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3. |
- Sampson, Joshua N., et al.
(author)
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
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In: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Journal article (peer-reviewed)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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5. |
- Estrada, Karol, et al.
(author)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Journal article (peer-reviewed)abstract
- Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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6. |
- Halonen, Niina, et al.
(author)
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Low-temperature growth of multi-walled carbon nanotubes by thermal CVD
- 2011
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In: Physica status solidi. B, Basic research. - Malden : Wiley-Blackwell. - 0370-1972 .- 1521-3951. ; 248:11, s. 2500-2503
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Journal article (peer-reviewed)abstract
- Low-temperature thermal chemical vapor deposition (thermal CVD) synthesis of multi-walled carbon nanotubes (MWCNTs) was studied using a large variety of different precursor compounds. Cyclopentene oxide, tetrahydrofuran, methanol, and xylene: methanol mixture as oxygen containing heteroatomic precursors, while xylene and acetylene as conventional hydrocarbon feedstocks were applied in the experiments. The catalytic activity of Co, Fe, Ni, and their bi-as well as tri-metallic combinations were tested for the reactions. Low-temperature CNT growth occurred at 400 degrees C when using bi-metallic Co-Fe and tri-metallic Ni-Co-Fe catalyst (on alumina) and methanol or acetylene as precursors. In the case of monometallic catalyst nanoparticles, only Co (both on alumina and on silica) was found to be active in the low temperature growth (below 500 degrees C) from oxygenates such as cyclopentene oxide and methanol. The structure and composition of the achieved MWCNTs products were studied by scanning and transmission electron microscopy (SEM and TEM) as well as by Raman and X-ray photoelectron spectroscopy (XPS) and by X-ray diffraction (XRD). The successful MWCNT growth below 500 degrees C is promising from the point of view of integrating MWCNT materials into existing IC fabrication technologies. (C) 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim
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7. |
- Schael, S, et al.
(author)
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Precision electroweak measurements on the Z resonance
- 2006
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In: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454
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Research review (peer-reviewed)abstract
- We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
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8. |
- Wang, Zhaoming, et al.
(author)
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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9. |
- Wu, Ming-Chung, et al.
(author)
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Nitrogen-doped anatase nanofibers decorated with noble metal nanoparticles for photocatalytic production of hydrogen
- 2011
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In: ACS NANO. - : American Chemical Society. - 1936-0851 .- 1936-086X. ; 5:6, s. 5025-5030
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Journal article (peer-reviewed)abstract
- We report the synthesis of N-doped TiO2 nanofibers and high photocatalytic efficiency in generating hydrogen from ethanol-water mixtures under UV-A and UV-B irradiation. Titanate nanofibers synthesized by hydrothermal method are annealed in air and/or ammonia to achieve N-doped anatase fibers. Depending on the synthesis route, either interstitial N atoms or new N-Ti bonds appear in the lattice resulting in slight lattice expansion as shown by XPS and HR-TEM analyses, respectively. These nanofibers were then used as support for Pd and Pt nanoparticles deposited with wet impregnation followed by calcination and reduction. In the hydrogen generation tests the N-doped samples were clearly outperforming their un-doped counterparts showing remarkable efficiency not only under UV-B but also with UV-A illumination. Applying 100 mg catalyst (N-doped TiO2 nanofiber decorated with Pt nanoparticles) in 1 L water-ethanol mixture the H2 evolution rates were as high as 700 μmol/h (UV-A) and 2250 μmol/h (UV-B) corresponding to photo energy percentages of ~3.6% and ~12.3%, respectively.
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10. |
- Wu, Ming-Chung, et al.
(author)
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Photo-Kelvin probe force microscopy for photocatalytic performance characterization of single filament of TiO2 nanofiber photocatalysts
- 2013
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In: Journal of Materials Chemistry A. - : Royal Society of Chemistry (RSC). - 2050-7488 .- 2050-7496. ; 1:18, s. 5715-5720
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Journal article (peer-reviewed)abstract
- This is an in-depth study on the photocatalytic performance characterization for single filament of TiO2 nanofiber photocatalysts by the novel photo-Kelvin probe force microscopy technique (photo-KPFM) and first principles calculations. Three kinds of TiO2 nanofibers: anatase TiO2 nanofibers (anatase TiO2 NFs), nitrogen doped TiO2 nanofibers (N-TiO2 NFs), and nitrogen doped TiO2 nanofibers decorated with platinum nanoparticles (N-TiO2-Pt NFs) were investigated. The N-TiO2-Pt NFs exhibit the largest negative photo surface potential shift (-182 mV) as compared to anatase TiO2 NFs (-29 mV). The first-principles calculations based on density functional theory (CASTEP simulation software) indicate that the significant photo surface potential shift obtained by adding nitrogen and platinum into TiO2 NFs is induced by two mechanisms: (1) enhancement in absorbance to increase exciton generation and (2) decreased charge recombination to increase surface charge. These changes in the photo surface potential of various TiO2 nanofibers are closely correlated with their photocatalytic activity. Thus, this novel photo-KPFM provides a useful technique to easily monitor the photocatalytic capability of materials in the development of high performance photocatalysts.
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11. |
- Wu, Ming-Chung, et al.
