| 1. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 2. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
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| 4. |
- Kesteloot, N., et al.
(författare)
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Deformation and mixing of coexisting shapes in neutron-deficient polonium isotopes
- 2015
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 92:5
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Tidskriftsartikel (refereegranskat)abstract
- Coulomb-excitation experiments are performed with postaccelerated beams of neutron-deficient Po-196,Po-198,Po-200,Po-202 isotopes at the REX-ISOLDE facility. A set of matrix elements, coupling the low-lying states in these isotopes, is extracted. In the two heaviest isotopes, Po-196,Po-198, the transitional and diagonal matrix elements of the 2(1)(+) state are determined. In Po-196,Po-198 multistep Coulomb excitation is observed, populating the 4(1)(+), 0(2)(+), and 2(2)(+) states. The experimental results are compared to the results from the measurement of mean-square charge radii in polonium isotopes, confirming the onset of deformation from Po-196 onwards. Three model descriptions are used to compare to the data. Calculations with the beyond-mean-field model, the interacting boson model, and the general Bohr Hamiltonian model show partial agreement with the experimental data. Finally, calculations with a phenomenological two-level mixing model hint at the mixing of a spherical structure with a weakly deformed rotational structure.
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| 5. |
- Herzan, A., et al.
(författare)
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Detailed spectroscopy of Bi-195
- 2017
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 96:1
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Tidskriftsartikel (refereegranskat)abstract
- An experiment focused on the study of shape coexistence and new high-spin structures in Bi-195 has been performed. The nucleus is in a transitional region of the bismuth isotope chain. A large number of new states have been found, resulting in a significant extension of the previously known level scheme. Several new collective structures have been identified. A strongly coupled rotational band built upon the 13/2(+) isomeric state was extended up to I-pi = (49/2(+)) and an energy of 5706 keV. The I-pi = 31/2(+) member of the pi i(13/2) band was also found to feed a new long-lived isomeric state with an excitation energy of 2616 keV and a spin and parity of I-pi = 29/2(+). The half-life of the 29/2+ isomeric state was determined to be 1.49(1) mu s. It decays via the emission of 457-keV E2 and 236-keV E1 transitions, respectively. A low-energy 46-keV E2 transition has been identified to depopulate the (29/(2-)) isomeric state, with a measured half-life of T-1/2 = 614(5) ns. This transition allows the excitation energy of the isomeric state to be determined as 2381 keV. The feeding patterns of both 29/2(+) and (29/2(-)) isomeric states have also been described. This is the first time collective structures have also been observed up to high spins and excitation energies in the neutron-deficient Bi-195 nucleus. Evidence for the manifestation of shape coexistence in Bi-195 is also discussed.
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| 6. |
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| 7. |
- Parr, E., et al.
(författare)
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Identification of the J(pi)=1(-) state in Ra-218 populated via alpha decay of Th-222
- 2016
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Ingår i: PHYSICAL REVIEW C. - 2469-9985. ; 94:1
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Tidskriftsartikel (refereegranskat)abstract
- The alpha decay of Th-222 populating the low-lying J(pi) = 3(-) state, and also a proposed 1(-) state, in Ra-218 has been observed. The observations suggest an excitation energy of 853 keV for the 1(-) state, which is 60 keV above the 3(-) state. The hindrance factors of these alpha decays give a possible boundary to the region of ground-state octupole deformation in the light-actinide nuclei. The relative positions of the J(pi) = 1(-) and 3(-) states suggest they are produced by an octupole-vibrational mechanism, as opposed to alpha clustering or rotations of a reflection-asymmetric octupole-deformed shape.
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| 8. |
- Parr, E., et al.
(författare)
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Single-particle states and parity doublets in odd- Z Ac 221 and Pa 225 from α -decay spectroscopy
- 2022
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Ingår i: Physical Review C. - 2469-9985. ; 105:3
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Tidskriftsartikel (refereegranskat)abstract
- Low-lying states in the odd-Z isotopes Ac13289221 and Pa13491225 have been studied using α-particle and αγ-coincidence spectroscopy in the Pa225→Ac221→Fr217 decay chain. Ground-state spin and parity assignments of Iπ = 5/2- are proposed for both Ac221 and Pa225, with the odd proton occupying the ω = 5/2 orbital of the quadrupole-octupole deformed shell model in both nuclei. In Ac221, excited states in the bands based on the ω = 5/2 and ω = 3/2 orbitals have been identified, including proposed parity-doublet states. The results suggest that reflection-asymmetric deformation of the ground state persists in the odd-A members of the isotope chains down to N = 132 for Ac and N = 134 for Pa, before reaching the transitional region at N = 130.
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| 9. |
- Auranen, K., et al.
