia). Tutti i campioni sono stati sequenziati utilizzando la piattaforma Ion Torrent, focalizzandosi sulle regioni codificanti e sulle giunzioni esone-introne, in 12 geni candidati (CMIP, CNTNAP2, CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2, KIAA0319, KIAA0319L, MRPL19, ROBO1, S100B), focalizzandosi sulle varianti non descritte in letteratura e in quelle rare (MAF <1%). Un sotto-gruppo di 54 soggetti è stato ulteriormente analizzato, genotipizzando più di 1,7 M marcatori (Multi Ethnic Global Array design, Ilumina), per l'identificazione e caratterizzazione in base alla letterature di Copy Number Variation (CNV). Per questo proposito, per la chiamata di CNV ad "alta fedeltà", sono stati usati due algoritmi: cnvPartition e PennCNV. In totale riportiamo 12 varianti predette patogenetiche, tra le qualli due nuove con effetto deleterio (DIP2A:p.G1387* and KIAA0319:p.V774Afs*37) e una rara variante di splicing (GCFC2:c.266-2A>G). Inoltre, diverse CNV sono state identificate che sovrappongono dei geni associati a problemi con il linguaggio, ma nessuna delle CNV con i geni riportati sopra. Infine, una copia di fratelli sono portatori di diverse duplicazioni localizzate nella regione 16p13.11, una regione di suscettibilità ai disordini di neurosviluppo. Il presente lavoro arrichisse la nostra conoscenza sul background genetico della coorte in studio. Nello stesso momento i risultati ottenuti devono essere ulteriormente analizzati per poter attribuire un ruolo a quanto possibile certo sul loro contributo all'insorgenza della dislessia.
Technological improvements and continued cost reduction have significantly contributed to the progress of identifying the genetic causes of complex traits. Here we report the results of a genetic screening on a dyslexia cohort combining targeted next generation sequencing and high density SNP array. The study cohort consists of 49 subjects with dyslexia and 52 subjects with dyslexia and other specific learning disabilities (dysorthographia, dysgraphia, dyscalculia). All samples were sequenced on Ion Torrent platform, targeting the coding regions and their exone-intron boundaries of 12 candidate dyslexia genes (CMIP, CNTNAP2, CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2, KIAA0319, KIAA0319L, MRPL19, ROBO1, S100B), with focus on novel and rare variants. A subset of 54 samples was further analyzed, genotyping over 1.7 M markers (Multi Ethnic Global Array design, Ilumina), for copy number variation (CNV) discovery and characterization according to the literature. For this purpose, high confidence CNVs were obtained using the cnvPartition and the PennCNV calling algorithms. We report a total of 12 pathogenic predicted variants, among which two novel deleterious events (DIP2A:p.G1387* and KIAA0319:p.V774Afs*37) and a known rare splicing variant (GCFC2:c.266-2A>G). Moreover, several copy number variants were identified, overlapping some language related genes, but not any of the above sequenced genes. Finally, a sibling pair was found to harbor duplications in the chromosome band 16p13.11, a susceptibility region for several neurodevelopmental disorders. The present study enriches our knowledge about the genetic background in a dyslexia cohort. At the same time our findings emphasize the need for further research to attribute causative roles of these events for cohort phenotypes.
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Santos, Alexsandro dos. "SNP arrays na detecção de alterações estruturais e no número de cópias em pacientes portadores de deficiência intelectual idiopática." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-12072017-082102/.