(author)
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Photocatalytic activity of nitrogen-doped TiO2-based nanowires : a photo-assisted Kelvin probe force microscopy study
- 2013
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In: Journal of nanoparticle research. - : Springer. - 1388-0764 .- 1572-896X. ; 16:1, s. Article Number: UNSP 2143-
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Journal article (peer-reviewed)abstract
- In this study, a set of nitrogen-doped TiO2-based nanomaterials demonstrating photocatalytic activity was developed by combining the efforts of lattice doping and metal nanoparticle decoration and tested for photo-degradation of methylene blue dye by applying solar simulator irradiation. The surface potential shifts of these TiO2-based photocatalytic nanomaterials measured by Kelvin probe force microscope have been used to study the degree of electron generation of the photocatalysts after irradiation and were well correlated with the photocatalytic activity. The nitrogen-doped TiO2 nanowires decorated with Pt nanoparticles can induce obvious electron accumulation and result in a large shift of surface potential. The analysis shows a clear correlation between the surface potential shift and the photodegradation activity. Furthermore, a thorough comparative photocatalytic activity study combined with X-ray photoelectron spectroscopy analysis of the materials-doped with nitrogen under various conditions-reveals that the photocatalytic efficiency of the catalysts is maintained even if the lattice doping is leached e.g., by thermal treatments after doping. By monitoring the surface potential shifts of various TiO2-based photocatalysts by photo-assisted Kelvin probe force microscopy, we obtain a useful tool for developing novel materials with high photocatalytic activity.
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12. |
- Abdallah, J, et al.
(author)
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A measurement of the branching fractions of the b-quark into charged and neutral b-hadrons
- 2003
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 576:1-2, s. 29-42
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Journal article (peer-reviewed)abstract
- The production fractions of charged and neutral b-hadrons in b-quark events from Z(0) decays have been measured with the DELPHI detector at LEP. An algorithm has been developed, based on a neural network, to estimate the charge of the weakly-decaying b-hadron by distinguishing its decay products from particles produced at the primary vertex. From the data taken in the years 1994 and 1995, the fraction of (b) over bar -quarks fragmenting into positively charged weakly-decaying b-hadrons has been measured to be: f(+) = (42.09+/-0.82(stat)+/-0.89(syst))%. Subtracting the rates for charged Xi(b)(+) and Omega(b)(+) baryons gives the production fraction of B+ mesons: f(Bu) = (40.99+/-0.82(stat)+/-1.11 (syst)) %.
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13. |
- Abdallah, J, et al.
(author)
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A study of the energy evolution of event shape distributions and their means with the DELPHI detector at LEP
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 29:3, s. 285-312
-
Journal article (peer-reviewed)abstract
- Infrared and collinear safe event shape distributions and their mean values are determined in e(+)e(-) collisions at centre-of-mass energies between 45 and 202GeV. A phenomenological analysis based on power correction models including hadron mass effects for both differential distributions and mean values is presented. Using power corrections, alpha(s) is extracted from the mean values and shapes. In an alternative approach, renormalisation group invariance (RGI) is used as an explicit constraint, leading to a consistent description of mean values without the need for sizeable power corrections. The QCD beta-function is precisely measured using this approach. From the DELPHI data on Thrust, including data from low energy experiments, one finds beta(0) = 7.86 +/- 0.32 for the one loop coefficient of the beta-function or, assuming QCD, n(f) = 4.75 +/- 0.44 for the number of active flavours. These values agree well with the QCD expectation of beta(0) = 7.67 and n(f) 5. A direct measurement of the full logarithmic energy slope excludes light gluinos with a mass below 5GeV.
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14. |
- Abdallah, J, et al.
(author)
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Charged particle multiplicity in three-jet events and two-gluon systems
- 2005
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; C:44, s. 311-331
-
Journal article (peer-reviewed)abstract
- The charged particle multiplicity in hadronic three-jet events from Z decays is investigated. The topology dependence of the event multiplicity is found to be well described by a modified leading logarithmic prediction. A parameter fit of the prediction to the data yields a measurement of the colour factor ratio C-A/C-F with the result C-A/C-F = 2.261 +/- 0.014(stat). +/- 0.036(exp). +/- 0-066(theo). in agreement with the SU(3) expectation of QCD. The quark-related contribution to the event multiplicity is subtracted from the three-jet event multiplicity resulting in a measurement of the multiplicity of two-gluon colour-singlet states over a wide energy range. The ratios r = N-gg(s)/Ng (g) over bar (s) of the gluon and quark multiplicities and r((1)) = N'(gg)(s)/N'g (g) over bar (s) of their derivatives are compared with perturbative calculations. While a good agreement between calculations and data is observed for r((1)), larger deviations are found for r indicating that non-perturbative effects are more important for r than for r((1)).
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15. |
- Abdallah, J, et al.
(author)
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Coherent soft particle production in Z decays into three jets
- 2005
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 605:1-2, s. 37-48
-
Journal article (peer-reviewed)abstract
- Low-energy particle production perpendicular to the event plane in three-jet events produced in Z decays in e(+)e(-) annihilation is measured and compared to that perpendicular to the event axis in two-jet events. The topology dependence of the hadron production ratio is found to agree with a leading-order QCD prediction. This agreement and especially the need for the presence of a destructive interference term gives evidence for the coherent nature of gluon radiation. Hadron production in three-jet events is found to be directly proportional to a single topological scale function of the inter-jet angles. The slope of the dependence of the multiplicity with respect to the topological scale was measured to be 2.211 +/- 0.014(stat.) +/- 0.053(syst.) in good agreement with the expectation given by the colour-factor ratio C-A/C-F = 9/4. This result strongly supports the assumption of local parton-hadron duality, LPHD, at low hadron momentum.
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16. |
- Abdallah, J, et al.
