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Sökning: WFRF:(Jenkins M) > (2010-2014) > (2014)

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1.
  • Thompson, B.A., et al. (författare)
  • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
  • 2014
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
  • Tidskriftsartikel (refereegranskat)abstract
    • The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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2.
  • Rauer, H., et al. (författare)
  • The PLATO 2.0 mission
  • 2014
  • Ingår i: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 38:1-2, s. 249-330
  • Tidskriftsartikel (refereegranskat)abstract
    • PLATO 2.0 has recently been selected for ESA's M3 launch opportunity (2022/24). Providing accurate key planet parameters (radius, mass, density and age) in statistical numbers, it addresses fundamental questions such as: How do planetary systems form and evolve? Are there other systems with planets like ours, including potentially habitable planets? The PLATO 2.0 instrument consists of 34 small aperture telescopes (32 with 25 s readout cadence and 2 with 2.5 s cadence) providing a wide field-of-view (2232 deg(2)) and a large photometric magnitude range (4-16 mag). It focuses on bright (4-11 mag) stars in wide fields to detect and characterize planets down to Earth-size by photometric transits, whose masses can then be determined by ground-based radial-velocity follow-up measurements. Asteroseismology will be performed for these bright stars to obtain highly accurate stellar parameters, including masses and ages. The combination of bright targets and asteroseismology results in high accuracy for the bulk planet parameters: 2 %, 4-10 % and 10 % for planet radii, masses and ages, respectively. The planned baseline observing strategy includes two long pointings (2-3 years) to detect and bulk characterize planets reaching into the habitable zone (HZ) of solar-like stars and an additional step-and-stare phase to cover in total about 50 % of the sky. PLATO 2.0 will observe up to 1,000,000 stars and detect and characterize hundreds of small planets, and thousands of planets in the Neptune to gas giant regime out to the HZ. It will therefore provide the first large-scale catalogue of bulk characterized planets with accurate radii, masses, mean densities and ages. This catalogue will include terrestrial planets at intermediate orbital distances, where surface temperatures are moderate. Coverage of this parameter range with statistical numbers of bulk characterized planets is unique to PLATO 2.0. The PLATO 2.0 catalogue allows us to e. g.: - complete our knowledge of planet diversity for low-mass objects, - correlate the planet mean density-orbital distance distribution with predictions from planet formation theories,- constrain the influence of planet migration and scattering on the architecture of multiple systems, and - specify how planet and system parameters change with host star characteristics, such as type, metallicity and age. The catalogue will allow us to study planets and planetary systems at different evolutionary phases. It will further provide a census for small, low-mass planets. This will serve to identify objects which retained their primordial hydrogen atmosphere and in general the typical characteristics of planets in such a low-mass, low-density range. Planets detected by PLATO 2.0 will orbit bright stars and many of them will be targets for future atmosphere spectroscopy exploring their atmospheres. Furthermore, the mission has the potential to detect exomoons, planetary rings, binary and Trojan planets. The planetary science possible with PLATO 2.0 is complemented by its impact on stellar and galactic science via asteroseismology as well as light curves of all kinds of variable stars, together with observations of stellar clusters of different ages. This will allow us to improve stellar models and study stellar activity. A large number of well-known ages from red giant stars will probe the structure and evolution of our Galaxy. Asteroseismic ages of bright stars for different phases of stellar evolution allow calibrating stellar age-rotation relationships. Together with the results of ESA's Gaia mission, the results of PLATO 2.0 will provide a huge legacy to planetary, stellar and galactic science.
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4.
  • Tarrío, Diego, et al. (författare)
  • Measurement of the angular distribution of fission fragments using a PPAC assembly at CERN n_TOF
  • 2014
  • Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 743, s. 79-85
  • Tidskriftsartikel (refereegranskat)abstract
    • A fission reaction chamber based on Parallel Plate Avalanche Counters (PPACs) was built for measuring angular distributions of fragments emitted in neutron-induced fission of actinides at the neutron beam available at the Neutron Time-Of-Flight (n_TOF) facility at CERN. The detectors and the samples were tilted 45 degrees with respect to the neutron beam direction to cover all the possible values of the emission angle of the fission fragments. The main features of this setup are discussed and results on the fission fragment angular distribution are provided for the Th-232(n,f) reaction around the fission threshold. The results are compared with the available data in the literature, demonstrating the good capabilities of this setup.
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5.