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Deficiência intelectual é uma condição heterogênea e complexa, diagnosticada em 1-3% da população mundial. Desequilíbrios cromossômicos e variações no número de cópias (CNVs) são as causas mais frequentes de DI e, até recentemente, a maior parte desse desequilíbrio era averiguado por análises citogenéticas convencionais. Antes da utilização de microarrays cromossômicos (CMA), a causa etiológica da DI ainda permanecia desconhecida em ~60% dos pacientes. A aplicação de CMA tem revolucionado o diagnóstico da DI e de muitas outras doenças congênitas, permitindo explicar a etiologia molecular de parte da DI através da identificação de CNVs patogênicas. Nos países desenvolvidos, CMA é considerado como primeiro teste para avaliar pacientes com múltiplas anomalias congênitas, DI e/ou autismo. Contudo, nos países em desenvolvimento, a detecção de alterações ainda é feita principalmente por métodos citogenéticos convencionais. O objetivo desse estudo foi identificar, através do uso de SNP arrays, o espectro de anomalias cromossômicas presente em uma amostra de 40 pacientes com DI idiopática moderada e grave, apresentando ou não aspectos dismórficos e anomalias congênitas. Em especial, essa coorte de pacientes, em sua maioria (~2/3), não havia sido previamente cariotipada. Embora mundialmente desde 2010 a recomendação seja de realizar arrays antes de cariótipo, a maioria dos pacientes relatados em estudos já havia sido cariotipada antes de array ser oferecido a eles como teste. Foram identificadas alterações raras em 18 pacientes (45%). Em 12 (30%) desses Pacientes, as CNVs eram sabidamente patogênicas; esta taxa diagnóstica está muito acima da taxa de detecção reportada na literatura (~20%) e possíveis causas desta discrepância são discutidas. Outros 6 Pacientes (15%) apresentaram variantes raras de significado incerto (variants of unknown significance - VUS). Um aspecto adicional investigado foram os mecanismos envolvidos na formação de alguns dos rearranjos estruturais; enquanto nosso foco inicial era o uso de arrays para detecção de CNVs, se tornou evidente no decorrer do projeto que o padrão dos SNPs obtido nos arrays revelava, a partir do DNA, informação valiosa sobre a estrutura dos cromossomos e a composição heterogênea de células em uma amostra (mosaicismo). Esses resultados são discutidos em detalhes em duas situações: (1) A descrição de uma deleção terminal 1p36, associada a dissomia uniparental (UPD) em mosaico de segmentos de 1pter de diferentes tamanhos. Sugerimos que essa composição reflita eventos recorrentes de captura de telômero, embora processo similar nunca tenha sido descrito, e propomos um possível mecanismo responsável por originar esse desequilíbrio complexo. (2) Três dos nossos pacientes apresentam 4 cópias ou uma combinação de 3-4 cópias de segmentos proximais, na maior parte superpostos, de 15q11q13. Possíveis mecanismos de origem desses rearranjos são discutidos
Intellectual disability (ID) is a complex and heterogeneous condition affecting about 1-3% of the general population. Chromosomal imbalances and copy-number variations (CNVs) have been recognized as the most frequent causes of ID and, until recently, most of these imbalances were diagnosed by cytogenetic analysis. Before the application of microarray analysis (CMA), the underlying cause of ID remains unknown in ~60% of patients. The use of CMA has revolutionized the diagnosis of ID and several other congenital disorders, and have made it possible to identify pathogenic CNVs that could explain the molecular etiology of ID. In developed countries, CMA is considered the first-tier technique for the analysis of patients with multiple congenital anomalies, ID, and/or autism spectrum disorders. However, in developing nations, detection of alterations is still performed mainly by conventional cytogenetic techniques. The aim of this study was identifying, using a high-density resolution SNP microarray, chromosomal imbalances in a total of 40 patients presented with moderate-to-severe ID, associated or not with dysmorphic features and congenital anomalies. Particularly, most of the patients in the cohort (~2/3) was not karyotyped previously. Although CMA has been recommended as the first-tier test since 2010 all over the world, the majority of the patients in the reported studies were karyotyped before CMA was offered as a diagnostic test. Rare CNVs were detected in 18 patients (45%). Among those patients, 12 (30%) carried pathogenic CNVs. This yield is much higher than reported in the literature (~20%), and possible causes for this discrepancy are discussed. Six patients (15%) carried variant of unknown significance (VUS). Furthermore, mechanisms involved in structural rearrangements found in some patients were investigated. Even though the main focus of this dissertation was the detection of CNVs using high resolution SNP arrays, throughout the course of this project it was clear that the SNP patterns found could reveal crucial information about the structure of chromosomes and the heterogeneous composition of cells (mosaicism). Those results are discussed in detail in two situations: (1) One description of a terminal 1p36 deletion, associated with mosaic uniparental disomy (UPD) of different sized 1pter segments. We hypothesized that this composition reflects recurrent telomere capture events, although a similar process has never been described so far, and proposed a possible mechanism responsible for originating this complex imbalance. (2) Three of our patients carried four copies or a four-three copies-combination of a proximal, partially overlapping, 15q11q13 segment. Possible mechanisms responsible for this complex rearrangement are discussed
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9