(author)
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Determination of A(FB)(b) at the Z pole using inclusive charge reconstruction and lifetime tagging
- 2005
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 40:1, s. 1-25
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Journal article (peer-reviewed)abstract
- A novel high precision method measures the b-quark forward-backward asymmetry at the Z pole on a sample of 3,560,890 hadronic events collected with the DELPHI detector in 1992 to 2000. An enhanced impact parameter tag provides a high purity b sample. For event hemispheres with a reconstructed secondary vertex the charge of the corresponding quark or anti-quark is determined using a neural network which combines in an optimal way the full available charge information from the vertex charge, the jet charge and from identified leptons and hadrons. The probability of correctly identifying b-quarks and anti-quarks is measured on the data themselves comparing the rates of double hemisphere tagged like-sign and unlike-sign events. The b-quark forward-backward asymmetry is determined from the differential asymmetry, taking small corrections due to hemisphere correlations and background contributions into account. The results for different centre-of-mass energies are: A(FB)(b) ( 89.449 GeV) = 0.0637 +/- 0.0143( stat.) +/- 0.0017( syst.), A(FB)(b) ( 91.231 GeV) = 0.0958 +/- 0.0032( stat.) +/- 0.0014( syst.), A(FB)(b) ( 92.990 GeV) = 0.1041 +/- 0.0115( stat.) +/- 0.0024( syst.). Combining these results yields the b-quark pole asymmetry A(FB)(b0) = 0.0972 +/- 0.0030( stat.) +/- 0.0014( syst.).
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17. |
- Abdallah, J, et al.
(author)
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Final results from DELPHI on the searches for SM and MSSM neutral Higgs bosons
- 2004
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 32:2, s. 145-183
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Journal article (peer-reviewed)abstract
- These final results from DELPHI searches for the Standard Model (SM) Higgs boson, together with benchmark scans of the Minimal Supersymmetric Standard Model (MSSM) neutral Higgs bosons, used data taken at centre-of-mass energies between 200 and 209 GeV with a total integrated luminosity of 224 pb(-1). The data from 192 to 202 GeV are reanalysed with improved b-tagging for MSSM final states decaying to four b-quarks. The 95% confidence level lower mass bound on the Standard Model Higgs boson is 114.1 GeV/c(2). Limits are also given on the lightest scalar and pseudo-scalar Higgs bosons of the MSSM.
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18. |
- Abdallah, J, et al.
(author)
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Inclusive b decays to wrong sign charmed mesons
- 2003
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 561:1-2, s. 26-40
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Journal article (peer-reviewed)abstract
- The production of wrong sign charmed mesons b --> (D) over bar X-(s), D-(s) = (D-0, D+, D-s), is studied using the data collected by the DELPHI experiment in the years 1994 and 1995. Charmed mesons in Z --> b (b) over bar events are exclusively reconstructed by searching for the decays D-0 --> K(-)pi(+), D+ --> K(-)pi(+)pi(+) and D-s(+) --> phipi(+) --> K(+)K(-)pi(+). The wrong sign contribution is extracted by using two discriminant variables: the charge of the b-quark at decay time, estimated from the charges of identified particles, and the momentum of the charmed meson in the rest frame of the b-hadron. The inclusive branching fractions of b-hadrons into wrong sign charm mesons are measured to be: B(b --> (D) over bar X-0) + B(b --> D-X) = (9.3 +/- 1.7(stat) +/- 1.3(syst) +/- 0.4(B))%, B(b --> Ds-X) = (10.1 +/- 1.0(stat) +/- 0.6(syst) +/- 2.8(B))% where the first error is statistical, the second and third errors are systematic. (C) 2003 Published by Elsevier Science B.V.
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19. |
- Abdallah, J, et al.
(author)
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Measurement of inclusive f(1) (1285) and f(1) (1420) production in Z decays with the DELPHI detector
- 2003
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 569:3-4, s. 129-139
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Journal article (peer-reviewed)abstract
- DELPHI results are presented on the inclusive production of two (K(K) over bar π)(0) states in the mass region 1.2-1.6 GeV/c(2) in hadronic Z decays at LEP I. The measured masses (widths) are 1274 +/- 6 MeV/c(2) (29 +/- 12 MeV/c(2)) and 1426 +/- 6 MeV/c(2) (51 +/- 14 MeV/c(2)), respectively. A partial-wave analysis of the (K(K) over bar π)(0) system shows that the first peak is consistent with the I-G (J(PC)) = 0(+)(1(++))/(0(-+))a(0)(980)pi and the second with the I-G (J(PC)) = 0(+)(1(++))K*(892)(K) over bar + c.c. assignments. The total hadronic production rates per hadronic Z decay are (0.165 +/- 0.051) and (0.056 +/- 0.012), respectively. These measurements are consistent with the two states being the f(1) (1285) and f(1) (1420) mesons. (C) 2003 Published by Elsevier B.V.
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20. |
- Abdallah, J, et al.
(author)
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Measurement of the e(+)e(-)-> W+W- gamma cross-section and limits on anomalous quartic gauge couplings with DELPHI
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 31:2, s. 139-147
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Journal article (peer-reviewed)abstract
- W(+)W(-)gamma production at LEP2 is studied using data collected with the DELPHI detector at centre-of-mass energies between 189 GeV and 209 GeV, corresponding to an integrated luminosity of about 600 pb(-1). Cross-sections are measured for the production of W+W- with a hard, central and isolated photon in the final state, and are found to be compatible with the Standard Model prediction. The photon energy spectra are used to derive limits on anomalous contributions to the W(+)W(-)Z(o)gamma and W(+)W(-)gammagamma vertices.
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21. |
- Abdallah, J, et al.
