Search results for "Variations"

showing 10 items of 129 documents

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

2013

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…

AdultMaleCancer ResearchMicrocephalycongenital hereditary and neonatal diseases and abnormalitiesAdolescentDNA Copy Number Variationslcsh:QH426-470Developmental DisabilitiesPopulationGenome-wide association studyBiologyNervous System MalformationsCorpus callosumPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineCerebellummental disordersGeneticsPolymicrogyriamedicineHumansCopy-number variationChildAgenesis of the corpus callosumeducationMolecular BiologyGenetics (clinical)Ecology Evolution Behavior and SystematicsExome sequencing030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyGenome HumanInfant NewbornInfantMiddle Agedmedicine.disease3. Good healthMalformations of Cortical Developmentlcsh:GeneticsChild PreschoolFemaleAgenesis of Corpus Callosum030217 neurology & neurosurgeryResearch ArticleGenome-Wide Association StudyPLoS Genetics
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

2012

International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …

AdultMaleCandidate geneAdolescentDNA Copy Number Variations[SDV]Life Sciences [q-bio]Chromosome DisordersLocus (genetics)BiologyFibrous Dysplasia PolyostoticBioinformaticsArticleYoung Adult03 medical and health sciences0302 clinical medicineIntellectual DisabilityGeneticsmedicineHumansChildGenetic Association StudiesGenetics (clinical)030304 developmental biologyKIF1AGeneticsBehaviorComparative Genomic Hybridization0303 health sciences[ SDV ] Life Sciences [q-bio]medicine.diagnostic_testBrachydactylyBrachydactylyChromosome MappingOverweightSubtelomeremedicine.disease[SDV] Life Sciences [q-bio]Child PreschoolChromosomes Human Pair 2AutismFemaleChromosome Deletion030217 neurology & neurosurgeryComparative genomic hybridizationFluorescence in situ hybridizationEuropean Journal of Human Genetics
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Seasonal variations in the onset and healing rates of venous leg ulcers

2010

Objectives As many vascular pathologies exhibit circannual fluctuation, the aim of this study was to assess the chronobiological features of venous ulcers. Methods Based on a retrospective survey of the case histories of 391 venous ulcer patients, the rates of ulcer onset and healing in each month were analysed statistically; a time series was constructed to evaluate the seasonality. Results There was a significantly higher frequency of ulcer onset during the warmer part of the year (April–October), and onset showed strong seasonality. Healing rates were also unequally and statistically significantly distributed throughout the year: ulcers that appeared or that were treated with specialized…

AdultMalemedicine.medical_specialtyHot TemperatureExacerbationChronic venous insufficiencyModels BiologicalGastroenterologyVaricose UlcerIschemiaRetrospective surveyInternal medicineleg ulcervenous insufficiencymedicineHumansAgedRetrospective StudiesAged 80 and overLegWound Healingbusiness.industryseasonal variationsRetrospective cohort studyGeneral MedicineMiddle Agedmedicine.diseaseSurgeryChemotaxis LeukocyteLeg ulcerFemalePolandSeasonsCardiology and Cardiovascular MedicinebusinessPhlebology: The Journal of Venous Disease
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Variaciones del drama historial en Lope de Vega

2013

A partir de la exposición de los fundamentos que subyacen a la investigación presentada, y que la vinculan a otras anteriores, y en los que se aborda el concepto y las características del drama historial en Lope de Vega, el ensayo se centra en la distinción de dos modos fundamentales del drama historial: la conmemoración de hechos históricos famosos, por un lado, y el análisis del conflicto moral, casi siempre de índole privada, que estalla en circunstancias históricas concretas, por el otro. Estas dos grandes estrategias de significación, la propia de la construcción de una memoria colectiva, asociada a la de la identidad de la naciente nación, y la propia de la exploración de la identidad…

Análisis de conflictos individualesI y IIThe Duke of ViseoEl príncipe perfecto I y IIanálisis de conflictos individualesTeatreEl príncipe perfectoVariations of drama historial (historical drama)conmemoración de acontecimientosAnalysis of individual conflictsAnàlisi de conflictes individualsCommemoration of eventsCommemoració d'esdevenimentsEl duque de ViseoConmemoración de acontecimientosLiterature (General)The Perfect Prince I and IIVariaciones del drama historialVariacions del drama historialLope de VegaPN1-6790Anuario Lope de Vega: Texto, Literatura, Cultura
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On the number of solutions of a Duffing equation

1991

The exact number of solutions of a Duffing equation with small forcing term and homogeneous Neumann boundary conditions is given. Several bifurcation diagrams are shown.

Applied MathematicsGeneral MathematicsMathematical analysisGeneral Physics and AstronomyDuffing equationBifurcation diagramNonlinear Sciences::Chaotic DynamicsBifurcation theoryNeumann boundary conditionInitial value problemCalculus of variationsBoundary value problemNonlinear Sciences::Pattern Formation and SolitonsBifurcationMathematicsZAMP Zeitschrift f�r angewandte Mathematik und Physik
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A boundary min-max principle as a tool for boundary element formulations

1991

Abstract A min-max principle for elastic solids, expressed in terms of the unknown boundary displacements and tractions, is presented. It is shown that its Euler-Lagrange equations coincide with the classical boundary integral equations for displacements and for tractions. This principle constitutes a suitable starting point for a symmetric sign-definite formulation of the boundary element method.