Connolly, Kate. "The role of genomic Copy Number Variation (CNV) in osteoporosis." Thesis, Connolly, Kate (2012) The role of genomic Copy Number Variation (CNV) in osteoporosis. Honours thesis, Murdoch University, 2012. https://researchrepository.murdoch.edu.au/id/eprint/12018/.

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Copy number variation (CNV) is a relatively novel source of genetic variation, involving the duplication or deletion of segments of genomic DNA (gDNA) sequence, thereby changing the original number of DNA copies. It is currently gaining widespread recognition from the scientific community, and it is anticipated to play a major role in the aetiology of human diseases. However, the extent of its contribution to phenotypic diversity, in terms of individual susceptibility to disease, remains to be elucidated. Nonetheless, recent studies have indicated that common complex disease phenotypes, such as osteoporosis, might be highly susceptible to CNV. Osteoporosis is a common and debilitating skeletal condition, imposing significant clinical and socioeconomic consequences. The disease is characterised by fragile bones that are susceptible to fracture due to deregulated bone remodelling, where bone loss exceeds bone formation. Being a common complex disease, osteoporosis risk is largely determined by the effect of environmental factors on genetic variants. Moreover, identification of the genetic variants associated with osteoporosis is widely anticipated for the contribution it will make towards the development of improved measures of disease intervention. Recent genome-wide association studies (GWASs) have identified that the genes oestrogen receptor 1 (ESR1) and Axin 1 (AXIN1) potentially play major roles in bone regulation. In addition, evidence highlights their involvement in key biological processes that regulate bone turnover. Specifically, ESR1 mediates the response of bone marrow-derived cells to oestrogen and it has been demonstrated that oestrogen inhibits bone loss, while AXIN1 inhibits Wnt signal transduction and it has been demonstrated that Wnt proteins promote bone growth. Furthermore, several large-scale analysis projects firmly implicate genetic variations of both genes with bone marrow density (BMD), which is the surrogate phenotype of osteoporosis. Therefore, ESR1 and AXIN1 are both recognised candidates for the genetic regulation of osteoporosis risk. This study investigated the potential effect of two novel CNVs of the genes ESR1 and AXIN1, Variant_4512 and Variant_4912, respectively, in relation to BMD in a population cohort study of Caucasian women, between the ages of 18 and 83, from Australia and the UK. Subjects were genotyped for both CNVs, respectively, using real-time quantitative PCR (qPCR) combined with TaqMan chemistry, and the copy number (CN) quantitation software, CopyCaller. Subjects were then examined for evidence of association between both CNVs and three different BMD phenotypes, 1) raw measurement (g/cm2), 2) age-adjusted Z-score, and 3) controlled for several covariates, at three common skeletal locations of osteoporotic fracture, 1) lumbar spine, 2) total hip, and 3) femoral neck. This study confirmed the presence of ESR1 CNV and AXIN1 CNV in the analysed subject cohort, as indicated by the observation of three distinct CNV genotypes for each, representing CN loss (CN1) and CN gain (CN3) from the expected wild-type CN in the human diploid genome (CN2). This study found no evidence of association between both CNVs and BMD (p = > 0.05) in the analysed subject cohort. Therefore, the hypothesis tested in this study, that CNV is associated with BMD, was not supported. As a result, it would appear that the ESR1 CNV Variant_4512 and the AXIN1 CNV Variant_4912 are unlikely to play a major role in the pathogenesis of osteoporosis in Caucasian women. However, replication studies and further research would be required to accurately validate this, since this study was subject to numerous limitations which may have influenced the findings, such as low statistical power, technical difficulties, limiting experimental reagents, and time constraints. In addition, there is evidence from previous studies implicating intron 1 and the 5’ end of ESR1 and intron 2 of AXIN1 with BMD. Variant_4512 and Variant_4912 encompass the 5’ end of their respective genes, thereby implicating the promoter sequence and regulatory elements, which in turn implicates the control of gene expression. Therefore, despite the lack of statistically significant findings in this study, the ESR1 CNV Variant_4512 and the AXIN1 CNV Variant_4912 both still remain as promising candidates for involvement in BMD and the risk of osteoporosis. Moreover, other CNVs in the same genomic regions may also be relevant for future research. Further research would benefit from addressing the potential effect of environmental risk factors on CNV. It is possible that the ESR1 CNV Variant_4512 may be modified in an environment-specific manner, which influences its effect on BMD, as indicated by the almost statistically significant association between ESR1 CNV and BMD observed in this study when controlled for covariates at the femoral neck (p = 0.052). Moreover, previous studies highlight that the majority of known genes subject to CNV are not even located within the identified region of genomic variation, and also that osteoporosis may be more susceptible to genetic variation affecting the CN of non-coding regions. Therefore, further research should also focus on gene expression studies to determine whether the ESR1 CNV Variant_4512 exerts position effects on the transcriptional control of another gene, which may in turn be the primary gene associated with osteoporosis.
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Jo, Adrienne. "Reduced Expression of Single 16p11.2 CNV Genes Alters Neuronal Morphology." Scholarship @ Claremont, 2019. https://scholarship.claremont.edu/cmc_theses/2091.