(author)
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Measurement of the Lambda(0)(b) decay form factor
- 2004
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 585:1-2, s. 63-84
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Journal article (peer-reviewed)abstract
- The form factor of A(o)(b) baryons is estimated using 3.46 x 10(6) hadronic Z decays collected by the DELPM experiment between 1992 and 1995. Charmed A(c)(+) baryons fully reconstructed in the pK(-)pi(+), pK(o)(s), and Api(+)pi(+)pi(-) modes, are associated to a c S lepton with opposite charge in order to select A(o)(b) --> A(c)(+)l(-)v(l) decays. From a combined likelihood and event rate fit to the b C distribution of the Isgur-Wise variable w, and using the Heavy Quark Effective Theory (HQET), the slope of the b-baryon form factor is measured to be p(2)=2.03+/-0.46(stat)(-1.00)(+0.72)(syst). The exclusive semileptonic branching fraction Br(A(b)(o) --> A(c)(+)l(-)v(l)) can be derived from p(2) and is found to be (5.0(-0.8)(+1.1)(stat)(-1.2)(+1.6) (syst))%. Limits on other branching fractions are also obtained. (C) 2004 Published by Elsevier B.V.
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22. |
- Abdallah, J, et al.
(author)
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Production of Xi(0)(c) and Xi(b) in Z decays and lifetime measurement of Xi(b)
- 2005
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; C:44, s. 299-309
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Journal article (peer-reviewed)abstract
- The charmed strange baryon Xi(c)(0) was searched for in the decay channel Xi(c)(0) -> Xi(-)pi(+), and the beauty strange baryon Xi(b) in the inclusive channel Xi(b) -> Xi(-)l(-)(nu) over barX, using the 3.5 million hadronic Z events collected by the DELPHI experiment in the years 1992-1995. The Xi(-) was reconstructed through the decay AT, using a constrained fit method for cascade decays. An iterative discriminant analysis was used for the Xi(c)(0) and Xi(b) selection. The production rates were measured to be f(Xi c)(0) x BR(Xi(c)(0) -> Xi(-)pi(+) = (4.7 +/- 1.4(stat.) +/- 1.1(syst.)) x 10(-4) per hadronic Z decay, and BR(b -> Xi(b))xBR(Xi(b) -> Xi(-)l(-)X) = (3.0 +/- 1.0(stat.) +/- 0.3(syst.)) x 10(-4) for each lepton species (electron or muon). The lifetime of the Xi(b) baryon was measured to be tau(Xi b) = 1.45(-0.43)(+0.55)(stat.)+/- 0.13(syst.) ps. A combination with the previous DELPHI lifetime measurement gives tau(Xi b) = 1.48(-0.31)(+0.40)(stat.)+/- 0.12(syst.) ps.
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23. |
- Abdallah, J, et al.
(author)
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Rapidity-alignment and p(T) compensation of particle pairs in hadronic Z(0) decays
- 2002
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 533:3-4, s. 243-252
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Journal article (peer-reviewed)abstract
- Observation is made of rapidity-alignment of K+K- and (p) over barp pairs which results from their asymmetric orientation in rapidity, with respect to the direction from primary quark to antiquark. The K+K- and (p) over barp data are consistent with predictions from the fragmentation string model. However, the (p) over barp data strongly disagree with the conventional implementation of the cluster model. The non-perturbative process of 'gluon splitting to diquarks' has to be incorporated into the cluster model for it to agree with the data. Local conservation of PT between particles nearby in rapidity (i.e., p(T) compensation) is analysed with respect to the thrust direction for pi(+)pi(-), K+K-, and (p) over barp pairs. In this case, the string model provides fair agreement with the data. The cluster model is incompatible with the data for all three particle pairs. The model with its central premiss of isotropically-decaying clusters predicts a p(T) correlation not seen in the data. (C) 2002 Elsevier Science B.V. All rights reserved.
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24. |
- Abdallah, J, et al.
(author)
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Search for an LSP gluino at LEP with the DELPHI detector
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 26:4, s. 505-525
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Journal article (peer-reviewed)abstract
- In some supersymmetric models, the gluino ((g) over tilde) is predicted to be light and stable. In that case, it would hadronize to form R-hadrons. In these models, the missing energy signature of the lightest supersymmetric particle is no longer valid, even if R-parity is conserved. Therefore, such a gluino is not constrained by hadron collider results, which looked for the decay (g) over tilde --> q (q) over bar(χ) over tilde (0)(1). Data collected by the DELPHI detector in 1994 at 91.2 GeV have been analysed to search for q (q) over bar(gg) over tilde events. No deviation from Standard Model predictions is observed and a gluino mass between 2 and 18 GeV/c(2) is excluded at the 95% confidence level in these models. Then, R-hadrons produced in the squark decays were searched for in the data collected by DELPHI at the centre-of-mass energies of 189 to 208 GeV, corresponding to an overall integrated luminosity of 609 pb(-1). The observed number of events is in agreement with the Standard Model predictions. Limits at 95% confidence level are derived on the squark masses from the excluded regions in the plane (m((q) over tilde1),m((g) over bar)): m((t) over tilde1) > 90 GeV/c(2) and m((b) over tilde1) > 96 GeV/c(2) for purely left squarks. m((t) over tilde1) > 87 GeV/c(2) and m((b) over tilde1) > 82 GeV/c(2) independent of the mixing angle.
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25. |
- Abdallah, J, et al.
(author)
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Search for B-s(0)-(B-s(0))over-bar oscillations and a measurement of B-d(0)-(B-d(0))over-bar oscillations using events with an inclusively reconstructed vertex
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 28:2, s. 155-173
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Journal article (peer-reviewed)abstract
- Neutral B meson oscillations in the B-s(0) - <(B-s(0))over bar>, and B-d(0) - <(B-d(0))over bar> systems were studied using a sample of about 4.0 million hadronic Z decays recorded by the DELPHI detector between 1992 and 2000. Events with a high transverse momentum lepton were removed and a sample of 770 k events with an inclusively reconstructed vertex was selected. The mass difference between the two physical states in the B-d(0) - <(B-d(0))over bar>system was measured to be: Deltam(d) = (0.531 +/- 0.025(stat.) +/- 0.007(syst.))ps(-1). The following limit on the width difference of these states was also obtained: DeltaGamma(Bd)/Gamma(Bd) < 0.18 at 95% CL. As no evidence for B-s(0) -<(B-s(0))over bar> oscillations was found, a limit on the mass difference of the two physical states was given:, Deltam(s) > 5.0 ps(-1) at 95% CL. The corresponding sensitivity of this analysis is equal to 6.6 ps(-1).
