| 1. |
- Antonarakis, S. E., et al.
(författare)
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Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
- 1995
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
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Tidskriftsartikel (refereegranskat)abstract
- Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
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| 2. |
- 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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| 3. |
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| 4. |
- Orton, G, et al.
(författare)
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Earth-based observations of the Galileo probe entry site
- 1996
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Ingår i: SCIENCE. - : AMER ASSOC ADVANCEMENT SCIENCE. - 0036-8075. ; 272:5263, s. 839-840
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Tidskriftsartikel (refereegranskat)abstract
- Earth-based observations of Jupiter indicate that the Galileo probe probably entered Jupiter's atmosphere just inside a region that has less cloud cover and drier conditions than more than 99 percent of the rest of the planet. The visual appearance of the
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| 6. |
- Kuiper, Pieter, 1960-, et al.
(författare)
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Polarization-dependent nickel 2p x-ray-absorption spectra of La2NiO4+δ
- 1998
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Ingår i: Physical Review B Condensed Matter. - College Park, MD : American Physical Society. - 0163-1829 .- 1095-3795. ; 57:3, s. 1552-1557
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Tidskriftsartikel (refereegranskat)abstract
- We present polarization dependent x-ray-absorption spectra at nickel L edges of well-characterized La2NiO4+δ single crystals. In the stoichiometric compound the splitting between the x2−y2 and the 3z2−r2 orbitals is 0.7 eV, according to a fit of the 2p53d9 multiplet to the spectra. This value is in agreement with an assignment of dd excitations of the optical spectrum. The Ni L edges of the doped compound are consistent with the isotropic prepeak observed at the oxygen 1s edge. Theory does not predict holes on the apex oxygens, but we argue that doping causes a polaronic deformation which reduces the tetragonal distortion of the NiO6 octahedra, and delocalizes the hole over all six ligands.
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| 7. |
- Huang, J., et al.
(författare)
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Growth of SiC thin films on (100) and (111) silicon by pulsed laser deposition combined with a vacuum annealing process
- 1999
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Ingår i: Materials Research Society Symposium - Proceedings. - San Francisco, CA, USA. ; , s. 207-212
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Konferensbidrag (refereegranskat)abstract
- Crystalline 3C-SiC thin films were successfully grown on (100) and (111) Si substrates by using ArF pulsed laser ablation from a SiC ceramic target combined with a vacuum annealing process. X-ray diffraction (XRD) and Fourier transform infrared spectroscopy (FTIR) were employed to study the effect of annealing on the structure of thin films deposited at 800°C. It was demonstrated that vacuum annealing could transform the amorphous SiC films into crystalline phase and that the crystallinity was strongly dependent on the annealing temperature. For the samples deposited on (100) and (111) Si, the optimum annealing temperatures were 980 and 920°C, respectively. Scanning electron microscope (SEM) micrographs exhibited different characteristic microstructure for the (100) and (111) Si cases, similar to that observed for the carbonization layer initially formed in chemical vapor deposition of SiC films on Si. This also showed the presence of the epitaxial relationship of 3C-SiC[100]//Si[100] and 3C-SiC[111]//Si[111] in the direction of growth.
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