Search results for "HAp"

showing 10 items of 2767 documents

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

2006

In 2000-2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) aiming to establish the prevalence data for the individuals born between 1984 and 2004 in Estonia. All persons with probable AS or PWS (n = 184) were studied using the DNA methylation test. Individuals with abnormal methylation were all further tested by chromosomal and FISH analysis, and if necessary for uniparental disomy and UBE3A gene mutation. Nineteen cases with abnormal methylation test result were identified. Seven of them had AS, including six (85.7%) due to 15q11-13 deletion and one paternal UPD15. Twelve subjects had PWS: 4 (33%) 15q11-13 deletions, 6 (50%) mate…

EstoniaMalePediatricsmedicine.medical_specialtyPopulationDNA Mutational AnalysisPrevalenceChromosomal translocationAngelman syndromeInternal medicineEpidemiologyHappy puppet syndromeGeneticsmedicinePrevalenceHumanseducationChildGenetics (clinical)In Situ Hybridization Fluorescenceeducation.field_of_studyMolecular Epidemiologybusiness.industryDNA Methylationmedicine.diseaseUniparental disomyChromosome BandingEndocrinologyEl NiñoFemaleAngelman SyndromebusinessPrader-Willi SyndromeAmerican journal of medical genetics. Part A
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EUGENICS AND SOCIALIST THOUGHT IN THE PROGRESSIVE ERA: THE CASE OF JAMES MEDBERY MACKAYE

2018

The aim of this essay is to assess James Medbery MacKaye’s contribution to socialist thought during the Progressive Era. Largely forgotten today, MacKaye proposed a special version of socialism, which he called “Pantocracy,” based on a peculiar blend of utilitarian and eugenic assumptions. Specifically, MacKaye held that biological fitness mapped to the capacity for happiness—biologically superior individuals possess a greater capacity for happiness—and saw the eugenic breeding of “a being or race of beings capable in the first place of happiness” as a possibility open by the advent of Pantocracy. Incidentally, this essay provides further evidence that the influence of eugenic and racialist…

Eugenics060106 history of social sciencesmedia_common.quotation_subjectRace (biology)EugenicHistory and Philosophy of Science0502 economics and businessEugenicsJames Medbery MacKaye Socialism Eugenics Progressive Era0601 history and archaeologySociology050207 economicsmedia_commonGeneral Arts and HumanitiesBiological fitness05 social sciencesSocialismEnvironmental ethics06 humanities and the artsJames Medbery MacKayeSocialismSettore SECS-P/04 - Storia Del Pensiero EconomicoHappinessProgressive eraIdeologyProgressive EraGeneral Economics Econometrics and FinanceJournal of the History of Economic Thought
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Evolutionary design optimization with Nash games and hybridized mesh/meshless methods in computational fluid dynamics

2012

Eulerin virtausmallihybridized mesh/meshless methodsvirtauslaskentageneettiset algoritmitevoluutioalgoritmitposition reconstructionevoluutiolaskentahierarchical genetic algorithmsdynamic cloudsuunnitteluoptimointishape optimizationalgoritmitpeliteoriaadaptive meshless methodevolutionary algorithmsNash games
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Euroopan keskuspankin rahapolitiikan arviointi Taylorin säännön avulla

2015

Tässä pro gradu –tutkielmassa tarkastellaan Euroopan keskuspankin rahapolitiikkaa vuosina 1999-2014 Taylorin säännön avulla. Taylorin sääntö on yksinkertainen rahapolitiikkasääntö, joka kuvaa, kuinka keskuspankin tulisi reagoida muutoksiin inflaatiossa ja tuotantokuilussa. Tässä tutkimuksessa perusmuotoisen Taylorin säännön lisäksi tarkastellaan sääntöä, joka huomioi Euroopan keskuspankin odotukset tulevasta inflaatiokehityksestä. Lisäksi tutkitaan, onko EKP:n pääjohtajien vaihdoksilla sekä euroalueen pienten talouksien suhteellisen painon kasvulla euroalueessa ollut vaikutusta Taylorin säännön kertoimiin. Sääntöjä estimoidaan sekä jälkikäteen korjatusta että reaaliaikaisesta aineistosta. T…

Euroopan keskuspankkirahapolitiikkaTaylorin sääntö
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The genetic prehistory of domesticated cattle from their origin to the spread across Europe.

