Relevant bibliographies by topics / Polymorfismus

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Academic literature on the topic 'Polymorfismus'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 February 2022

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Journal articles on the topic "Polymorfismus"

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Helland, Åslaug. "Polymorfismer assosiert med eggstokkreft." Tidsskrift for Den norske legeforening 129, no. 19 (2009): 1966. http://dx.doi.org/10.4045/tidsskr.09.1069.

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Krstevska, M., S. Dzhekova-Stojkova, G. Bosilkova, A. Petlichovski, and M. Spiroski. "Abstract: P1169 HOMOCYSTEINE, MTHFR POLYMORFISMS AND ARTERIAL OCCLUSIVE DISEASE." Atherosclerosis Supplements 10, no. 2 (June 2009): e1197. http://dx.doi.org/10.1016/s1567-5688(09)71162-6.

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Kimpen, J. L. L., G. M. van Bleek, L. J. Bont, T. Kimman, and B. Hoebee. "Respiratoir syncytieel virus bronchiolitis: rol van genetische polymorfismen." Tijdschrift voor kindergeneeskunde 72, no. 2 (April 2004): 59–64. http://dx.doi.org/10.1007/bf03061486.

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BELPAIRE FM. "Het cytochroom-P450-enzymsysteem: genetisch polymorfisme en geneesmiddeleninteracties." Tijdschrift voor Geneeskunde 58, no. 10 (January 1, 2002): 710–18. http://dx.doi.org/10.2143/tvg.58.10.5001340.

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Costache, Irina Iuliana, Florin Mitu, Razan Al Namat, Iuliu Ivanov, Roxana Popescu, Ovidiu Mitu, Alexandru Dan Costache, and Ana Clara Aprotosoaie. "Is There a Link Between Clopidogrel Resistance and Common Risk Factors for Atherosclerosis in Patients with Acute Coronary Syndrome?" Revista de Chimie 68, no. 11 (December 15, 2017): 2726–30. http://dx.doi.org/10.37358/rc.17.11.5963.

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The antiplatelet effect of clopidogrel prodrug is characterized by a wide inter-individual variability that has a significant clinical relevance. Among varios factors that are involved in the occurrence of clopidogrel resistance, the genetic polymorphisms play a key role. The aim of the present study was to investigate the impact of some risk factors for atherosclerosis on the antiplatelet effect of clopidogrel in patients with acute coronary syndrome and the possible correlation with metabolizer phenotype of patients based on CYP2C19 polymorfisms. We found a statistically significant correlation (p value [ 0.05) between smoking or dyslipidaemia and the presence of ultrarapid metabolizer phenotype for clopidogrel in our research population.
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Kroupin, P. Yu, M. G. Divashuk, M. S. Bazhenov, L. A. Gritsenko, I. G. Tarakanov, V. P. Upelniek, V. I. Belov, et al. "SALT TOLERANCE POLYMORFISM IN SEADLINGS OF WHEAT-WHEATGRASS HYBRIDS." Sel'skokhozyaistvennaya Biologiya, no. 5 (October 2013): 44–53. http://dx.doi.org/10.15389/agrobiology.2013.5.44eng.

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van Royen-Kerkhof, A., W. L. van der Pol, N. M. van Sorge, E. A. M. Sanders, and W. Kuis. "Auto-immuniteit en polymorfismen van het aangeboren en specifieke immuunsysteem." Tijdschrift voor kindergeneeskunde 72, no. 2 (April 2004): 88–93. http://dx.doi.org/10.1007/bf03061490.

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Capilla, A., E. Donat, C. Espin??s, F. Palau, and C. Ribes-Koninckx. "ASSOCIATION OF POLYMORFISMS IN GENOMIC REGIONS IMPLICATED IN IMMUNE RESPONSE WITH COELIAC DISEASE." Journal of Pediatric Gastroenterology and Nutrition 40, no. 5 (May 2005): 634–35. http://dx.doi.org/10.1097/00005176-200505000-00073.

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Maniotis, C., D. Papadogiannis, A. Miliou, C. Tsioufis, K. Chantziara, G. Vaiopoulos, and C. Stefanadis. "THE AGT M235T AND THE GNB3 C825T POLYMORFISMS AND INSULIN RESISTANCE IN PREHYPERTENSION." Journal of Hypertension 29 (June 2011): e470-e471. http://dx.doi.org/10.1097/00004872-201106001-01417.

