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排序方式: 共有108条查询结果,搜索用时 31 毫秒
1.
Olivier Cohen Christine Cans Jean Louis Gilardi Hubert Roth Marie-Ange Mermet Pierre Jalbert Jacques Demongeot Martine Cuillel 《Human genetics》1996,97(5):659-667
Reciprocal translocations (rcp) are among the most common constitutional chromosomal aberrations in man. Using a European
database of 1574 families carrying autosomal rcp, a cartographic study was done on the breakpoints involved. The breakpoints
are non-randomly distributed along the different chromosomes, indicating “hot spots”. Breakpoints of rcp that result in descendants
that are unbalanced chromosomally at birth are more frequent in a distal position on chromosomal arms, and 65% of them are
localised in R-bands. Among the R-bands, bands rich in GC islands and poor in Alu repetitive sequences are more frequently
the site of breakpoints, as well as bands that include a fragile site. This result suggests that the variation in degree of
methylation in GC islands could be involved in chromosomal breakage and hence in chromosomal rearrangements.
Received: 10 April 1995 / Revised: 1 July 1995 相似文献
2.
Christine Cans Olivier Cohen Marie-Ange Mermet Jacques Demongeot Pierre Jalbert 《Human genetics》1993,91(3):228-232
Two methods of prediction for the risk of unbalance at birth were tested on a large data base of reciprocal translocation (1376 families): the pachyten diagram predictive method (PDPmethod) and the discriminant method (Dmethod). These method succeeded in correctly predicting the segregation mode in 66% of the data for the PDPmethod and in 80% of the data for the Dmethod. The quality of chromosome material (in particular R bands) must be taken into account for more accurate prediction. Some difficulties still exist in predicting the 31 tertiary segregation mode, which can frequently be incorrectly classified as the adjacent 1 mode. 相似文献
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We have used data from chromosomally unbalanced offspring observed at birth, as well as data from sperm chromosome analysis, to study the meiotic segregation of reciprocal translocations. Using data from a total of 1,597 unbalanced children, we have observed an excess in maternal origin for all modes of imbalance. This excess is particularly marked for the 3:1 unbalanced mode, for which we have also observed a maternal age effect, indicating a close relationship with autosomal trisomies. In addition, a statistical analysis of data from 34 different published studies using sperm chromosome analysis has demonstrated that factors which, for reasons of viability, produce a predisposition for a particular mode of imbalance at birth also appear to favor meiotic production of this type of imbalance. Thus the production of unbalanced gametes of a particular type is influenced by the size of the imbalance. 相似文献
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Audrey Coreau Sébastien Treyer Pierre‐Olivier Cheptou John D. Thompson Laurent Mermet 《Oikos》2010,119(8):1364-1376
In a mainly experimental science based traditionally on hypothesis testing such as ecology, studying futures may be difficult. However, in the last few decades, predicting the consequences of global changes on the dynamics and function of ecological systems has become a major challenge in ecological research. To study how ecological scientists deal with potential difficulties in studying futures, we adopted a reflexive viewpoint on how scientists address the study of ecological futures. To do so we questioned a panel of ecological scientists on their practical involvement and point of view. Quantitative and qualitative analyses of their responses showed that predictions or predictive models were the dominant theme. Many quantitative models, based on statistical correlations, empirical rules or processes have been developed and their methodological limitations explored by the researchers we interviewed. In a small proportion of studies, qualitative scenarios have been elaborated to explore the range of possible futures. Interviewees emphasized the problem of dealing with ecological complexity and multiple future possibilities. Specificities of futures compared to past or present events were not fully identified. In fact, researchers studying futures mainly adopted a reductionist approach, trying to simplify complex ecological systems. But methods and tools promoted by such an approach to science may not always be appropriate to deal with future ecological complexity. Indeed, an emphasis on prediction prevents ecologists from acknowledging the multiplicity and undetermined nature of futures. 相似文献
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Vitale S Schmid-Alliana A Breuil V Pomeranz M Millet MA Rossi B Schmid-Antomarchi H 《Journal of immunology (Baltimore, Md. : 1950)》2004,172(1):585-592
In this study, we address the question of the cross-talk between two chemokines that are cosecreted during inflammation, namely monocyte chemoattractant protein-1 (MCP-1) and soluble fractalkine (s-FKN), toward monocyte migration. We found that s-FKN fails to induce MonoMac6 cell migration per se. Interestingly, this chemokine antagonizes transendothelial migration and chemotaxis of MonoMac6 cells and freshly isolated human monocytes induced by MCP-1, indicating a direct effect of s-FKN on monocytic cells. In this study, we found that stress-activated protein kinase (SAPK)1/c-Jun N-terminal kinase 1 and SAPK2/p38 are involved in the control of MCP-1-induced MonoMac6 cell migration. We demonstrated that s-FKN abrogates the MCP-1-induced SAPK2/p38 activation as well as the upstream Pyk2 activity. Furthermore, we observed that s-FKN also inhibits the activity of a major matrix metalloproteinase (MMP), namely MMP-2. Taken collectively, our results indicate that the s-FKN antagonizes the chemoattractant effect of MCP-1 on monocytes, likely by inhibiting crucial signaling pathways, like SAPK2/p38 and MMP-2 activities. 相似文献
9.
Rohfritsch PF Joosten JA Krzewinski-Recchi MA Harduin-Lepers A Laporte B Juliant S Cerutti M Delannoy P Vliegenthart JF Kamerling JP 《Biochimica et biophysica acta》2006,1760(4):685-692
The acceptor specificities of ST3Gal III, ST3Gal IV, ST6Gal I and ST6Gal II were investigated using a panel of beta-D-Galp-(1-->4)-beta-D-GlcpNAc-(1-->2)-alpha-D-Manp-(1-->O)(CH(2))(7)CH(3) analogues. Modifications introduced at either C2, C3, C4, C5, or C6 of terminal D-Gal, as well as N-propionylation instead of N-acetylation of subterminal D-GlcN were tested for their influence on the alpha-2,3- and alpha-2,6-sialyltransferase acceptor activities. Both ST3Gal enzymes displayed the same narrow acceptor specificity, and only accept reduction of the Gal C2 hydroxyl function. The ST6Gal enzymes, however, do not have the same acceptor specificity. ST6Gal II seems less tolerant towards modifications at Gal C3 and C4 than ST6Gal I, and prefers beta-D-GalpNAc-(1-->4)-beta-D-GlcpNAc (LacdiNAc) as an acceptor substrate, as shown by replacing the Gal C2 hydroxyl group with an N-acetyl function. Finally, a particularly striking feature of all tested sialyltransferases is the activating effect of replacing the N-acetyl function of subterminal GlcNAc by an N-propionyl function. 相似文献
10.
Mayssa Nassour Ysia Idoux-Gillet Abdelkader Selmi Christophe C?me Maria-Luisa M. Faraldo Marie-Ange Deugnier Pierre Savagner 《PloS one》2012,7(12)