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The 16p11.2 copy-number variant (CNV) represents a well-characterized, high-risk factor for autism spectrum disorder that additionally predisposes deletion carriers (16pdel) to increased head circumference, known as macrocephaly. The 16p11.2 CNV consists of 29 known genes, many of which are associated with neurobiological processes relevant for macrocephaly such as cell proliferation and apoptosis, differentiation and cell growth. Our lab’s previous work has demonstrated that induced pluripotent stem cell (iPSC)-derived neurons from 16pdel carriers show altered cellular morphology related to growth, which include increased soma size, total dendritic length and dendritic complexity. However, specific CNV genes responsible for these phenotypes have not been established. Here, we investigate the relationship between three 16p11.2 genes and the observed cellular phenotypes. We differentiated neurons from control iPSC-derived neural progenitor cells (NPCs) and used short hairpin RNA (shRNA) to reduce the expression of these CNV genes: KCTD13, MAPK3 and C16ORF53. We then assessed neuronal morphology by evaluating soma size, total dendritic length and dendritic complexity. We demonstrate that knocking down KCTD13 and C16ORF53 increases soma size and total dendrite length, respectively, similar to that observed in 16pdel iPSC-derived neurons. For this reason, we speculate that these genes may have a role in cell growth and might underlie macrocephaly. Thus, our study investigates genes in the 16p11.2 CNV that contribute to neuronal morphology, which may have a role in influencing brain size.
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Books on the topic "CNV"

1

Vos, Kees de, joint author, ed. CNV werkt: Werken aan toekomst. Utrecht: CNV BedrijvenBond, 2009.

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Dijk, Jan Jacob van. Door geweld gedwongen: Het CNV in oorlogstijd. Utrecht: Vakcentrale CNV, 1996.

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Veen, Gerrita van der. Tussen overleg en strijd: CNV en collectieve acties. Kampen: J.H. Kok, 1990.

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Wim, Berkelaar, ed. Inventaris van de archieven van de Voedingsbond CNV en voorlopers (1894-) 1898-1983 (-1996). Amsterdam: Stichting beheer IISG, 2000.

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Wim, Berkelaar, ed. Inventaris van de archieven van de industriebond CNV en voorlopers 1890-1983 (-1996). Amsterdam: Stichting Beheer IISG, 2000.

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Voor het volk om Christus' wil: Een geschiedenis van het CNV. Hilversum: Verloren, 2009.

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Hazenbosch, Piet. Voor het volk om Christus' wil: Een geschiedenis van het CNV. Hilversum: Verloren, 2009.

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John, Mueller. CNA/CNE study guide. New York: McGraw-Hill, 1998.