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26. |
- Abdallah, J, et al.
(author)
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Search for charged Higgs bosons in e(+)e(-) collisions root s=189-202 GeV
- 2002
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 525:1-2, s. 17-28
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Journal article (peer-reviewed)abstract
- A search for pair-produced charged Higgs bosons was performed in the high energy data collected by the DELPHI detector at LEP II at centre-of-mass energies from 189 GeV to 202 GeV. The three different final states, taunutaunu, c (s) over bar(c) over bars and c (s) over bar taunu were considered. New methods were applied to reject wrong hadronic jet pairings and for the tau identification, where a discriminator based on tau polarisation and polar angles was used. No excess of data compared to the expected Standard Model processes was observed and the existence of a charged Higgs boson with mass lower than 71.5 GeV/c(2) is excluded at the 95% confidence level. (C) 2002 Published by Elsevier Science B.V.
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27. |
- Abdallah, J, et al.
(author)
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Search for doubly charged Higgs bosons at LEP2
- 2003
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 552:3-4, s. 127-137
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Journal article (peer-reviewed)abstract
- A search for pair-produced doubly charged Higgs bosons has been performed using the data collected by the DELPHI detector at LEP at centre-of-mass energies between 189 and 209 GeV. No excess is observed in the data with respect to the Standard Model background. A lower limit for the mass of 97.3 GeV/c(2) at the 95% confidence level has been set for doubly charged Higgs bosons in left-right symmetric models for any value of the Yukawa coupling between the Higgs bosons and the tau leptons. (C) 2002 Published by Elsevier Science B.V.
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28. |
- Abdallah, J, et al.
(author)
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Search for eta(b) in two-photon collisions at LEP II with the DELPHI detector
- 2006
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 634:4, s. 340-346
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Journal article (peer-reviewed)abstract
- The pseudoscalar meson eta(b) has been searched for in two-photon interactions at LEP II. The data sample corresponds to a total integrated luminosity of 617 pb(-1) at centre-of-mass energies ranging from 161 to 209 GeV. Upper limits at a confidence level of 95% on the product Gamma(gamma gamma) (eta(b)) x BR(eta(b)) are 190, 470 and 660 eV/c(2) for the eta(b) decaying into 4, 6 and 8 charged particles, respectively.
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29. |
- Abdallah, J, et al.
(author)
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Search for resonant (nu)over-tilde production at root s=183 to 208 GeV
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 28:1, s. 15-26
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Journal article (peer-reviewed)abstract
- Searches for resonant (ν) over tilde production in e(+)e(-) collisions under the assumption that R-parity is not conserved and that the dominant R-parity violating coupling is lambda(121) or lambda(131) used data recorded by DELPHI in 1997 to 2000 at centre-of-mass energies of 183 to 208 GeV. No deviation from the Standard Model was observed. Upper limits are given for the lambda(121) and lambda(131) couplings as a function of the sneutrino mass and total width. The limits are especially stringent for sneutrino masses equal to the centre-of-mass energies with the highest integrated luminosities recorded.
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30. |
- Abdallah, J, et al.
(author)
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Search for single top production via FCNC at LEP at root s=189-208 GeV
- 2004
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 590:1-2, s. 21-34
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Journal article (peer-reviewed)abstract
- A search for single top production (e(+)e(-) --> t (c) over bar) via flavour changing neutral currents (FCNC) was performed using the data taken by the DELPHI detector at LEP2. The data analyzed have been accumulated at center-of-mass energies ranging from 189 to 208 GeV. Limits at 95% confidence level were obtained on the anomalous coupling parameters kappa(gamma) and kappa(Z). (C) 2004 Published by Elsevier B.V.
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31. |
- Abdallah, J, et al.
(author)
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Search for supersymmetric particles in light gravitino scenarios and sleptons NLSP
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 27:2, s. 153-172
-
Journal article (peer-reviewed)abstract
- A search for sleptons, neutralinos, charginos, sgoldstinos and heavy stable charged sleptons in the context of scenarios where the lightest supersymmetric particle is the gravitino, is presented. Data collected during 2000 with the DELPHI detector at centre-of-mass energies from 204 to 208 GeV were analysed and combined with all the data collected from 1995 to 1999 at lower energies. No evidence for the production of sleptons, neutralinos and charginos has been found, therefore new limits on the mass of these supersymmetric particles and on the model parameter space are set. The search for heavy stable charged sleptons also updates the stable sleptons mass limit. The absence of evidence for sgoldstino production allows limits to be set on its mass and on the scale of supersymmetry breaking.
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32. |
- Abdallah, J, et al.
(author)
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Searches for invisibly decaying Higgs bosonswith the DELPHI detector at LEP
- 2004
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 32:4, s. 475-492
-
Journal article (peer-reviewed)abstract
- Searches for HZ production with the Higgs boson decaying into an invisible final state were performed using the data collected by the DELPHI experiment at centre-of-mass energies between 188 GeV and 209 GeV. Both hadronic and leptonic final states of the Z boson were analysed. In addition to the search for a heavy Higgs boson, a dedicated search for a light Higgs boson down to 40 GeV/c(2) was performed. No signal was found. Assuming the Standard Model HZ production cross-section, the mass limit for invisibly decaying Higgs bosons is 112.1 GeV/c(2) at 95% confidence level. An interpretation in the Minimal Supersymmetric extension of the Standard Model (MSSM) and in a Majoron model is also given.
