Search results for "Cg"

showing 10 items of 999 documents

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

2011

CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli

GeneticsChromosomes Human XComparative Genomic HybridizationMental Disordershuman geneticsBiologyPhenotypeHuman geneticspsychiatric disorderfunctional Xp disomySettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaX Chromosome InactivationChild PreschoolGene duplicationChromosome DuplicationGeneticsMental Retardation X-LinkedHumansarray CGHFemaleChildfunctional Xp disomy; array CGH; psychiatric disorders; human geneticsGenetic Association StudiesSex Chromosome Aberrations
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4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization

2014

Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…

GenotypeArray-CGHDevelopmental DisabilitiesTrisomy 4pChromosome DisordersTrisomyAsian PeopleChinese childrenGene duplicationmedicineHumansWolf–Hirschhorn syndromeOligonucleotide Array Sequence AnalysisGeneticsWolf-Hirschhorn syndromeGenome Humanbusiness.industryChromosomeGeneral Medicinemedicine.diseasePhenotypePenetranceDuplication/deletion 4pPhenotypeChromosome 4Child PreschoolPediatrics Perinatology and Child HealthFemaleNeurology (clinical)Chromosome DeletionChromosomes Human Pair 4HaploinsufficiencybusinessTrisomyEuropean Journal of Paediatric Neurology
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Hyperboloid and Parabolid in Orthogonal Axonometric

2012

This paper presents the issue of a long research on the representation of the complex surface in descriptive geometry. The ability to use the different techniques of representation aims to achieve results that you didn’t image before. In Palermo University, at the Engineering School, the researcher involved the study on the simplify of the so elaborated way to represent the geometry and its applications in architecture buildings and engineering implants. We just report below the application methods to represent two of the most used quadric surfaces in the practice of buildings. We are talking about Hyperboloid and Paraboloid quadric surface represented in axonometric projecting. This method…

Geometry graphics ISGG ICGG hyperboloid paraboloid.Settore ICAR/17 - Disegno
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The Bossons glacier protects Europe's summit from erosion

2013

13 pages; International audience; The contrasting efficiency of erosion beneath cold glacier ice, beneath temperate glacier ice, and on ice-free mountain slopes is one of the key parameters in the development of relief during glacial periods. Detrital geochronology has been applied to the subglacial streams of the north face of the Mont-Blanc massif in order to estimate the efficiency of erosional processes there. Lithologically this area is composed of granite intruded at ~303 Ma within an older polymetamorphic complex. We use macroscopic features (on ~10,000 clasts) and U-Pb dating of zircon (~500 grains) to establish the provenance of the sediment transported by the glacier and its subgl…

Glacier ice accumulation010504 meteorology & atmospheric sciences[SDE.MCG]Environmental Sciences/Global ChangesIce stream[ SDU.STU.GL ] Sciences of the Universe [physics]/Earth Sciences/Glaciology[ SDU.STU.ST ] Sciences of the Universe [physics]/Earth Sciences/Stratigraphy010502 geochemistry & geophysicsglacial erosion01 natural sciencesGlacier mass balance[SDU.STU.GC]Sciences of the Universe [physics]/Earth Sciences/GeochemistryGeochemistry and Petrologydetrital zircon geochronologyGlacial earthquakeEarth and Planetary Sciences (miscellaneous)[SDU.STU.GL]Sciences of the Universe [physics]/Earth Sciences/GlaciologyGeomorphology0105 earth and related environmental sciencesgeographygeography.geographical_feature_categoryGlacier15. Life on land[ SDU.STU.GC ] Sciences of the Universe [physics]/Earth Sciences/GeochemistryGlacier morphology[ SDE.MCG ] Environmental Sciences/Global Changesdenudation rateGeophysics13. Climate actionSpace and Planetary Science[SDU.STU.ST]Sciences of the Universe [physics]/Earth Sciences/StratigraphyIce tongueSubglacial eruptionglacial transportGeologyEarth and Planetary Science Letters
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Comment on "Lethally hot temperatures during the Early Triassic greenhouse".

2013

Sun et al . (Reports, 19 October 2012, p. 366) reconstructed Permian to Middle Triassic equatorial seawater temperatures. After correct temporal positioning of their data points, their presumed trends of temperature changes, and hence their assumption of a one-to-one relationship between putative "lethally hot" seawater temperatures and a disputable equatorial "eclipse" of some organisms, are no longer supported by their data.