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Saarinen, S., U. Broomé, A. Ligér, R. Olsson, R. Hultcrantz, and O. Olerup. "CTLA-4 gene polymorfism associated with primary sclerosing cholangitis (PSC)." Journal of Hepatology 28 (1998): 124. http://dx.doi.org/10.1016/s0168-8278(98)80686-7.

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Dissertations / Theses on the topic "Polymorfismus"

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Ječmínková, Kateřina. "Vztah genů pro imunitní systém k funkčním vlastnostem (reprodukce a zdraví) u skotu." Doctoral thesis, Česká zemědělská univerzita v Praze, 2016. http://www.nusl.cz/ntk/nusl-259726.

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In cattle, we observe a decrease trend in the level of reproduction and animal health. This decline is associated with an increase in milk yield. This situation has a negative impact on the farm economy, animal welfare and safety of product. The traditional selection program is in these so-called functional traits ineffective and there is need to find a new ways of animal breeding. In this problematic traits marker assisted selection and the related genomic animal selection is proposed to be a good tool for animal breeding. The present work summarizes the problems of selected functional traits in cattle and provides an overview on genetic markers and possibilities for their use. Further attention is paid to the studied genes and their associations to functional features which have been published in the scientific literature. At the end, the first results are presented describing the genotype frequencies for the first four studied polymorphic regions in Czech Fleckvieh cattle.
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Šalanda, Ondřej. "Strojové učení v úloze predikce vlivu nukleotidového polymorfismu." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2015. http://www.nusl.cz/ntk/nusl-234918.

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This thesis brings a new approach to the prediction of the effect of nucleotide polymorphism on human genome. The main goal is to create a new meta-classifier, which combines predictions of several already implemented software classifiers. The novelty of developed tool lies in using machine learning methods to find consensus over those tools, that would enhance accuracy and versatility of prediction. Final experiments show, that compared to the best integrated tool, the meta-classifier increases the area under ROC curve by 3,4 in average and normalized accuracy is improved by up to 7\,\%. The new classifying service is available at http://ll06.sci.muni.cz:6232/snpeffect/.
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Kaňková, Veronika. "Stanovení různých forem kaseinu v mléce." Master's thesis, Česká zemědělská univerzita v Praze, 2016. http://www.nusl.cz/ntk/nusl-259391.

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Casein proteins are important escpecially for cheese making. In addition to technology and other factors, casein concentration in milk and relative representation of individual casein fractions influence cheese yield. Majority fractions are alfa-casein, beta-casein and kappa-casein. For the determination of proteins in the milk can be used electrophoretic techniques or near infra-red spektrometry. High performance liquid chromatography (HPLC) is going to be used. HPLC is widely used analytical method, which is based on differential affinity of the substances to the mobile and the stationary phase. The thesis has introduced the method of determining the casein fractions by HPLC. The method was partially optimized using cow milk and calibrated to the standard solutions, which were purchased casein fractions derived from the bovine milk. Real samples of cow, sheep and goat milk were analyzed. The goat milk was available in several variants: Sanski goat milk and white shorthair goat from domestic or farm breeding. All milk samples were analyzed for casein and casein fractions proportions. Chromatograms show that the casein formula is different in cow, sheep and goat milk. Different concentrations of the casein fraction in the milk of various animal species have been statistically detected in almost all cases. The exception was the concentration of beta-casein in the milk of white shorthair goat from the domestic and the farm breeding and cow milk. In these types of milk there was no statistically significant difference in the concentration of beta-casein. Analysis of individual samples of white shorthair goat milk from the farm breeding shown that casein content in the milk of different animals reared under the same conditions may be different. Ratios of beta-casein to alfa-casein, beta-casein to kappa-casein and alfa-casein to kappa-casein were evaluated in all samples. Interspecific comparisons proved that ratios were statistically significantly different in all milks. In the milk of Sanski goat, there was found the stable ratio of beta-casein to alfa-casein during lactation. For all goat milk there were typical higher values of the ratio of beta-casein to kappa-casein. The ratio of alfa-casein to kappa-casein was highest in the sheep milk. Despite some shortcomings, it is possible to use the HPLC method possible for these purposes, but it is necessary to continue with its optimization.
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Novák, David. "Studium polymorfie a optimalizace krystalizace farmaceuticky aktivních látek." Master's thesis, Vysoké učení technické v Brně. Fakulta chemická, 2008. http://www.nusl.cz/ntk/nusl-216442.

