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排序方式: 共有443条查询结果,搜索用时 62 毫秒
1.
J C H Miles G M Kendall Z-F Ibrahimi C B Howarth 《Journal of radiological protection》2004,24(2):165-171
Etched track detectors are widely used for the detection of radon and its decay products. They have many desirable attributes: they are small, cheap, simple, non-toxic and non-hazardous. Etched track detectors provide adequate accuracy for most radiological protection purposes provided stringent quality assurance is maintained. The UK validation scheme provides an important component of QA but continuous monitoring of conditions and results is also needed. If these conditions are observed, these detectors provide an entirely adequate tool for large-scale use in assessing levels of radon in houses. Accurate estimates of long-term average radon levels require a measurement over several months because of the short-term fluctuations in radon concentrations. 相似文献
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Oscillatory motion of the normal cervical spinal cord 总被引:2,自引:0,他引:2
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Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations 总被引:9,自引:1,他引:9
Meyer J; Sudbeck P; Held M; Wagner T; Schmitz ML; Bricarelli FD; Eggermont E; Friedrich U; Haas OA; Kobelt A; Leroy JG; Van Maldergem L; Michel E; Mitulla B; Pfeiffer RA; Schinzel A; Schmidt H; Scherer G 《Human molecular genetics》1997,6(1):91-98
It has previously been shown that, in the heterozygous state, mutations in
the SOX9 gene cause campomelic dysplasia (CD) and the often associated
autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one
recurrent mutation were characterized in one SOX9 allele each, and in one
case, no mutation was found. Four missense mutations are all located within
the high mobility group (HMG) domain. They either reduce or abolish the
DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense
and three frameshift mutations identified, two leave the C-terminal
transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or
almost completely intact. When tested in cell transfection experiments, the
recurrent nonsense mutation Y440X, found in two patients who survived for
four and more than 9 years, respectively, exhibits some residual
transactivation ability. In contrast, a frameshift mutation extending the
protein by 70 residues at codon 507, found in a patient who died shortly
after birth, showed no transactivation. This is apparently due to
instability of the mutant SOX9 protein as demonstrated by Western blotting.
Amino acid substitutions and nonsense mutations are found in patients with
and without XY sex reversal, indicating that sex reversal in CD is subject
to variable penetrance. Finally, none of 18 female patients with XY gonadal
dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP
assays, providing evidence that SOX9 mutations do not usually result in XY
sex reversal without skeletal malformations.
相似文献
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Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse 总被引:1,自引:3,他引:1
8.
Sbai Hicham Mellouki ihsane El Bouazzaoui Abderahim Boukatta Brahim Smail Labib Harrandou Mustapha Khatouf Mohamed Ibrahimi Adil Melhouf Abdelilah Kanjaa Nabil 《Indian Journal of Critical Care Medicine》2013,17(1):43-45
Leptospirosis is the most widespread zoonosis in the world. It is caused by pathogenic leptospira infection. This infection is also an uncommon cause of hepatorenal failure. Indeed, hemolysis, elevated liver enzyme levels and low platelet count syndrome, and acute fatty liver of pregnancy are specific to the pregnant state. Leptospirosis is rarely described in pregnancy; it might mimic puerperal sepsis or hepatorenal failure associated with pregnancy induced hypertension. We report a case of leptospirosis presenting as multiple organ failure during third trimester of pregnancy with a good outcome. 相似文献
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