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Ye, Shufang (ji du jiao zuo zhe), wen zi zuo zhe, Zhang, Yongshu, wen zi zuo zhe, Zheng, Zilin, wen zi zuo zhe, Mai Mingqi yi zhe, Zhong Bishan yi zhe, Mai, Zhixiong, yi shu chuang zuo zhe, and Zhao, Lelin, yi shu chuang zuo zhe, eds. Er tong pin ge sheng jing: Xin yue pian : The CNV kid's bible : a character builder : new testament stories. [Xiang gang]: [Huan qiu sheng jing gong hui], 2012.

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Mueller, John. The Novell CNA/CNE study guide. 2nd ed. New York: McGraw-Hill, 1996.

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Book chapters on the topic "CNV"

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Kim, Ju Han. "CNV Analysis." In Genome Data Analysis, 299–312. Singapore: Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-1942-6_17.

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Wyandt, Herman E., Golder N. Wilson, and Vijay S. Tonk. "A CNV Catalogue." In Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis, 235–417. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-3035-2_10.

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Arevalo, J. Fernando. "CNV After LASIK." In Difficult and Complicated Cases in Refractive Surgery, 451–53. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-55238-0_97.

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Salem, Rany M., and Laura Rodriguez-Murillo. "Copy Number Variant (CNV)." In Encyclopedia of Behavioral Medicine, 500–501. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_682.

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Bauer, Herbert. "Determinants of CNV Amplitude." In Slow Potential Changes in the Brain, 45–61. Boston, MA: Birkhäuser Boston, 1993. http://dx.doi.org/10.1007/978-1-4757-1379-4_4.

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Fattapposta, Francesco, Caterina Pauletti, Daniela Mannarelli, Vilfredo De Pascalis, Joseph Ciorciari, David Crewther, David White, and Gennady Knyazev. "Contingent Negative Variation (CNV)." In Neuromethods, 23–32. New York, NY: Springer US, 2023. http://dx.doi.org/10.1007/978-1-0716-3545-2_2.

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Salem, Rany M., and Laura Rodriguez-Murillo. "Copy Number Variant (CNV)." In Encyclopedia of Behavioral Medicine, 555. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-39903-0_682.

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Giri, Prerna, and Bhagyalaxmi Mohapatra. "Copy Number Variant (CNV)." In Encyclopedia of Animal Cognition and Behavior, 1–4. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-47829-6_8-1.

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Bhende, Muna, and Arshee S. Ahmed. "Management of Inflammatory CNV." In Uveitis: An Update, 109–17. New Delhi: Springer India, 2016. http://dx.doi.org/10.1007/978-81-322-2295-8_12.

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Giri, Prerna, and Bhagyalaxmi Mohapatra. "Copy Number Variant (CNV)." In Encyclopedia of Animal Cognition and Behavior, 1714–17. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_8.

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Conference papers on the topic "CNV"

1

Singh, Salvi, and Nancy Lan Guo. "Genet-CNV." In BCB '18: 9th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3233547.3233652.

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Onsongo, Getiria, Ham Ching Lam, Matthew Bower, and Bharat Thyagarajan. "Hadoop-CNV-RF." In BCB '20: 11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. New York, NY, USA: ACM, 2020. http://dx.doi.org/10.1145/3388440.3414861.

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Pires, Sergio Fernandes Senna. "Compreendendo a comunicação não-verbal: Aplicações na área da saúde." In ​III SEVEN INTERNATIONAL CONGRESS OF HEALTH. Seven Congress, 2023. http://dx.doi.org/10.56238/homeiiisevenhealth-009.