(författare)
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Prompt and delayed spectroscopy of At-203 : Observation of a shears band and a 29/2(+) isomeric state
- 2018
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 97:2
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Tidskriftsartikel (refereegranskat)abstract
- Using fusion-evaporation reactions, a gas-filled recoil separator, recoil-gating technique and recoil-isomer decay tagging technique we have extended the level scheme of At-203 (N = 118) significantly. We have observed an isomeric [tau = 14.1(3) mu s] state with a spin and parity of 29/2(+). The isomeric state is suggested to originate from the pi(h(9/2)) circle times |Po-202; 11(-)> coupling, and it is depopulated through 286 keV E2 and 366 keV E3 transitions. In addition, we have observed a cascade of magnetic-dipole transitions which is suggested to be generated by the shears mechanism.
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| 10. |
- Briselet, R., et al.
(författare)
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Production cross section and decay study of Es 243 and Md 249
- 2019
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Ingår i: Physical Review C. - 2469-9985. ; 99:2
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Tidskriftsartikel (refereegranskat)abstract
- In the study of the odd-Z, even-N nuclei Es243 and Md249, performed at the University of Jyväskylä, the fusion-evaporation reactions Au197(Ca48,2n)Es243 and Tl203(Ca48,2n)Md249 have been used for the first time. Fusion-evaporation residues were selected and detected using a gas-filled separator coupled with its focal-plane spectrometer. For Es243, the recoil decay correlation analysis yielded a half-life of 24±3s and a maximum production cross section of 37±10nb. In the same way, a half-life of 26±1s, an α-branching ratio of 75±5%, and a maximum production cross section of 300±80nb were determined for Md249. The decay properties of Es245, the daughter of Md249, were also measured: an α-branching ratio of 54±7% and a half-life of 65±6s. Experimental cross sections were compared to the results of calculations performed using the kewpie2 statistical fusion-evaporation code.
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| 11. |
- Herzáň, A., et al.
(författare)
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Detailed spectroscopy of Bi 193
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 92:4
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Tidskriftsartikel (refereegranskat)abstract
- An experiment aiming to study shape coexistence in Bi193 has been performed. Due to its transitional character, it has an exceptionally large number of structures identified close to the yrast line. Many new states have been found, significantly extending the previously known level scheme of Bi193, including several new rotational bands. The πi13/2 band was extended to Iπ=45/2+. The Iπ=31/2+ member of the πi13/2 band was found to de-excite also to a long-lived isomeric state. This isomeric state is located at 2350 keV and has a spin and parity of 29/2+. The half-life of the isomeric state was measured to be 85(3) μs and it decays via the emission of an 84 keV E2 transition. A level structure feeding this isomeric state was constructed. A low-energy, 49 keV transition has been identified to depopulate the (29/2-) isomeric state, which places it at an energy 2405 keV in the level scheme. This is the first time such a decay has been observed in the neutron-deficient Bi isotopes. A superdeformed band almost identical to that present in the neighboring isotope Bi191, based on the 1/2[651] Nilsson orbital, has also been identified.
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| 12. |
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| 13. |
- Pereira-López, X., et al.
(författare)
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In-beam γ -ray spectroscopy of 94 Ag
- 2023
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 59:3
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Tidskriftsartikel (refereegranskat)abstract
- A recoil-beta-tagging experiment has been performed to study the excited T= 0 and T= 1 states in the odd–odd N= Z nucleus 94Ag, populated via the 40Ca(58Ni,1p3n)94Ag reaction. The experiment was conducted using the MARA recoil separator and JUROGAM3 array at the Accelerator Laboratory of the University of Jyväskylä. Through correlating fast, high-energy beta decays at the MARA focal plane with prompt γ rays emitted at the reaction target, a number of transitions between excited states in 94Ag have been identified. The timing characteristics of these transitions confirm that they fall within decay sequences that feed the short-lived T= 1 ground state of 94Ag. The transitions are proposed to proceed within and between the sets of states with T= 0 and T= 1. Possible correspondence between some of these transitions from analog states in 94Pd has been discussed, and shell-model calculations including multipole and monopole electromagnetic effects have been presented, in order to enable predictions of the decay patterns between the T= 0 and T= 1 states and to allow a theoretical set of Coulomb energy differences to be calculated for the A= 94 T= 1 analog states.
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| 14. |
- Saygi, B., et al.
(författare)
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Reduced transition probabilities along the yrast line in W-166
- 2017
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 96:2
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Tidskriftsartikel (refereegranskat)abstract
- Lifetimes of excited states in the yrast band of the neutron-deficient nuclide W-166 have been measured utilizing the DPUNS plunger device at the target position of the JUROGAM II gamma-ray spectrometer in conjunction with the RITU gas-filled separator and the GREAT focal-plane spectrometer. Excited states in W-166 were populated in the Mo-92(Kr-78, 4p) reaction at a bombarding energy of 380 MeV. The measurements reveal a low value for the ratio of reduced transitions probabilities for the lowest-lying transitions B(E2; 4(+)-> 2(+)) / B(E2; 2(+)-> 0(+)) = 0.33(5), compared with the expected ratio for an axially deformed rotor (B-4/2 = 1.43).
