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- Bruce, A. M., et al.
(författare)
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Two-neutron alignment and shape changes in As-69
- 2000
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 6202:2
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Tidskriftsartikel (refereegranskat)abstract
- The nucleus As-69 was Studied using the Ca-40(S-32,3p)As-69 reaction at a beam energy of 105 MeV. An extension of the band built on the g(9/2) orbital was observed to exhibit a band crossing at a rotational frequency of 0.511 MeV with an associated alignment of 7 (h) over bar. This alignment is interpreted as being due to a pair of g(9/2) neutrons. Total Routhian surface calculations have been carried out which confirm that the shape of this nucleus changes from oblate at low spin to a triaxial prolate shape at intermediate spin.
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| 2. |
- Djoussé, L, et al.
(författare)
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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
- 2003
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 119A:3, s. 279-82
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Tidskriftsartikel (refereegranskat)abstract
- Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD-MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47-83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats.
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| 6. |
- Beyer, K., et al.
(författare)
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Association and linkage of atopic dermatitis with chromosome 13q12-14 and 5q31-33 markers
- 2000
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Ingår i: Journal of Investigative Dermatology. - : Elsevier BV. - 0022-202X .- 1523-1747. ; 115:5, s. 906-908
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Tidskriftsartikel (refereegranskat)abstract
- Atopic dermatitis is a chronic inflammatory skin disease that affects 10-20% of the population. Linkage of atopy, asthma, allergic rhinitis, and total serum IgE levels to several different chromosomal regions have been described extensively, but little is known about the genetic control of atopic dermatitis. We tested for the association and linkage between atopic dermatitis and five chromosomal regions: 5q31-33, 6p21.3, 12q15-24.1, 13q12-31, and 14q11.2/14q32.1-32.3. Marker analysis was performed in two Caucasian populations: (i) 192 unrelated German children with atopic dermatitis and 59 non-atopic children from a German birth cohort study (MAS '90), parental DNA was tested in 77 of 192 children with atopic dermatitis, (ii) 40 Swedish families with at least one family member with atopic dermatitis selected from the International Study of Asthma and Allergy in Children. Evidence for linkage and allelic association for atopic dermatitis was observed for markers on chromosome 13q12-14 and 5q31-33.
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| 7. |
- Carlsson, Lars, 1952, et al.
(författare)
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Bone conserving hip replacement.
- 2004
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Ingår i: 3rd Annual SICOT/SIROT Conference 2004.
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Konferensbidrag (refereegranskat)
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