Greenhouse Effect010506 paleontologyAquatic OrganismsHot TemperaturePermian[SDE.MCG]Environmental Sciences/Global ChangesEarly TriassicGreenhouse[SDV.BID]Life Sciences [q-bio]/BiodiversityMESH: Hot Temperature10125 Paleontological Institute and MuseumMESH : Aquatic Organisms010502 geochemistry & geophysicsExtinction BiologicalMESH : Greenhouse Effect[ SDU.STU.ST ] Sciences of the Universe [physics]/Earth Sciences/Stratigraphy01 natural sciencesGlobal WarmingAquatic organismsHot TemperatureMESH: Extinction BiologicalPaleontology[SDU.STU.GC]Sciences of the Universe [physics]/Earth Sciences/GeochemistryAnimalsMESH: AnimalsGreenhouse effect0105 earth and related environmental sciences[ SDU.STU.PG ] Sciences of the Universe [physics]/Earth Sciences/Paleontology[ SDV.BID ] Life Sciences [q-bio]/Biodiversity1000 MultidisciplinaryMultidisciplinaryExtinctionMESH : Global WarmingMESH: Global Warming[ SDU.STU.GC ] Sciences of the Universe [physics]/Earth Sciences/Geochemistry[ SDE.MCG ] Environmental Sciences/Global ChangesOceanographyMESH: Greenhouse Effect560 Fossils & prehistoric life13. Climate action[SDU.STU.ST]Sciences of the Universe [physics]/Earth Sciences/StratigraphySeawaterMESH : Extinction BiologicalMESH : AnimalsMESH : Hot Temperature[SDU.STU.PG]Sciences of the Universe [physics]/Earth Sciences/PaleontologyMESH: Aquatic OrganismsGeology
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Quantifying the contribution of nitrification and denitrification to the nitrous oxide flux using 15N tracers.

2006

8 pages; International audience; Microbial transformations of nitrification and denitrification are the main sources of nitrous oxide (N2O) from soils. Relative contributions of both processes to N2O emissions were estimated on an agricultural soil using 15N isotope tracers (15NH4+ or 15NO3-), for a 10-day batch experiment. Under unsaturated and saturated conditions, both processes were significantly involved in N2O production. Under unsaturated conditions, 60% of N-N2O came from nitrification, while denitrification contributed around 85-90% under saturated conditions. Estimated nitrification rates were not significantly different whatever the soil moisture content, whereas the proportion o…

Greenhouse EffectDenitrificationHealth Toxicology and Mutagenesis[SDE.MCG]Environmental Sciences/Global ChangesNitrous OxideToxicologychemistry.chemical_compound[SDU.STU.GC]Sciences of the Universe [physics]/Earth Sciences/Geochemistry[ SDU.ENVI ] Sciences of the Universe [physics]/Continental interfaces environmentSoil Pollutants[SDU.ENVI]Sciences of the Universe [physics]/Continental interfaces environmentFertilizersWater contentBiotransformationHydrologyAir PollutantsMoistureBacteriaNitrogen IsotopesChemistryStable isotope ratioGeneral MedicineNitrous oxideSoil moisture content[ SDU.STU.GC ] Sciences of the Universe [physics]/Earth Sciences/GeochemistryPollutionNitrification[ SDE.MCG ] Environmental Sciences/Global Changes15N tracerEnvironmental chemistryIsotope LabelingSoil waterDenitrificationNitrificationAerationEnvironmental MonitoringEnvironmental pollution (Barking, Essex : 1987)
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Climate change and cyclic predator-prey population dynamics in the high Arctic.

2009

The high Arctic has the world's simplest terrestrial vertebrate predator–prey community, with the collared lemming being the single main prey of four predators, the snowy owl, the Arctic fox, the long-tailed skua, and the stoat. Using a 20-year-long time series of population densities for the five species and a dynamic model that has been previously parameterized for northeast Greenland, we analyzed the population and community level consequences of the ongoing and predicted climate change. Species' responses to climate change are complex, because in addition to the direct effects of climate change, which vary depending on species' life histories, species are also affected indirectly due to…

GreenlandMustela erminea[SDV.EE.IEO] Life Sciences [q-bio]/Ecology environment/SymbiosisAlopex lagopuspredator–prey interaction[SDE.BE] Environmental Sciences/Biodiversity and Ecology[SDE.MCG] Environmental Sciences/Global Changesclimate changeDicrostonyx groenlandicusArctic communityStercorarius longicauduscyclic dynamics[SDV.EE.ECO] Life Sciences [q-bio]/Ecology environment/EcosystemsNyctea scandiaca
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H89 enhances the sensitivity of cancer cells to glyceryl trinitrate through a purinergic receptor-dependent pathway