2014

Background Cattle domestication started in the 9th millennium BC in Southwest Asia. Domesticated cattle were then introduced into Europe during the Neolithic transition. However, the scarcity of palaeogenetic data from the first European domesticated cattle still inhibits the accurate reconstruction of their early demography. In this study, mitochondrial DNA from 193 ancient and 597 modern domesticated cattle (Bos taurus) from sites across Europe, Western Anatolia and Iran were analysed to provide insight into the Neolithic dispersal process and the role of the local European aurochs population during cattle domestication. Results Using descriptive summary statistics and serial coalescent s…

EuropeEvolution MolecularGenetics PopulationHaplotypesModels GeneticAnimals DomesticAnimalsGenetic VariationCattleResearch ArticleBMC genetics
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Constraining the magnitude of the Chiral Magnetic Effect with Event Shape Engineering in Pb–Pb collisions at √sNN = 2.76 TeV

2018

In ultrarelativistic heavy-ion collisions, the event-by-event variation of the elliptic flow v2 reflects fluctuations in the shape of the initial state of the system. This allows to select events with the same centrality but different initial geometry. This selection technique, Event Shape Engineering, has been used in the analysis of charge-dependent two- and three-particle correlations in Pb–Pb collisions at sNN=2.76 TeV. The two-particle correlator 〈cos⁡(φα−φβ)〉, calculated for different combinations of charges α and β, is almost independent of v2 (for a given centrality), while the three-particle correlator 〈cos⁡(φα+φβ−2Ψ2)〉 scales almost linearly both with the event v2 and charged-part…

Event Shape EngineeringNuclear and High Energy Physicsheavy-ion collisions
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Mixed support for an alignment between phenotypic plasticity and genetic differentiation in damselfly wing shape

2023

The relationship between genetic differentiation and phenotypic plasticity can provide information on whether plasticity generally facilitates or hinders adaptation to environmental change. Here, we studied wing shape variation in a damselfly (Lestes sponsa) across a latitudinal gradient in Europe that differed in time constraints mediated by photoperiod and temperature. We reared damselflies from northern and southern populations in the laboratory using a reciprocal transplant experiment that simulated time-constrained (i.e. northern) and unconstrained (southern) photoperiods and temperatures. After emergence, adult wing shape was analysed using geometric morphometrics. Wings from individu…

Evolutionary Biologywing shapeplastisuuslatitudephotoperiodZoologiphenotypic plasticityEvolutionsbiologipopulaatiotpopulaatiogenetiikkagenetic differentiationfenotyyppiG x EZoologyLestesEcology Evolution Behavior and SystematicsJournal of Evolutionary Biology
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Phylogeography of a Habitat Specialist with High Dispersal Capability: The Savi’s Warbler Locustella luscinioides

2012

In order to describe the influence of Pleistocene glaciations on the genetic structure and demography of a highly mobile, but specialized, passerine, the Savi's Warbler (Locustella luscinioides), mitochondrial DNA sequences (ND2) and microsatellites were analysed in c.330 individuals of 17 breeding and two wintering populations. Phylogenetic, population genetics and coalescent methods were used to describe the genetic structure, determine the timing of the major splits and model the demography of populations. Savi's Warblers split from its sister species c.8 million years ago and have two major haplotype groups that diverged in the early/middle Pleistocene. One of these clades originated in…

Evolutionary Genetics0106 biological sciencesAnimal EvolutionPopulation Dynamicslcsh:MedicinePopulation genetics01 natural sciencesCoalescent theoryWarblerSongbirdslcsh:ScienceGenome EvolutionPhylogenyLikelihood FunctionsPrincipal Component Analysis0303 health scienceseducation.field_of_studyMultidisciplinarybiologyGenomicsEuropePhylogeographyGenetic structureResearch ArticleGene FlowMolecular Sequence DataPopulationDNA Mitochondrial010603 evolutionary biology03 medical and health sciencesAnimalsEvolutionary SystematicseducationBiologyEcosystemDemography030304 developmental biologyAnalysis of VarianceEvolutionary BiologyBase SequenceModels Geneticlcsh:RComputational BiologyLocustella luscinioidesBayes TheoremSequence Analysis DNAbiology.organism_classificationOrganismal EvolutionPhylogeographyGenetics PopulationHaplotypesEvolutionary biologyBiological dispersallcsh:QAnimal MigrationGenome Expression AnalysisPopulation GeneticsMicrosatellite RepeatsPLoS ONE
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On the complexity of the Saccharomyces bayanus taxon: Hybridization and potential hybrid speciation