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Neste artigo, apresentamos uma introdução teórica à comunicação não-verbal (CNV), apresentando suas fontes, funções e aplicações no campo da saúde. A CNV, conhecida por vários termos ao longo do tempo, como "linguagem corporal", ganhou destaque graças a livros de autoajuda sobre linguagem corporal. No entanto, é importante observar que a "linguagem corporal" abrange apenas uma fração da CNV, concentrando-se em comportamentos não verbais observáveis. Não obstante, a CNV tem uma presença constante no cotidiano, muitas vezes passando despercebida, mas suas funções e influências são profundas. Profissionais de saúde devem dominá-la, uma vez que a CNV pode desempenhar um papel crucial na interação com os pacientes, na aquisição e na validação de informação. Destacamos a relevância da CNV para profissionais de saúde, organizando seus aspectos teóricos de acordo com suas funções: (1) contextualização da comunicação, quando a CNV fornece contexto à comunicação, ajudando a compreender o ambiente e as emoções dos pacientes; (2) suplementação à comunicação verbal, uma vez que complementa a comunicação verbal, enfatizando informações importantes e revelando dúvidas, ansiedades e emoções não expressas verbalmente; e (3) regulação de interações: A CNV regula as interações, o fluxo e a duração da conversação, além de influenciar a qualidade da relação terapêutica. Também enfatizamos a auto-observação da CNV por parte dos profissionais de saúde, ajudando-os a compreender suas próprias reações em relação ao ambiente, narrativas e emoções dos pacientes. Além disso, ressaltamos a importância de interpretar a CNV com base em conhecimento confiável, dada a disseminação de informações pseudocientíficas sobre o assunto. Concluímos que a aprendizagem da CNV é valiosa para profissionais de saúde, aprimorando a comunicação e a percepção das emoções, o que, por sua vez, eleva a qualidade do atendimento e da relação terapêutica.
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Salmi, Ayyoub, Sara El Jadid, Ismail Jamail, Taoufik Bensellak, Romain Philippe, Veronique Blanquet, and Ahmed Moussa. "CNV-LDC: An Optimized CNV Detection Method for Low Depth of Coverage Data." In 8th International Conference on Bioinformatics Models, Methods and Algorithms. SCITEPRESS - Science and Technology Publications, 2017. http://dx.doi.org/10.5220/0006111600370042.

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Eisner, Ann E., M. Elizabeth Hartnett, John J. Weiter, Sheldon M. Buzney, and Stephen A. Bums. "Advantages of Infrared Imaging in Detecting Choroidal New Vessels." In Vision Science and its Applications. Washington, D.C.: Optica Publishing Group, 1995. http://dx.doi.org/10.1364/vsia.1995.sua1.

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The uncontrolled growth of choroidal new vessels (CNV) is the major cause of permanent vision loss in adults; initial treatment is unsuccessful in a large proportion of patients, particularly those with age-related macular degeneration1. There are several potential factors leading to the poor prognosis. Chiefly, it is difficult to detect the onset and to localize the components of the CNV. Treatable components remain controversial.
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Ahmed, Umayr, Van Phuc Nguyen, Josh Zhe, Justin Hu, Jessica Henry, Xueding Wang, and Yannis M. Paulus. "Combination of Photoacoustic and Optical Coherence Tomography imaging modalities for visualization of Laser induced Choroidal Neovascularization Progression in Pigmented Rabbits." In Frontiers in Optics. Washington, D.C.: Optica Publishing Group, 2023. http://dx.doi.org/10.1364/fio.2023.jm4a.89.

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This study presents a novel multimodality photoacoustic microscopy (PAM) and optical coherence tomography (OCT) imaging techniques for longitudinal visualization of laser induced choroidal neovascularization (CNV) pathogenesis in pigmented rabbits.
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Ajisebutu, Andrew, Jeffery Zucatto, Vikas Patil, and Gelareh Zadeh. "DNA Methylation Subgroup and CNV Predict Response to Radiotherapy." In 33rd Annual Meeting North American Skull Base Society. Georg Thieme Verlag KG, 2024. http://dx.doi.org/10.1055/s-0044-1779839.

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Lande, Anil R., Sangameshwar S. Pendalwar, and Sandeep V. Paranjape. "Improved Covering Blanket method for Choroidal Neovascularization (CNV) texture quantification." In 2015 IEEE International Conference on Electronics, Computing and Communication Technologies (CONECCT). IEEE, 2015. http://dx.doi.org/10.1109/conecct.2015.7383939.

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Iizuka, Hiroyuki, Mika Sunagawa, Masataka Niwa, Hideyuki Ando, and Taro Maeda. "Detecting CNV-like variation when remembering and generating continuous motion." In 2013 IEEE Virtual Reality (VR). IEEE, 2013. http://dx.doi.org/10.1109/vr.2013.6549429.