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| 15. |
- Taylor, M. J., et al.
(författare)
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Oblately deformed isomeric proton-emitting state in Lu-151
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 91:4
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Tidskriftsartikel (refereegranskat)abstract
- Gamma rays from excited states feeding a proton-emitting isomeric-state in Lu-151 have been observed for the first time. Comparison with state-of-the-art nonadiabatic quasiparticle calculations indicates an oblately deformed, 3/2(+) proton-emitting state with a quadrupole deformation of beta(2) = -0.11. The calculations suggest an increase in quadrupole deformation, to beta(2) = -0.18, with increasing spin which is understood in terms of the mixing of Nilsson states at the Fermi surface. It is also shown that the proton decay half-life is consistent with that from a 3/2(+) state with a quadrupole deformation of beta(2) = -0.12.
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| 16. |
- Auranen, K., et al.
(författare)
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Experimental study of isomeric intruder 1/2(+) states in At-197,At-203
- 2017
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Ingår i: Physical Review C. - : AMER PHYSICAL SOC. - 2469-9985 .- 2469-9993. ; 95:4
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Tidskriftsartikel (refereegranskat)abstract
- A newly observed isomeric intruder 1/2(+) state [T-1/2 = 3.5( 6) ms] is identified in At-203 using a gas-filled recoil separator and fusion-evaporation reactions. The isomer is depopulated through a cascade of E3 and mixed M1/E2 transitions to the 9/2(-) ground state, and it is suggested to originate from the pi(s(1/2))(-1) configuration. In addition, the structures above the 1/2(+) state in At-203 and At-197 are studied using in-beam gamma-ray spectroscopy, recoil-decay tagging, and recoil-isomer decay tagging methods. The 1/2(+) state is fed from 3/2(+) and 5/2(+) states, and the origin of these states are discussed.
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| 17. |
- Badran, H., et al.
(författare)
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Confirmation of the new isotope Pb-178
- 2016
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Ingår i: PHYSICAL REVIEW C. - 2469-9985. ; 94:5
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Tidskriftsartikel (refereegranskat)abstract
- The extremely neutron-deficient isotope Pb-178 has been produced. The GREAT spectrometer at the focal plane position of the gas-filled separator RITU was used to study the alpha decay of Pb-178 and its alpha-decay chain through alpha-alpha correlations. The alpha decay was measured to have an energy and half-life of E-alpha = 7610(30) keV and t(1/2) = 0.21(-0.08)(+0.21) ms, respectively. The half-life is consistent with recent theoretical calculations using the Coulomb and proximity potential model. The alpha-decay reduced width and hindrance factor for Pb-178 were deduced and correspond to an unhindered Delta l = 0 transition. In addition, the mass excess of Pb-178 and the alpha-decay Q value were calculated from the experimental results and compared to theoretical values.
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| 18. |
- Badran, H., et al.
(författare)
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Decay spectroscopy of Pb-179(82)97 and evidence for a 9/2(-) intruder state in Tl-179(81)98
- 2017
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Ingår i: Physical Review C. - 2469-9985 .- 2469-9993. ; 96:6
-
Tidskriftsartikel (refereegranskat)abstract
- The very neutron-deficient isobars Pb-179 and Tl-179 have been produced using the fusion-evaporation reactions Pd-104(Kr-78,xpyn), where x <= 1 and y >= 2. The gas-filled separator RITU was employed to transport and separate the recoiling nuclei of interest from the scattered beam and unwanted products. The GREAT spectrometer was used to study the decay properties through alpha-alpha and alpha-gamma correlations, which has allowed the ground state of Pb-179 to be assigned as I-pi = 9/2(-). The decay of Pb-179 was measured to have an alpha-particle energy and half-life of E-alpha = 7348(5) keV and t(1/2) = 2.7(2) ms, respectively. A search for a nu i(13/2) state in Pb-179 was performed, but only a limit of excitation energy and half-life was obtained. In Tl-179 a t(1/2) = 114(-10)(+18) ns isomeric state, likely at an excitation energy of 904.5(9) keV, was identified and is tentatively assigned to be a 9/2(-) proton intruder state.
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| 19. |
- Brockmann, Sarah J., et al.