Applied MathematicsMathematical analysisGeneral EngineeringMixed boundary conditionSingular boundary methodBoundary knot methodRobin boundary conditionComputational MathematicsFree boundary problemBoundary value problemCalculus of variationsBoundary element methodAnalysisMathematicsEngineering Analysis with Boundary Elements
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Sun-Earth System Interaction studies over Vietnam: an international cooperative project

2006

International audience; During many past decades, scientists from various countries have studied separately the atmospheric motions in the lower atmosphere, in the Earth's magnetic field, in the magnetospheric currents, etc. All of these separate studies lead today to the global study of the Sun and Earth connections, and as a consequence, new scientific programs (IHY- International Heliophysical Year, CAWSES- Climate and Weather in the Sun-Earth System) are defined, in order to assume this new challenge. In the past, many scientists did not have the possibility to collect data at the same time in the various latitude and longitude sectors. Now, with the progress of geophysical sciences in …

Atmospheric Science010504 meteorology & atmospheric sciencesMeteorology[SDE.MCG]Environmental Sciences/Global ChangesContext (language use)Monsoon01 natural sciences[SDU.STU.CL] Sciences of the Universe [physics]/Earth Sciences/Climatology0103 physical sciencesEarth and Planetary Sciences (miscellaneous)lcsh:Science010303 astronomy & astrophysicsdiurnal to secular)0105 earth and related environmental sciences[SDU.OCEAN]Sciences of the Universe [physics]/Ocean Atmospherelcsh:QC801-809GeologyAstronomy and AstrophysicsEquatorial electrojetOrographylcsh:QC1-999International Heliophysical YearIonosphere (Electric fields and currents)lcsh:Geophysics. Cosmic physics[SDE.MCG] Environmental Sciences/Global Changes[ SDE.MCG ] Environmental Sciences/Global ChangesGeography13. Climate actionSpace and Planetary Science[SDU.STU.CL]Sciences of the Universe [physics]/Earth Sciences/ClimatologyGeomagnetism and paleomagnetism (Time variationsMeteorology and dynamics (Tropical meteorology)lcsh:QTropical cycloneIonosphere[ SDU.STU.CL ] Sciences of the Universe [physics]/Earth Sciences/ClimatologyLongitudelcsh:Physics
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Historical Part—Calculus of Variations

2018

The calculus of variations is an old mathematical discipline and historically finds its origins in the introduction of the brachistochrone problem at the end of the 17th century by Johann Bernoulli to challenge his contemporaries to solve it. Here, we briefly introduce the reader to the main results.

Bernoulli's principleCalculusCalculus of variationsBrachistochrone curveMathematics
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La lumachelle à Cardinia (Bivalves) et Alsatites (Ammonites) du " Revers de Côte Dure " dans l'Hettangien de la couverture sédimentaire du Massif du …

2011

29 pages; International audience; Ce travail est consacré à l'étude d'une faune de l'Hettangien moyen (Chronozone à Liassicus, Sous-Chronozone à Laqueus) qui, relativement peu diversifiée, mais très abondante et bien préservée, caractérise un niveau lumachellique spectaculaire dans la série du Jurassique inférieur, globalement peu fossilifère, de la couverture sédimentaire, du massif du Rochail (Bassin subalpin, zone dauphinoise). Cette faune, qui provient du Revers de Côte Dure (Villard-Notre-Dame, Isère, France), est essentiellement composée de bivalves (e.g., Cardinia, " Astarte ") et d'ammonites (e.g., Alsatites, Saxoceras), mais elle livre aussi, surtout au sommet du banc lumachellique…

BivalvesPaléoécologieJurassique inférieurStratigraphie[ SDU.STU.ST ] Sciences of the Universe [physics]/Earth Sciences/StratigraphyVariations du niveau marinTectonique synsédimentaireAmmonites[SDU.STU.ST]Sciences of the Universe [physics]/Earth Sciences/Stratigraphy[SDU.STU.ST] Sciences of the Universe [physics]/Earth Sciences/Stratigraphy[SDU.STU.PG] Sciences of the Universe [physics]/Earth Sciences/Paleontology[SDU.STU.PG]Sciences of the Universe [physics]/Earth Sciences/Paleontology[ SDU.STU.PG ] Sciences of the Universe [physics]/Earth Sciences/PaleontologyPaléobiogéographie
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Mechanically-based approach to non-local elasticity: Variational principles

2010

Abstract The mechanically-based approach to non-local elastic continuum, will be captured through variational calculus, based on the assumptions that non-adjacent elements of the solid may exchange central body forces, monotonically decreasing with their interdistance, depending on the relative displacement, and on the volume products. Such a mechanical model is investigated introducing primarily the dual state variables by means of the virtual work principle. The constitutive relations between dual variables are introduced defining a proper, convex, potential energy. It is proved that the solution of the elastic problem corresponds to a global minimum of the potential energy functional. Mo…

Body forceState variableNon-local elasticityNon-local state variablesConstitutive equationEuler–Lagrange equationLong-range interactionNon-local state variableMaterials Science(all)Modelling and SimulationGeneral Materials ScienceVirtual workBoundary value problemMathematicsVariational theoremsMechanical EngineeringApplied MathematicsMathematical analysisCondensed Matter PhysicsPotential energyLong-range interactionsClassical mechanicsMechanics of MaterialsModeling and SimulationNon-local elastic potential energyCalculus of variationsSettore ICAR/08 - Scienza Delle CostruzioniInternational Journal of Solids and Structures
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