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Ricatto, Mattia, Marco Barsacchi, and A. Bechini. "Interpretable CNV-based tumour classification using fuzzy rule based classifiers." In SAC 2018: Symposium on Applied Computing. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3167132.3167135.

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Reports on the topic "CNV"

1

Seroussi, Eyal, and George Liu. Genome-Wide Association Study of Copy Number Variation and QTL for Economic Traits in Holstein Cattle. United States Department of Agriculture, September 2010. http://dx.doi.org/10.32747/2010.7593397.bard.

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Copy number variation (CNV) has been recently identified in human and other mammalian genomes and increasing awareness that CNV might be a major source for heritable variation in complex traits has emerged. Despite this, little has been published on CNVs in Holsteins. In order to fill this knowledge-gap, we proposed a genome-wide association study between quantitative trait loci (QTL) for economic traits and CNV in the Holstein cattle. The approved feasibility study was aimed at the genome-wide characterization of CNVs in Holstein cattle and at the demonstrating of their possible association with economic traits by performing the activities of preparation of DNA samples, Comparative Genomic Hybridization (CGH), initial association study between CNVs and production traits and characterization of CNVSNP associations. For both countries, 40 genomic DNA samples of bulls representing the extreme sub-populations for economically important traits were CGH analyzed using the same reference genome on a NimbleGen tiling array. We designed this array based on the latest build of the bovine genome (UMD3) with average probe spacing of 1150 bases (total number of probes was 2,166,672). Two CNV gene clusters, PLA2G2D on BTA2 and KIAA1683 on BTA7 revealed significant association with milk percentage and cow fertility, respectively, and were chosen for further characterization and verification in a larger sample using other methodologies including sequencing, tag SNPs and real time PCR (qPCR). Comparison between these four methods indicated that there is under estimation of the number of CNV loci in Holstein cattle and their complexity. The variation in sequence between different copies seemed to affect their functionality and thus the hybridization based methods were less informative than the methods that are based on sequencing. We thus conclude that large scale sequencing effort complemented by array CGH should be considered to better detect and characterize CNVs in order to effectively employ them in marker-assisted selection.
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2

Chejanovsky, Nor, and Bruce A. Webb. Potentiation of pest control by insect immunosuppression. United States Department of Agriculture, July 2004. http://dx.doi.org/10.32747/2004.7587236.bard.

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Our original aims were to elucidate the mechanisms through which the immunosuppressive insect virus, the Campoletis sonorensis polydnavirus (CsV) promotes replication of a well-characterized pathogenic virus, the Autographa californica multiple nucleopolyhedrovirus (AcMNPV) in hosts that are mildly or non-permissive to virus replication. According to the BARD panels criticism we modified our short-term goals (see below). Thus, in this feasibility study (one-year funding) we aimed to show that: 1. S. littoralis larvae mount an immune response against a baculovirus infection. 2. Immunosuppression of an insect pest improves the ability of a viral pathogen (a baculovirus) to infect the pest. 3. S. littoralis cells constitute an efficient tool to study some aspects of the anti- viral immune response. We achieved the above objectives by: 1. Finding melanized viral foci upon following the baculoviral infection in S . littoralis larvae infected with a polyhedra - positive AcMNPV recombinant that expressed the GFP gene under the control of the Drosophila heat shock promoter. 2. Studying the effect of AcMNPV-infection in S . littoralis immunosuppressed by parasitation with the Braconidae wasp Chelonus inanitus that bears the CiV polydna virus, that resulted in higher susceptibility of S. littoralis to AcMNPV- infection. 3. Proving that S. littoralis hemocytes resist AcMNPV -infection. 4. Defining SL2 as a granulocyte-like cell line and demonstrating that as littoralis hemocytic cell line undergoes apoptosis upon AcMNPV -infection. 5. Showing that some of the recombinant AcMNPV expressing the immuno-suppressive polydna virus CsV- vankyrin genes inhibit baculoviral-induced lysis of SL2 cells. This information paves the way to elucidate the mechanisms through which the immuno- suppressive polydna insect viruses promote replication of pathogenic baculoviruses in lepidopteran hosts that are mildly or non-permissive to virus- replication by: - Assessing the extent to which and the mechanisms whereby the immunosuppressive viruses, CiV and CsV or their genes enhance AcMNPV replication in polydnavirus- immunosuppressed H. zea and S. littoralis insects and S. littoralis cells. - Identifying CiV and CsV genes involved in the above immunosuppression (e.g. inhibiting cellular encapsulation and disrupting humoral immunity). This study will provide insight to the molecular mechanisms of viral pathogenesis and improve our understanding of insect immunity. This knowledge is of fundamental importance to controlling insect vectored diseases of humans, animals and plants and essential to developing novel means for pest control (including baculoviruses) that strategically weaken insect defenses to improve pathogen (i.e. biocontrol agent) infection and virulence.
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3