  • Tarrío, Diego, et al. (författare)
  • Fission Fragment Angular Distribution of Th-232(n,f) at the CERN n_TOF Facility
  • 2014
  • Ingår i: Nuclear Data Sheets. - Univ Santiago de Compostela, Santiago De Compostela, Spain. [Leong, L. S.; Audouin, L.; Tassan-Got, L.; Lederer, C.] IPN, CNRS, IN2P3, Orsay, France. [Altstadt, S.; Langer, C.; Lederer, C.; Reifarth, R.; Schmidt, S.; Weigand, M.] Goethe Univ Frankfurt, D-60054 Frankfurt, Germany. [Andrzejewski, J.; Marganiec, J.; Perkowski, J.] Univ Lodz, PL-90131 Lodz, Poland. [Barbagallo, M.; Colonna, N.; Mastromarco, M.; Meaze, M.; Tagliente, G.; Variale, V.] Ist Nazl Fis Nucl, I-70126 Bari, Italy. [Becares, V.; Cano-Ott, D.; Garcia, A. R.; Gonzalez-Romero, E.; Martinez, T.; Mendoza, E.] CIEMAT, E-28040 Madrid, Spain. [Becvar, F.; Krticka, M.; Kroll, J.; Valenta, S.] Charles Univ Prague, Prague, Czech Republic. [Belloni, F.; Berthoumieux, E.; Bosnar, D.; Chiaveri, E.; Fraval, K.; Gunsing, F.] CEA Saclay, Irfu, F-91191 Gif Sur Yvette, France. [Berthoumieux, E.; Boccone, V.; Bosnar, D.; Brugger, M.; Calviani, M.; Cerutti, F.; Chiaveri, E.; Chin, M.; Ferrari, A.; Guerrero, C.; Kadi, Y.; Losito, R.; Roman, F.; Rubbia, C.; Tsinganis, A.; Versaci, R.; Vlachoudis, V.] CERN, European Org Nucl Res, CH-1211 Geneva, Switzerland. [Billowes, J.; Ware, T.; Wright, T. J.] Univ Manchester, Manchester, Lancs, England. [Zugec, P.] Univ Zagreb, Fac Sci, Dept Phys, Zagreb 41000, Croatia. [Calvino, F.; Cortes, G.; Gomez-Hornillos, M. B.; Riego, A.] Univ Politecn Cataluna, Barcelona, Spain. [Carrapico, C.; Goncalves, I. F.; Sarmento, R.; Vaz, P.] Univ Tecn Lisboa, Inst Super Tecn, Inst Tecnol Nucl, P-1096 Lisbon, Portugal. [Cortes-Giraldo, M. A.; Praena, J.; Quesada, J. M.] Univ Seville, Seville, Spain. [Diakaki, M.; Karadimos, D.; Kokkoris, M.; Vlastou, R.] Natl Tech Univ Athens, GR-10682 Athens, Greece. [Domingo-Pardo, C.; Giubrone, G.; Tain, J. L.] Univ Valencia, CSIC, Inst Fis Corpuscular, E-46003 Valencia, Spain. [Dzysiuk, N.; Mastinu, P. F.] Ist Nazl Fis Nucl, Lab Nazl Legnaro, Milan, Italy. [Eleftheriadis, C.; Manousos, A.] Aristotle Univ Thessaloniki, GR-54006 Thessaloniki, Greece. [Ganesan, S.; Gurusamy, P.] Bhabha Atom Res Ctr, Bombay 400085, Maharashtra, India. [Griesmayer, E.; Jericha, E.; Leeb, H.; Weiss, C.] Vienna Univ Technol, Inst Atom, Vienna, Austria. [Jenkins, D. G.; Vermeulen, M. J.] Univ York, York YO10 5DD, N Yorkshire, England. [Kaeppeler, F.] Karlsruhe Inst Technol, Inst Kernphys, D-76021 Karlsruhe, Germany. [Koehler, P.] Oak Ridge Natl Lab, Oak Ridge, TN 37831 USA. [Lederer, C.; Pavlik, A.; Wallner, A.] Univ Vienna, Fac Phys, A-1010 Vienna, Austria. [Massimi, C.; Mingrone, F.; Vannini, G.] Univ Bologna, Dipartimento Fis, I-40126 Bologna, Italy. [Massimi, C.; Mingrone, F.; Vannini, G.] Sez INFN Bologna, Bologna, Italy. [Mengoni, A.; Ventura, A.] Agenzia Nazl Nuove Tecnol, Eenergia & Sviluppo Econ Sostenibile ENEA, Bologna, Italy. [Milazzo, P. M.] Ist Nazl Fis Nucl, Trieste, Italy. [Mirea, M.; Roman, F.] Horia Hulubei Natl Inst Phys & Nucl Engn, IFIN HH, Bucharest, Romania. [Mondalaers, W.; Plompen, A.; Schillebeeckx, P.] European Commiss JRC, Inst Reference Mat & Measurements, B-2440 Geel, Belgium. [Rauscher, T.] Univ Basel, Dept Phys & Astron, Basel, Switzerland. [Rubbia, C.] Ist Nazl Fis Nucl, Lab Nazl Gran Sasso, Assergi, AQ, Italy. : Elsevier BV. - 0090-3752 .- 1095-9904. ; 119, s. 35-37
  • Tidskriftsartikel (refereegranskat)abstract
    • The angular distribution of fragments emitted in neutron-induced fission of Th-232 was measured in the white spectrum neutron beam at the n_TOF facility at CERN. A reaction chamber based on Parallel Plate Avalanche Counters (PPAC) was used, where the detectors and the targets have been tilted 45 degrees with respect to the neutron beam direction in order to cover the full angular range of the fission fragments. A GEANT4 simulation has been developed to study the setup efficiency. The data analysis and the preliminary results obtained for the Th-232(n,f) between fission threshold and 100 MeV are presented here.