2014

Although the genus Saccharomyces has been thoroughly studied, some species in the genus has not yet been accurately resolved; an example is S. bayanus, a taxon that includes genetically diverse lineages of pure and hybrid strains. This diversity makes the assignation and classification of strains belonging to this species unclear and controversial. They have been subdivided by some authors into two varieties (bayanus and uvarum), which have been raised to the species level by others. In this work, we evaluate the complexity of 46 different strains included in the S. bayanus taxon by means of PCR-RFLP analysis and by sequencing of 34 gene regions and one mitochondrial gene. Using the sequenc…

Evolutionary GeneticsSaccharomyces bayanusDIVERSITYSequence Homologylcsh:MedicineSaccharomycesPolymerase Chain Reaction//purl.org/becyt/ford/1 [https]Genética y HerenciaPCR-RFLP analysisFungal EvolutionCluster Analysislcsh:ScienceGenome EvolutionPhylogenyGeneticsMultidisciplinarySACCHAROMYCES EUBAYANUSPhylogenetic analysisbiologyStrain (biology)Systems BiologyGenomicsS. bayanusPolymorphism Restriction Fragment LengthCIENCIAS NATURALES Y EXACTASResearch ArticleEvolutionary ProcessesGenetic SpeciationMolecular Sequence DataIntrogressionMycologyGenome ComplexityMicrobiologyGenètica molecularCiencias BiológicasSaccharomycesSpecies SpecificityPhylogeneticsGenetic variationGeneticsYEAST//purl.org/becyt/ford/1.6 [https]HybridizationAllelesHybridEvolutionary BiologyBase Sequencelcsh:ROrganismsFungiBiology and Life SciencesComputational BiologyGenetic VariationSACCHAROMYCES PASTORIANUSSequence Analysis DNAComparative Genomicsbiology.organism_classificationYeastGenetics PopulationHaplotypesFungal ClassificationHybridization GeneticHybrid speciationlcsh:Q
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Universal natural shapes: From unifying shape description to simple methods for shape analysis and boundary value problems

2012

Gielis curves and surfaces can describe a wide range of natural shapes and they have been used in various studies in biology and physics as descriptive tool. This has stimulated the generalization of widely used computational methods. Here we show that proper normalization of the Levenberg-Marquardt algorithm allows for efficient and robust reconstruction of Gielis curves, including self-intersecting and asymmetric curves, without increasing the overall complexity of the algorithm. Then, we show how complex curves of k-type can be constructed and how solutions to the Dirichlet problem for the Laplace equation on these complex domains can be derived using a semi-Fourier method. In all three …

Evolutionary algorithmlcsh:MedicineGeometryBioinformaticsCurvature[ INFO.INFO-CV ] Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV]Plant Genetics01 natural sciences03 medical and health sciencessymbols.namesake[ MATH.MATH-AP ] Mathematics [math]/Analysis of PDEs [math.AP]Non-Euclidean geometryApplied mathematics[MATH.MATH-AP]Mathematics [math]/Analysis of PDEs [math.AP]Boundary value problemBounday Value Problem0101 mathematicslcsh:ScienceBiologyMathematical ComputingGeneralLiterature_REFERENCE(e.g.dictionariesencyclopediasglossaries)030304 developmental biologyLaplace's equationPhysicsDirichlet problem0303 health sciencesMultidisciplinaryPhysicsApplied Mathematicslcsh:R010102 general mathematicsComputational Biology[INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV]Laplace equationModels TheoreticalGielis CurvesFourier analysisComputer Sciencesymbolslcsh:QEngineering sciences. TechnologyAlgorithmsMathematicsShape analysis (digital geometry)Research ArticleDevelopmental BiologyComputer Modeling
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