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Active pharmaceutical ingredients (APIs) are frequently delivered to the patient in the solid-state as part of an approved dosage form (tablets, capsules, etc.). Understanding and controlling the solid-state chemistry of APIs is therefore an important aspect of the drug development process. APIs can exist in a variety of distinct solid forms, including polymorphs, solvates, hydrates, co-crystals and amorphous solids. Each form displays unique physicochemical properties that can profoundly influence the bioavailability, manufacturability, stability and other performance characteristics of the drug. Most APIs are purified and isolated by crystallisation from an appropriate solvent during the final step in synthetic process. The main objective of a crystallisation process is to produce crystals with desired properties such as particle size distribution (PSD), shape and purity. All pharmaceutical dosage forms must be produced in uniform units, and good content of uniformity is only possible when the size of the active component is carefully controlled. For on-line control of crystallisations of Quetiapine Fumarate to achieve desired PSD and no changed physicochemical purity was used the Lasentec Focus Beam Reflectance Measurement (FBRM) system.
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Crapanzano, Laura. "Polymorfisme du soufre : une étude structurale et dynamique." Université Joseph Fourier (Grenoble), 2006. http://www.theses.fr/2006GRE10054.

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Cette thèse est une contribution à l’étude du polymorphisme du soufre à l’état solide et à l’état liquide avec, en particulier un examen des transitions liquide-liquide. Une introduction sur le polymorphisme dans les matériaux simples conduit à faire le choix d’étudier le soufre et on présente l’état des connaissances actuelles sur le diagramme P T du soufre. Puis on décrit les dispositifs haute pression; enclume diamant et presse à grand volume, mis en place à l’ESRF pour réaliser des études structurales ou dynamiques in situ, ainsi que les techniques d’étude de la structure et de la dynamique ; diffraction X, diffusion Raman, diffusion X inélastique utilisés pour ce travail. La partie suivante expose les résultats obtenus sur la structure des différents allotropes du soufre. Grâce à la possibilité de mesures in situ avec un flux intense et à l’utilisation conjointe de la diffraction X et de la diffusion Raman il a été possible de caractériser la structure de phases à l’équilibre et de construire d’un nouveau diagramme de phases du soufre en pression et température. La dernière partie concerne les résultats obtenus sur la dynamique du soufre liquide autour de la transition de polymérisation. On caractérise ainsi, aux basses températures, un liquide moléculaire classique dont la dynamique est celle des molécules S8. Aux plus hautes températures une solution de polymères présente encore le mode à haute fréquence correspondant aux molécules S8 mais aussi un autre, à basse fréquence, qui correspond à des fragments de chaînes interconnectes
This thesis deals with an investigation of polymorphism in both solid and liquid state of sulphur. Emphasis has been put on the polymer transition of liquid sulphur. From a short introduction to polymorphism, sulphur appears as a convenient system for these studies. The state of the art of the P T diagram of sulphur is discussed. Then the manuscript describes the high pressures devices and introduces the ESRF used techniques in order to get either structural or dynamical in situ information; namely X ray scattering, Raman scattering and inelastic X ray scattering. The following part is devoted to the structural results obtained on several sulphur allotropes. Owing to the possibility of in situ measurements with high flux and by using together X-ray and Raman scattering, the structure of equilibrium phases has been determined. Then a new T P phase diagram of sulphur has been obtained. The last part concerns the dynamical results obtained in the temperature range of the polymerisation transition. Above the transition sulphur behaves as a conventional molecular liquid made of S8 units. At higher temperature it still exhibits S8 molecular motion. However a lower frequency mode shows up. It corresponds to the dynamics of cross linked chain fragments
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Smajlovic, Dzenan. "Bestämning av FTO (Fat mass and obesity associated gene) polymorfism." Thesis, University of Kalmar, School of Pure and Applied Natural Sciences, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:hik:diva-804.