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6.
  • Bree, N, et al. (författare)
  • Shape Coexistence in the Neutron-Deficient Even-Even Hg182-188 Isotopes Studied via Coulomb Excitation.
  • 2014
  • Ingår i: Physical Review Letters. - 1079-7114. ; 112:16
  • Tidskriftsartikel (refereegranskat)abstract
    • Coulomb-excitation experiments to study electromagnetic properties of radioactive even-even Hg isotopes were performed with 2.85 MeV/nucleon mercury beams from REX-ISOLDE. Magnitudes and relative signs of the reduced E2 matrix elements that couple the ground state and low-lying excited states in Hg182-188 were extracted. Information on the deformation of the ground and the first excited 0+ states was deduced using the quadrupole sum rules approach. Results show that the ground state is slightly deformed and of oblate nature, while a larger deformation for the excited 0+ state was noted in Hg182,184. The results are compared to beyond mean field and interacting-boson based models and interpreted within a two-state mixing model. Partial agreement with the model calculations was obtained. The presence of two different structures in the light even-mass mercury isotopes that coexist at low excitation energy is firmly established.
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7.
  • Karpyak, V. M., et al. (författare)
  • Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate
  • 2014
  • Ingår i: Translational Psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 4, s. e462-
  • Tidskriftsartikel (refereegranskat)abstract
    • Acamprosate supports abstinence in some alcohol-dependent subjects, yet predictors of response are unknown. To identify response biomarkers, we investigated associations of abstinence length with polymorphisms in candidate genes in glycine and glutamate neurotransmission pathways and genes previously implicated in acamprosate response. Association analyses were conducted in the discovery sample of 225 alcohol-dependent subjects treated with acamprosate for 3 months in community-based treatment programs in the United States. Data from 110 alcohol-dependent males treated with acamprosate in the study PREDICT were used for replication of the top association findings. Statistical models were adjusted for relevant covariates, including recruitment site and baseline clinical variables associated with response. In the discovery sample, shorter abstinence was associated with increased intensity of alcohol craving and lower number of days between the last drink and initiation of acamprosate treatment. After adjustment for covariates, length of abstinence was associated with the GRIN2B rs2058878 (P = 4.6 x 10(-5)). In the replication sample, shorter abstinence was associated with increased craving, increased depressive mood score and higher alcohol consumption. Association of abstinence length with GRIN2B rs2058878 was marginally significant (P = 0.0675); as in the discovery sample, the minor A allele was associated with longer abstinence. Furthermore, rs2300272, which is in strong linkage disequilibrium with rs2058878, was also associated with abstinence length (P = 0.049). This is the first report of a replicated association of genetic markers with the length of abstinence in acamprosate-treated alcoholics. Investigation of the underlying mechanisms of this association and its usefulness for individualized treatment selection should follow.
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8.
  • Amole, C., et al. (författare)
  • The ALPHA antihydrogen trapping apparatus
  • 2014
  • Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 735, s. 319-340
  • Tidskriftsartikel (refereegranskat)abstract
    • The ALPHA collaboration, based at CERN, has recently succeeded in confining cold antihydrogen atoms in a magnetic minimum neutral atom trap and has performed the first study of a resonant transition of the anti-atoms. The ALPHA apparatus will be described herein, with emphasis on the structural aspects, diagnostic methods and techniques that have enabled antihydrogen trapping and experimentation to be achieved.
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  • Resultat 1-10 av 16

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