2014

// Marion Cortier 1, 2, 3 , Rahamata Boina-Ali 1, 2, 3 , Cindy Racoeur 1, 2, 3 , Catherine Paul 1, 2, 3 , Eric Solary 2, 4, 5 , Jean-Francois Jeannin 1, 2, 3 , Ali Bettaieb 1, 2, 3 1 EPHE, Tumor Immunology and Immunotherapy Laboratory, Dijon, F-21000, France 2 Inserm U866, Dijon, F-21000, France 3 EA7269, University of Burgundy, Dijon, F-21000, France 4 Inserm UMR1009, Gustave Roussy Institute, Villejuif F-94805, France 5 University Paris-Sud, Faculty of Medicine, Le Kremlin-Bicetre, F-94800, France Correspondence to: Ali Bettaieb, e-mail: ali.bettaieb@u-bourgogne.fr Keywords: H89, GTN, cancer, purinergic receptors, cGMP Received: October 08, 2014      Accepted: January 09, 2015      Publis…

H89SuraminApoptosisPharmacologyBiologyNitric OxideTransfectionNitric oxideMiceNitroglycerinReceptors Purinergic P2Y1chemistry.chemical_compoundAdenosine TriphosphateCell Line TumorNeoplasmspurinergic receptorsmedicineAnimalsHumanscancerCytotoxic T cellReceptorProtein Kinase InhibitorsMembrane Potential MitochondrialSulfonamidesReceptors Purinergic P2Gene Expression ProfilingPurinergic receptorReceptors PurinergicDrug SynergismOligonucleotides AntisenseIsoquinolinescGMPOncologychemistryApoptosisColonic NeoplasmsCancer cellcardiovascular systemSignal transductionReactive Oxygen SpeciesGTNReceptors Purinergic P2X3circulatory and respiratory physiologySignal TransductionResearch Papermedicine.drugOncotarget
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An Integral on a Complete Metric Measure Space

2015

We study a Henstock-Kurzweil type integral defined on a complete metric measure space \(X\) endowed with a Radon measure \(\mu\) and with a family of “cells” \(\mathcal{F}\) that satisfies the Vitali covering theorem with respect to \(\mu\). This integral encloses, in particular, the classical Henstock-Kurzweil integral on the real line, the dyadic Henstock-Kurzweil integral, the Mawhin’s integral [19], and the \(s\)-HK integral [4]. The main result of this paper is the extension of the usual descriptive characterizations of the Henstock-Kurzweil integral on the real line, in terms of \(ACG^*\) functions (Main Theorem 1) and in terms of variational measures (Main Theorem 2).

HK-integralMeasure (physics)Space (mathematics)26A39Settore MAT/05 - Analisi MatematicaMetric (mathematics)CalculusGeometry and Topology28A12HK-integral ACG4 function critical variationAnalysis\(ACG^\bigtriangleup\) functionMathematicscritical variation
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Occurrence and removal of drugs of abuse in Wastewater Treatment Plants of Valencia (Spain)

2014

The occurrence of 8 drugs of abuse and metabolites in the influent and effluent of the 3 Wastewater Treatment Plants (WWTP) that treat wastewater from Valencia was studied in 2011, 2012 and 2013. Target drugs except 6-monoacetylmorphine (6-ACMOR) were detected in 100% of the influents. The WWTPs eliminate cocaine (COC), amphetamine (AMP), methamphetamine (MAMP) and 11-nor-9-carboxy-Δ9-tetrahydrocannabinol (THC-COOH). Benzoylecgonine (BECG) was also efficiently eliminated (93-98%), whereas 3,4-methylenedioxymethamphetamine (MDMA) presented removal rates of 32-57% and ketamine (KET) was not eliminated. The most consumed illicit drugs, according to the estimated concentrations of each compound…

Health Toxicology and MutagenesisWastewaterToxicologyWaste Disposal FluidHeroinToxicologychemistry.chemical_compoundWater Pollution ChemicalMedicineAmphetamineEffluentIllicit Drugsbusiness.industryMDMAGeneral MedicineMethamphetaminePollutionchemistryWastewaterSpainBenzoylecgoninebusinessRisk assessmentWater Pollutants ChemicalEnvironmental Monitoringmedicine.drugEnvironmental Pollution
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