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Vetenskapen har på senare år försökt fastställa de olika orsaker som leder till fetma. Det är känt att högt energiintag och för lite motion för eller senare hos de flesta individer resulterar i fetma. Det som kan konstateras är att ärftlighet i samspel med miljön vi lever i och påverkas av kan vara den huvudsakliga orsaken till en rad sjukdomar inklusive fetma. På senare år har forskare upptäckt olika gener som på ett eller annan sett är involverade i ämnesomsättningen. En sådan gen är ”fat mass and obesity associated gene”, FTO. Denna gen återfinns på kromosom 16 och har en storlek på 410 kilobaspar. Genen består av nio kodande områden, exoner, och 8 icke kodande områden, introner. Genens funktion är inte fastställd men den tycks både reglera ämnesomsättningen och lipolysen i kroppen. Tidigare studier har konstaterat att en specifik polymorfi i nukleotid rs9939609 medför ökad risk för sjuklig fetma. Uppsättningen som förekommer i nukleotiden uttrycks med A och T. Där dubbel uppsättning av A- allelen klassas som ärftlig risk för fetma. Syftet med detta examensprojekt är att bestämma polymorfi hos FTO genen med hjälp av två olika pyrosekvenserings- baserade metoder. Metod 1 bygger på extraktion av DNA från helblod, sedan amplifiering med PCR och slutligen pyrosekvensering. Metod 2, som jämfördes med metod 1, bygger på PCR direkt på helblod och pyrosekvensering. Blod från 97 friska individer analyserades. Med metod 1 konstaterades förekomst av följande genotyper i provmaterialet, 11 A/A homozygota, det vill säga har riskallelen för fetma i dubbeluppsättning, 50 A/T heterozygota och 36 T/T, vildtyp, som står för minskad ärftlig risk för fetma respektive ingen alls. Med metod 2 som skulle testas, visade sig resultatet överensstämma med metod 1. Med metod 2 erhölls följande resultat 11 A/A, 49 A/T och 34 T/T. Med metod 2 kunde inte 3 prov analyseras. Slutsatsen som kan dras utifrån studien i detta projekt är att metod 2 är likvärdig metod 1 ur analyssynpunkt. Metod 2 är arbetsbesparande tidsmässigt och även billigare då DNA extraktionssteget inte behöver genomföras.

2008:BL10


Science has for a long time looked for an answer for obesity. Obesity is often explained as the problem of the energy we eat and don’t use, but obesity might also have  hereditary causes, where specific genes might play an important role. One of the recent genes found is the fat mass and obesity associated gene, FTO, which is located  on chormosome 16 and has a size of 410 kilobasepairs. The gene is composed of nine exons and eight introns. The function of the gene is not known in detail, but studies has indicated that the gene could play a part in regulating the metabolism and fat cell lipolysis. The purpose with this examination degree project was to compare two methods for analysis of polymorphism in the FTO gene. Method 1 is based on DNA purification from whole blood, amplification with PCR, and finally detection using pyrosequencing. In method 2 PCR is performed on whole blood  directly without prior DNA purification. Pyrosequencing was used with this method also to detect the polymorphism. Earlier studies have shown that theSNP (single nucleotid polymorphism) rs9939609, is associated with increased risk for obesity. Results obtained using method 1 were, 11 individuals had the A/A genotype, 50 was heterozygous (A/T), and 36 the wild type form (T/T), that is not associated with an increased risk for obesity. With method 2, the same result as with method 1 was obtained for the 94 samples of blood analyzed; 11 A/A, 49 A/T and 34 T/T were obtained. Remaining three samples of the 97 analyzed, failed in the pyrosequencing with method 2.

The conclusions  with this degreeprojcet were that method 1 and 2 gave the same results. Method 2 is recommended as it is faster and less expensive, as no prior DNA purification is needed.

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Novák, Samuel Matyáš. "Implementace součtového datového typu v C++." Master's thesis, Vysoké učení technické v Brně. Fakulta strojního inženýrství, 2020. http://www.nusl.cz/ntk/nusl-416668.

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Práce se zaobírá problematikou implementace součtového datového typu v jazyce C++. Nejprve navrhuje vlastní abstrakce pro manipulaci s posloupnostmi hodnot a typů, které následně umožňují vyjadřovat komplexní operace deklarativně. V průběhu implementace jsou prezentovány návrhové vzory obvyklé pro oblast metaprogramování. Implementace přichází s rozhodnutími odlišnými od referenční implementace. Pro manipulaci se součtovým typem jsou představeny dvě šablony funkce, lišící se sémantikou. Užití součtového typu je ukázano na příkladu konečného stavového automatu.
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Trýznová, Alena. "Polymorfismus v genu MDR1 u border kolií." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-430483.

