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排序方式: 共有432条查询结果,搜索用时 15 毫秒
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Aude Tessier Mélie Sarreau Fanny Pelluard Gwenaelle André Sophie Blesson Martine Bucourt Pierre Dechelotte Laurence Faivre Thierry Frébourg Alice Goldenberg Valérie Goua Corinne Jeanne-Pasquier Fabien Guimiot Annie Laquerriere Nicole Laurent Mathilde Lefebvre Philippe Loget Martine Maréchaud Charlotte Mechler Marie-Josée Perez Jean Christophe Sabourin Alain Verloes Sophie Patrier Anne-Marie Guerrot 《黑龙江环境通报》2016,36(13):1270-1275
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Paule Bénit Jean-Paul Bonnefont Ali Kara Mostefa Christine Francannet Arnold Munnich Pierre F. Ray 《黑龙江环境通报》2001,21(4):279-283
Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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Jean‐Pierre Amigues Gérard Gaudet Michel Moreaux 《Environmental Modeling and Assessment》1997,2(4):323-331
When population is increasing, characterizing the optimal water consumption path is complicated by the fact that the underlying dynamics of the water stock is contingent on the level of the stock itself. We propose a method of constructing the optimal path in this case. Since population is increasing, the optimal consumption path may involve refraining at times from consuming the totality of the surface water flow in order to restock in groundwater for future consumption. The aquifer then serves as a means to achieve welfare increasing intertemporal transfers of surface water. Therefore the aquifer itself, as distinct from the stock of water it serves to store, may have value and the marginal valuation of water when groundwater stocks are being drawn upon should, for this reason, differ at times from the marginal valuation of water when it is drawn strictly from surface water. 相似文献
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Pierre Mineau 《Chemosphere》1982,11(7):679-685
Sequentially laid eggs of Herring Gulls in Lake Erie and the Detroit River (Ontario) were found to contain increasingly higher levels of organochlorine contaminants. The reason for this was not determined but a depletion of lipid pools during the egg laying period and a rapid equilibrium between body and egg burdens may explain the results. It is recommended that, for long term toxic residue monitoring, eggs at the same position in the order of laying be taken from all sampled clutches. 相似文献
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Tradescantia micronucleus test indicates genotoxic potential of traffic emissions in European cities
Klumpp A Ansel W Klumpp G Calatayud V Garrec JP He S Peñuelas J Ribas A Ro-Poulsen H Rasmussen S Sanz MJ Vergne P 《Environmental pollution (Barking, Essex : 1987)》2006,139(3):515-522
Urban atmospheres contain complex mixtures of air pollutants including mutagenic and carcinogenic substances such as benzene, diesel soot, heavy metals and polycyclic aromatic hydrocarbons. In the frame of a European network for the assessment of air quality by the use of bioindicator plants, the Tradescantia micronucleus (Trad-MCN) test was applied to examine the genotoxicity of urban air pollution. Cuttings of Tradescantia clone #4430 were exposed to ambient air at 65 monitoring sites in 10 conurbations employing a standardised methodology. The tests revealed an elevated genotoxic potential mainly at those urban sites which were exposed to severe car traffic emissions. This bioassay proved to be a suitable tool to detect local 'hot spots' of mutagenic air pollution in urban areas. For its use in routine monitoring programmes, however, further standardisation of cultivation and exposure techniques is recommended in order to reduce the variability of results due to varying environmental conditions. 相似文献