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33. |
- Abdallah, J, et al.
(author)
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Searches for neutral Higgs bosons in e(+)e(-), collisions from root s=191.6 to 201.7 GeV
- 2002
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 23:3, s. 409-435
-
Journal article (peer-reviewed)abstract
- Neutral Higgs bosons of the Standard Model (SM) and the Minimal Supersymmetric Standard Model (MSSM) were searched for in the data collected in 1999 by the DELPHI experiment at centre-of-mass energies between 191.6 and 201.7 GeV with a total integrated luminosity of 228 pb(-1). These analyses, in combination with our results at lower energies, set 95% confidence level lower mass bounds on the Standard Model Higgs boson (107.3 GeV/c(2)) and on the lightest neutral scalar (85.9 GeV/c(2)) and neutral pseudoscalar (86.5 GeV/c(2)) Higgs bosons in representative scans of the MSSM parameter space. An extended scan of the MSSM parameter space was also performed to test the robustness of these limits.
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34. |
- Abdallah, J, et al.
(author)
-
Searches for neutral Higgs bosons in extended models
- 2004
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 38:1, s. 1-28
-
Journal article (peer-reviewed)abstract
- Searches for neutral Higgs bosons produced at LEP in association with Z bosons, in pairs and in the Yukawa process are presented in this paper. Higgs boson decays into b quarks, tau leptons, or other Higgs bosons are considered, giving rise to four-b, four-b+jets, six-b and four-tau final states, as well as mixed modes with b quarks and tau leptons. The whole mass domain kinematically accessible at LEP in these topologies is searched. The analysed data set covers both the LEP1 and LEP2 energy ranges and exploits most of the luminosity recorded by the DELPHI experiment. No convincing evidence for a signal is found, and results are presented in the form of mass-dependent upper bounds on coupling factors (in units of model-independent reference cross-sections) for all processes, allowing interpretation of the data in a large class of models.
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35. |
- Abdallah, J, et al.
(author)
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Searches for supersymmetric particles in e(+)e(-) collisions up to 208 GeV and interpretation of the results within the MSSM
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 31:4, s. 421-479
-
Journal article (peer-reviewed)abstract
- DELPHI data collected at centre-of-mass energies up to 208 GeV have been analysed to search for charginos, neutralinos and sfermions in the framework of the Minimal Supersymmetric Standard Model (MSSM) with R-parity conservation. No evidence for a signal was found in any of the channels. The results of each search were used to derive limits on production cross-sections and particle masses. In addition, the combined result of all searches excludes regions in the parameter space of the constrained MSSM, leading to limits on the mass of the Lightest Supersymmetric Particle and other supersymmetric particles.
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36. |
- Abdallah, J, et al.
(author)
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The eta(c)(2980) formation in two-photon collisions at LEP energies
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 31:4, s. 481-489
-
Journal article (peer-reviewed)abstract
- eta(c)(2980) production in gammagamma interactions has been detected via its decays into K(s)(0)K(-/+)pi(-/+), K+K-K+K- and K(+)K(-)pi(+)pi(-) in the data taken with the DELPHI detector at LEP1 and LEP2 energies. The two-photon radiative width averaged over all observed decay channels is Gammagammagamma=13.9+/-2.0(stat.)+/-1.4(syst.)+/-2.7 (BR) keV. No direct decay channel eta(c)-->pi(+)pi(-)pi(+)pi(-) has been observed. An upper limit Gamma(gammagamma)<5.5 keV at 95% confidence level has been evaluated for this decay mode.
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37. |
- Abdallah, J, et al.
(author)
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ZZ production in e(+) e(-) interactions at root s=183-209 GeV
- 2003
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 30:4, s. 447-466
-
Journal article (peer-reviewed)abstract
- Measurements of on-shell ZZ production are described, using data from the DELPHI experiment at LEP in e(+)e(-) collisions at centre-of-mass energies between 183 and 209 GeV, corresponding to an integrated luminosity of about 665 pb(-1). Results obtained in each of the final states q (q) over barq (q) over bar, nu(ν) over barq (q) over bar, mu(+)mu(-) q (q) over bar, e(+)e(-) r(+)r(-) q (q) over bar, l(+)l(-)l(+)l(-), and nu(ν) over barl(+)l(-) (with l = e, mu) are presented. The measured production cross-sections are consistent with the Standard Model expectations. These results update and supersede those already published at 183 and 189 GeV.
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38. |
- Abelev, B., et al.
(author)
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Measurement of the inclusive differential jet cross section in pp collisions at root s=2.76 TeV
- 2013
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 722:4-5, s. 262-272
-
Journal article (peer-reviewed)abstract
- The ALICE Collaboration at the CERN Large Hadron Collider reports the first measurement of the inclusive differential jet cross section at mid-rapidity in pp collisions at root s = 2.76 TeV, with integrated luminosity of 13.6 nb(-1). Jets are measured over the transverse momentum range 20 to 125 GeV/c and are corrected to the particle level. Calculations based on Next-to-Leading Order perturbative QCD are in good agreement with the measurements. The ratio of inclusive jet cross sections for jet radii R = 0.2 and R = 0.4 is reported, and is also well reproduced by a Next-to-Leading Order perturbative QCD calculation when hadronization effects are included. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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39. |
- Abreu, P, et al.