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This thesis is focused on polymorphism of MDR1 gene c.-6-180T>G, which causes phenobarbital resistance. Phenobarbital is one of the most commonly used drug against epilepsy, which is one of the most common neurological disease in dogs with frequency between 0,5-5 % according to breed. This mutation has so far been detected only in the border collie breed, which manifests up to 30 percent resistance to the treatment of epilepsy. In the text is subscribed border collie breed, dog epilepsy and gene MDR1. Methodical part is focused on detection of the polymorphism in model population of 82 dogs. The results agree with previous studies and confirm frequency of mutant alleles 32 % within the population.
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KRÁLOVÁ, Martina. "Polymorfismus mikrosatelitových markerů u kmenů \kur{Beauveria bassiana}." Master's thesis, 2010. http://www.nusl.cz/ntk/nusl-79703.

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\kur{Beauveria bassiana} is a entomopathogenic polyphagous fungus commonly found in soil and it is parasite of soil insects, mainly of the stages of insect that occur in soil. At the present time it is used in plant protection against more than 70 species of insects. In the Czech Republic \kur{Beauveria bassiana} has the greatest importance in the fight against bark beetle \kur{Ips typographus} in the NP Šumava in these days. This study was focused on the evaluation of genetic variability \kur{Beauveria bassiana} strains on the basis of microsatellite analysis and the comparison of four separation methods: electrophoresis in 2% agarose gel, electrophoresis in 3% synergel, chip electrophoresis and fluorescent capillary electrophoresis in term of the most precise separation of PCR products. We used 41 strains which were collected in the NP Šumava and 20 strains from long-term collection determined as an exotic in this study. This large geographical scale group contains the strains from whole world and in addition it was upgraded by the strains collected from the NP Krkonoše and South Moravia. For the microsatellite analysis there were used 11 pairs of primers but for inter-comparison of separative methods were chosen only 4 pairs of primers. The population of \kur{Beauveria bassiana} strains collected from the NP Šumava were evaluated by analysis of microsatellites as a conservative and fully closed regardless of the source and the location. The strains from the large geographical scale group showed the great genetic variability. In terms of separation, the best and most suitable separation method was proved, the fluorescent capillary electrophoresis. Despite of its difficult financial aspect, this method was evaluated as the most precise and the most sensitive. Its advantage is in possibility to detect the smallest differences in the length of single allele in the range 1-2 bp, which is for the gel electrophoresis impossible.
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Červinková, Barbora. "Genetický polymorfismus v HFE genu v české populaci." Master's thesis, 2012. http://www.nusl.cz/ntk/nusl-309360.

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Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Bc. Barbora Červinková Supervisor: Doc. PharmDr. Martin Beránek, Ph.D. Title of diploma work: Genetic polymorphism of the HFE gene in Czech population Outline: The main objective of the thesis was to map the incidence of the three mutations (C282Y, H63D, S65C) in the HFE gene in the Czech population. Consequently, the obtained results were compared with the reported occurrence in the world. Methods: The work involved the isolation of DNA from buccal swabs obtained from 167 donors (65 men, 102 women; average age for men was 31, for women 28). Isolated DNA strings were amplified by PCR methods using 5'-CAG ATC CTC ATC TCA CTG-3' and 5'-CTG GAT AAC CTT GGC TGT ACC CCC-3' primers for C282Y mutation, 5'-GCC ACA TCT GGC TTG AAA TT-3' and 5'-ACA TGG TTA AGG CCT GTT GC GCC ACA- 3' primers for H63D and S65C mutations. DNA samples were treated with restriction enzymes Rsa I, Bcl I and Hinf I, for C282Y, H63D and S65C mutations, respectively. Finally, the restriction fragments were separated by gel electrophoresis (2 % agarose gel). Results: C282Y mutation was present in 0 (0 %) and 19 (11,38 %) samples as homozygote or heterozygote, respectively. Moreover, C282Y mutation was present in 3 (1,80 %)...
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