(författare)
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CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
- 2018
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 27:4, s. 706-715
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by an unknown mechanism. In this study, we investigate the mutations p. R15L and p. G66V in comparison to wild-type CHCHD10 and the non-pathogenic variant p. P34S in vitro, in patient cells as well as in the vertebrate in vivo model zebrafish. We demonstrate a reduction of CHCHD10 protein levels in p. R15L and p. G66V mutant patient cells to approximately 50%. Quantitative real-time PCR revealed that expression of CHCHD10 p. R15L, but not of CHCHD10 p. G66V, is already abrogated at the mRNA level. Altered secondary structure and rapid protein degradation are observed with regard to the CHCHD10 p. G66V mutant. In contrast, no significant differences in expression, degradation rate or secondary structure of non-pathogenic CHCHD10 p. P34S are detected when compared with wild-type protein. Knockdown of CHCHD10 expression in zebrafish to about 50% causes motoneuron pathology, abnormal myofibrillar structure and motility deficits in vivo. Thus, our data show that the CHCHD10 mutations p. R15L and p. G66V cause motoneuron disease primarily based on haploinsufficiency of CHCHD10.
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| 20. |
- Doncel, Maria, et al.
(författare)
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Lifetime measurement of the first excited 2(+) state in Te-112
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 91:6
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Tidskriftsartikel (refereegranskat)abstract
- The lifetime of the 2(+) --> 0(g.s.)(+) transition in the neutron-deficicient nucleus Te-112 has been measured for the first time using the DPUNS plunger and the recoil distance Doppler shift technique. The deduced value for the reduced transition probability is B(E2 :0(g.s.)(+) --> 2(+)) = 0.46 +/- 0.04 e(2)b(2), indicating that there is no unexpected enhancement of the B(E2 :0(g.s.)(+) --> 2(+)) values in Te isotopes below the midshell. The result is compared to and discussed in the framework of large-scale shell-model calculations.
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| 21. |
- Doncel, Maria, et al.
(författare)
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Lifetime measurements of excited states in W-162 and W-164 and the evolution of collectivity in rare-earth nuclei
- 2017
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 95:4
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Tidskriftsartikel (refereegranskat)abstract
- Lifetimes of the first excited 2(+) states in the extremely neutron- deficient W-162 and W-164 nuclei have been measured using the recoil distance Doppler shift technique. Experimental B(E2) data for the isotopic chains of hafnium, tungsten, and osmium, from the midshell region near the beta-stability line towards the N = 82 closed shell and the most neutron-deficient nuclides, are compared with predictions of nuclear deformations and 2(1)(+) -> 0(g.s)(.+) reduced transition strengths from different classes of state-of-the-art theoretical model calculations. The results reveal striking differences and deficiencies in the predictive power of current nuclear structure models.
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| 22. |
- Doncel, Maria, et al.
(författare)
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Spin-dependent evolution of collectivity in Te 112
- 2017
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 96:5
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Tidskriftsartikel (refereegranskat)abstract
- The evolution of collectivity with spin along the yrast line in the neutron-deficient nucleus Te112 has been studied by measuring the reduced transition probability of excited states in the yrast band. In particular, the lifetimes of the 4+ and 6+ excited states have been determined by using the recoil distance Doppler-shift method. The results are discussed using both large-scale shell-model and total Routhian surface calculations.
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| 23. |
- Gillespie, S. A., et al.
(författare)
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Identification of a 6.6 μ s isomeric state in Ir 175
- 2019
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Ingår i: Physical Review C. - 2469-9985. ; 99:6
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Tidskriftsartikel (refereegranskat)abstract
- An experiment has been performed to study excited states in the neutron-deficient nucleus Ir175 via the use of the JUROGAM II high-purity germanium detector array and the RITU gas-filled separator at JYFL, Jyväskylä. By using isomer tagging, an isomeric state with a half-life of 6.58(15) μs has been observed in Ir175 for the first time. It has been established that the isomer decays via a 45.2 (E1)-26.1 (M1) keV cascade to new states below the previously reported ground state in Ir175 with Iπ=(5/2-). We now reassign this (5/2-) state to the isomeric state discovered in this study.
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| 24. |
- Gillespie, S. A., et al.
(författare)
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Identification of sub- μ s isomeric states in the odd-odd nucleus Au 178
- 2021
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Ingår i: Physical Review C. - 2469-9985. ; 103:4
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Tidskriftsartikel (refereegranskat)abstract
- The neutron-deficient gold (Z=79) isotopes in the vicinity of the neutron midshell N=104 provide prolific examples of shape coexistence and isomerism at low excitation energy. They can be probed via a number of different experimental techniques. In this study, two new isomeric states with half-lives of 294(7) and 373(9) ns have been observed in the neutron-deficient odd-odd nuclide Au178 (N=99) in an experiment at the RITU gas-filled separator at JYFL, Jyväskylä. This result was achieved due to the use of a segmented planar germanium detector with a high efficiency at low energies. By applying the recoil-decay tagging technique, they were assigned to decay to two different long-lived α-decaying states in Au178.
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| 25. |
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