(author)
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b-tagging in DELPHI at LEP
- 2004
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 32:2, s. 185-208
-
Journal article (peer-reviewed)abstract
- The standard method used for tagging b-hadrons in the DELPHI experiment at the CERN LEP Collider is discussed in detail. The main ingredient of b-tagging is the impact parameters of tracks, which relies mostly on the vertex detector. Additional information, such as the mass of particles associated to a secondary vertex, significantly improves the selection efficiency and the background suppression. The paper describes various discriminating variables used for the tagging and the procedure of their combination. In addition, applications of b-tagging to some physics analyses, which depend crucially on the performance and reliability of b-tagging, are described briefly.
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40. |
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41. |
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42. |
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43. |
- Ahorsu, Daniel K., et al.
(author)
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A prospective study on the link between weight-related self-stigma and binge eating : Role of food addiction and psychological distress
- 2020
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In: International Journal of Eating Disorders. - : John Wiley & Sons. - 0276-3478 .- 1098-108X. ; 53:3, s. 442-450
-
Journal article (peer-reviewed)abstract
- OBJECTIVES: This prospective study investigated the link between weight-related self-stigma and binge eating by (a) examining the temporal association between weight-related self-stigma and binge eating; (b) investigating the mediating role of food addiction in the association between weight-related self-stigma and binge eating; and (c) examining the mediating role of psychological distress in the association between weight-related self-stigma and binge eating.METHOD: Participants comprised 1,497 adolescents (mean = 15.1 years; SD = 6.0). Body mass index and weight bias were assessed at baseline; psychological distress (i.e., depression, anxiety, and stress) assessed and food addiction at 3 months; and binge eating at 6 months. The mediation model was analyzed using Model 4 in the PROCESS macro for SPSS with 10,000 bootstrapping resamples.RESULTS: There was no significant direct association between weight-related self-stigma and binge eating. However, food addiction and psychological distress significantly mediated the association between weight-related self-stigma and binge eating.DISCUSSION: These findings highlight the indirect association between weight-related self-stigma and binge eating via food addiction and psychological distress. Consequently, intervention programs targeting food addiction and psychological distress among adolescents may have significant positive effects on outcomes for weight-related self-stigma and binge eating. The findings will be beneficial to researchers and healthcare professionals working with adolescents during this critical developmental period.
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44. |
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45. |
- Chang, Ching-Wen, et al.
(author)
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Problematic smartphone use and two types of problematic use of the internet and self-stigma among people with substance use disorders
- 2023
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In: Addictive Behaviours. - : Elsevier. - 0306-4603 .- 1873-6327. ; 147
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Journal article (peer-reviewed)abstract
- BACKGROUND AND AIMS: Guided by the Interaction of Person-Affect-Cognition-Execution (I-PACE) model and a self-stigma framework, this study aimed to investigate relationships between cognitive and affective self-stigma and behavioral self-stigma, problematic use of internet (PUI), and problematic smartphone use (PSU) among people with substance use disorders (SUDs). It also examined mediating roles for affective self-stigma in the relationships between cognitive self-stigma and behavioral self-stigma/PUI/PSU.METHODS: Using a cross-sectional design, 530 participants diagnosed with SUDs in Taiwan were recruited from a psychiatric center in Taiwan. Mediation models were investigated using the Hayes' Process Macro Model 4.RESULTS: Mediation analyses indicated that cognitive self-stigma was directly associated with behavioral self-stigma (p < 0.001), but not with either types of PUI or PSU (p-values ranging from 0.41 to 0.76). Affective self-stigma was directly related to behavioral self-stigma (p < 0.001), two types of PUI, and PSU (β = 0.24-0.30; all p < 0.001); cognitive self-stigma was indirectly associated with behavioral self-stigma (β = 0.53; 95 % bootstrapping CI = 0.46, 0.60), two types of PUI, and PSU (β = 0.20-0.25; 95 % bootstrapping CI = 0.08-0.14, 0.31-0.37) via a mediating effect of affective self-stigma.DISCUSSION AND CONCLUSION: Findings support the I-PACE model in a self-stigma context. The findings also suggest that addressing affective self-stigma may help prevent or reduce behavioral self-stigma, PUI, and PSU among people with SUDs. Longitudinal studies are warranted to investigate over time relationships between self-stigma and PUI/PSU in people with SUDs.
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46. |
- Cheng, Wan-Lin, et al.
(author)
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Quality of life and care burden among family caregivers of people with severe mental illness : mediating effects of self-esteem and psychological distress
- 2022
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In: BMC Psychiatry. - : BioMed Central (BMC). - 1471-244X. ; 22:1
-
Journal article (peer-reviewed)abstract
- Background Family caregivers are important allies for healthcare providers in facilitating the recovery process among people with mental illness (PWMI). The present study examined the factors associated with quality of life (QoL) among family caregivers of PWMI. Methods A multi-center cross-sectional survey was conducted. Family caregivers of people with schizophrenia, major depressive disorder, and bipolar disorder were recruited using convenience sampling. A survey assessing their QoL, depression, anxiety, and self-esteem was completed with self-rated psychometric scales including the Rosenberg Self-Esteem Scale, Caregiver Burden Inventory, Taiwanese Depression Questionnaire, Beck Anxiety Inventory, and World Health Organization Quality of Life Instrument Short Form. A mediation model was constructed with QoL as the dependent variable, care burden as the independent variable, and psychological distress (including depression and anxiety) with self-esteem as mediating variables. Results Family caregivers of people with schizophrenia had worse QoL compared with counterparts of people with major depression and bipolar disorder. The sociodemographic of both caregivers and PWMI had less impact on QoL when psychological factors were considered. Caregivers with lower self-esteem, higher levels of psychological distress, and heavier care burdens had poorer QoL. Care burden had a significant total effect on QoL. Both self-esteem and psychological distress were significant mediators. Conclusion The findings indicated that caregivers' psychological health and care burden influenced their QoL. Interventions that target family caregivers' self-esteem and psychological distress may attenuate the effect from care burden, and further improve their QoL.
