| 1. |
- Dunham, I, et al.
(författare)
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The DNA sequence of human chromosome 22
- 1999
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 402:6761, s. 489-495
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Cederwall, Bo, et al.
(författare)
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Collective rotational-vibrational transition in the very neutron-deficient nuclei (171,172)-Pt
- 1998
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Ingår i: Physics Letters B. - AMSTERDAM, NETHERLANDS : ELSEVIER SCIENCE. - 0370-2693 .- 1873-2445. ; 443:1-4, s. 69-76
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Tidskriftsartikel (refereegranskat)abstract
- Excited states have been identified for the first time in very neutron deficient Pt-171.172 nuclei using the recoil-or-decay tagging technique. The ground-state band in Pt-172 has been established up to I-pi = 8+. A similar level sequence, presumably built on the I-pi = 13/2(+) state, is observed for Pt-171. The data are compared with theoretical calculations based on the mean field approach and the random phase approximation and are put into the context of the systematics of platinum isotopes. (C) 1998 Elsevier Science B.V. All rights reserved.
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| 5. |
- King, S L, et al.
(författare)
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First observation of excited states in the neutron deficient nuclei (PT)-P-168 and Pt-170
- 1998
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Ingår i: Physics Letters B. - 0370-2693 .- 1873-2445. ; 443:1-4, s. 82-88
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Tidskriftsartikel (refereegranskat)abstract
- Excited states have been observed for the first time in (XPt)-X-168 and Pt-170 using the alpha-decay recoil-tagging technique. The trend of decreasing deformation moving away from the N = 104 mid-shell continues far Pt-170 but the structure of Pt-168 is significantly different. The low spin level energy systematics in Pt168-184 are presented and discussed within the framework of the interacting boson model. (C) 1998 Elsevier Science B.V. All rights reserved.
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| 6. |
- Shattuck Eidens, Donna, et al.
(författare)
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A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene : Implications for Presymptomatic Testing and Screening
- 1995
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Ingår i: JAMA: The Journal of the American Medical Association. - : American Medical Association (AMA). - 0098-7484. ; 273:7, s. 535-541
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES:To report the initial experience of an international group of investigators in identifying mutations in the BRCA1 breast and ovarian cancer susceptibility gene, to assess the spectrum of such mutations in samples from patients with different family histories of cancer, and to determine the frequency of recurrent mutations.DESIGN:Nine laboratories in North America and the United Kingdom tested for BRCA1 mutations in DNA samples obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen from high-risk families. Three of these laboratories also analyzed a total of 714 additional samples from breast or ovarian cancer cases, including 557 unselected for family history, for two specific mutations that had been found to recur in familial samples.PARTICIPANTS:A total of 1086 women with either breast or ovarian cancer.MAIN OUTCOME MEASURE:The detection of sequence variation in patients' DNA samples that is not found in sets of control samples.RESULTS:BRCA1 mutations have now been identified in a total of 80 patient samples. Thirty-eight distinct mutations were found among 63 mutations identified through a complete screen of the BRCA1 gene. Three specific mutations appeared relatively common, occurring eight, seven, and five times, respectively. When specific tests for the two most common mutations were performed in larger sets of samples, they were found in 17 additional patients. Mutations predicted to result in a truncated protein accounted for 86% of the mutations detected by complete screening.CONCLUSIONS:The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations. More data must be accumulated to address specifically the sensitivity and specificity of such a diagnostic testing procedure and to better estimate the age-specific risk for breast and ovarian cancer associated with such mutations.
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