Browne, Kevin Patrick. CNA Seminar. Office of Scientific and Technical Information (OSTI), October 2015. http://dx.doi.org/10.2172/1223767.

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4

McCaffrey, Trevor, and Gordon T. Richards. CIV Distance. GitHub, October 2021. http://dx.doi.org/10.17918/civdistance.

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5

Gilreath, Jason M., and David Filsinger. Design and Prototype of the ATCOM Shipping and Storage Containers CNU-582/E, CNU-583/E, CNU-584/E and CNU-585/E,. Fort Belvoir, VA: Defense Technical Information Center, April 1997. http://dx.doi.org/10.21236/ada325449.

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White, Corina, Amanda Marshall, Ilse Zainos, Caroline Becker, Kristina Kopp, Sivashankar Sivashankar Sivakollundu, Ian Brown, et al. CPV and APR. BioPhorum, June 2021. http://dx.doi.org/10.46220/2021ds002.

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7

Wang, Li Fang, Yan Ting Cao, Tegeleqi Bu, Lin Fu, Jun Li Liu, and Jing Zhao. Do We Receive Cytomegalovirus Vaccination Before Solid Organ Transplant: a Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, November 2022. http://dx.doi.org/10.37766/inplasy2022.11.0143.

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Review question / Objective: We compared cytomegalovirus (CMV) vaccination for solid organ transplantation recipients ( SOTs) with placebo treatment, to investigate the efficacy and safety for the prevention of CMV infection in SOTs. Condition being studied: Patients after solid organ transplantation subsequently become immunosuppressed, and cytomegalovirus (CMV) is the most common opportunistic pathogen to this population. The prevalence of CMV infection can reach 50% in the general population, and further up to 64-72% in solid organ transplant recipients (SOTs). CMV seropositive donors (CMV D+) puts even more pressure of CMV infection for SOTs. Post-transplant CMV infection can lead to neutropenia, lymphopenia, thrombocytopenia, tissue/end-organ invasive CMV disease (gastroenteritis, pneumonia, hepatitis, encephalitis), other infectious diseases, graft dysfunction, and multiple organ failure. CMV can disturb immune cell function, thus is one of the major risk factors that increase mortality within 6 months after transplantation. However, practical, effective method to prevent postoperative CMV infection for SOTs remains unresolved. Vaccination of CMV is only at clinical trials stage. To date, there is a lack of guidelines or consensus for preventing CMV disease for SOTs. Given the increasing clinical trials of CMV vaccination, it is important to clarify the evidence-based benefits and risks of CMV vaccination for SOTs, and to provide the best CMV disease prevention measurements.
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Meyer, Chris. CVN 78 Gerald R. Ford Class Nuclear Aircraft Carrier (CVN 78). Fort Belvoir, VA: Defense Technical Information Center, December 2013. http://dx.doi.org/10.21236/ada613351.

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Meyer, Chris. CVN 78 Gerald R. Ford Class Nuclear Aircraft Carrier (CVN 78). Fort Belvoir, VA: Defense Technical Information Center, November 2015. http://dx.doi.org/10.21236/ad1019138.

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Adams, Edward L., Everette D. Rast, and Neal D. Bennett. CNC router evaluation procedures. Radnor, PA: U.S. Department of Agriculture, Forest Service, Northeastern Forest Experiment Station, 1995. http://dx.doi.org/10.2737/ne-gtr-201.

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