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47. |
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48. |
- Docherty, Anna R, et al.
(author)
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GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
- 2023
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In: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
-
Journal article (peer-reviewed)abstract
- Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
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49. |
- Ercan, Ayse Bahar, et al.
(author)
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Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
- 2024
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In: The Lancet Oncology. - 1470-2045. ; 25:5, s. 668-682
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Journal article (peer-reviewed)abstract
- Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries. Clinical data were extracted from the IRRDC database, medical records, and physician-completed case record forms. The primary objective was to describe the clinical features, cancer spectrum, and biology of the condition. Secondary objectives included estimations of cancer incidence and of the impact of the specific mismatch-repair gene and genotype on cancer onset and survival, including after cancer surveillance and immunotherapy interventions.We analysed data from 201 patients (103 males, 98 females) enrolled between June 5, 2007 and Sept 9, 2022. Median age at diagnosis of CMMRD or a related cancer was 8·9 years (IQR 5·9-12·6), and median follow-up from diagnosis was 7·2 years (3·6-14·8). Endogamy among minorities and closed communities contributed to high homozygosity within countries with low consanguinity. Frequent dermatological manifestations (117 [93%] of 126 patients with complete data) led to a clinical overlap with neurofibromatosis type 1 (35 [28%] of 126). 339 cancers were reported in 194 (97%) of 201 patients. The cumulative cancer incidence by age 18 years was 90% (95% CI 80-99). Median time between cancer diagnoses for patients with more than one cancer was 1·9 years (IQR 0·8-3·9). Neoplasms developed in 15 organs and included early-onset adult cancers. CNS tumours were the most frequent (173 [51%] cancers), followed by gastrointestinal (75 [22%]), haematological (61 [18%]), and other cancer types (30 [9%]). Patients with CNS tumours had the poorest overall survival rates (39% [95% CI 30-52] at 10 years from diagnosis; log-rank p<0·0001 across four cancer types), followed by those with haematological cancers (67% [55-82]), gastrointestinal cancers (89% [81-97]), and other solid tumours (96% [88-100]). All cancers showed high mutation and microsatellite indel burdens, and pathognomonic mutational signatures. MLH1 or MSH2 variants caused earlier cancer onset than PMS2 or MSH6 variants, and inferior survival (overall survival at age 15 years 63% [95% CI 55-73] for PMS2, 49% [35-68] for MSH6, 19% [6-66] for MLH1, and 0% for MSH2; p<0·0001). Frameshift or truncating variants within the same gene caused earlier cancers and inferior outcomes compared with missense variants (p<0·0001). The greater deleterious effects of MLH1 and MSH2 variants as compared with PMS2 and MSH6 variants persisted despite overall improvements in survival after surveillance or immune checkpoint inhibitor interventions.The very high cancer burden and unique genomic landscape of CMMRD highlight the benefit of comprehensive assays in timely diagnosis and precision approaches toward surveillance and immunotherapy. These data will guide the clinical management of children and patients who survive into adulthood with CMMRD.The Canadian Institutes for Health Research, Stand Up to Cancer, Children's Oncology Group National Cancer Institute Community Oncology Research Program, Canadian Cancer Society, Brain Canada, The V Foundation for Cancer Research, BioCanRx, Harry and Agnieszka Hall, Meagan's Walk, BRAINchild Canada, The LivWise Foundation, St Baldrick Foundation, Hold'em for Life, and Garron Family Cancer Center.
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50. |
- Fenstermacher, M.E., et al.
(author)
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DIII-D research advancing the physics basis for optimizing the tokamak approach to fusion energy
- 2022
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In: Nuclear Fusion. - : IOP Publishing. - 0029-5515 .- 1741-4326. ; 62:4
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Journal article (peer-reviewed)abstract
- DIII-D physics research addresses critical challenges for the operation of ITER and the next generation of fusion energy devices. This is done through a focus on innovations to provide solutions for high performance long pulse operation, coupled with fundamental plasma physics understanding and model validation, to drive scenario development by integrating high performance core and boundary plasmas. Substantial increases in off-axis current drive efficiency from an innovative top launch system for EC power, and in pressure broadening for Alfven eigenmode control from a co-/counter-I p steerable off-axis neutral beam, all improve the prospects for optimization of future long pulse/steady state high performance tokamak operation. Fundamental studies into the modes that drive the evolution of the pedestal pressure profile and electron vs ion heat flux validate predictive models of pedestal recovery after ELMs. Understanding the physics mechanisms of ELM control and density pumpout by 3D magnetic perturbation fields leads to confident predictions for ITER and future devices. Validated modeling of high-Z shattered pellet injection for disruption mitigation, runaway electron dissipation, and techniques for disruption prediction and avoidance including machine learning, give confidence in handling disruptivity for future devices. For the non-nuclear phase of ITER, two actuators are identified to lower the L-H threshold power in hydrogen plasmas. With this physics understanding and suite of capabilities, a high poloidal beta optimized-core scenario with an internal transport barrier that projects nearly to Q = 10 in ITER at ∼8 MA was coupled to a detached divertor, and a near super H-mode optimized-pedestal scenario with co-I p beam injection was coupled to a radiative divertor. The hybrid core scenario was achieved directly, without the need for anomalous current diffusion, using off-axis current drive actuators. Also, a controller to assess proximity to stability limits and regulate β N in the ITER baseline scenario, based on plasma response to probing 3D fields, was demonstrated. Finally, innovative tokamak operation using a negative triangularity shape showed many attractive features for future pilot plant operation.
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