全文获取类型
收费全文 | 119篇 |
免费 | 8篇 |
出版年
2017年 | 5篇 |
2016年 | 1篇 |
2015年 | 5篇 |
2014年 | 5篇 |
2013年 | 4篇 |
2012年 | 6篇 |
2011年 | 5篇 |
2010年 | 4篇 |
2009年 | 3篇 |
2008年 | 7篇 |
2007年 | 12篇 |
2006年 | 7篇 |
2005年 | 3篇 |
2004年 | 2篇 |
2003年 | 2篇 |
2002年 | 2篇 |
2001年 | 3篇 |
2000年 | 7篇 |
1999年 | 4篇 |
1998年 | 4篇 |
1997年 | 2篇 |
1996年 | 1篇 |
1995年 | 1篇 |
1994年 | 2篇 |
1993年 | 1篇 |
1992年 | 2篇 |
1991年 | 1篇 |
1990年 | 3篇 |
1989年 | 2篇 |
1988年 | 3篇 |
1986年 | 1篇 |
1984年 | 2篇 |
1983年 | 1篇 |
1982年 | 2篇 |
1979年 | 1篇 |
1977年 | 1篇 |
1976年 | 2篇 |
1975年 | 1篇 |
1974年 | 4篇 |
1971年 | 2篇 |
1961年 | 1篇 |
排序方式: 共有127条查询结果,搜索用时 15 毫秒
1.
2.
A. P. Read R. V. Thakker K. E. Davies R. C. Mountford D. P. Brenton M. Davies F. Glorieux R. Harris G. N. Hendy A. King S. McGlade C. J. Peacock R. Smith J. L. H. O'Riordan 《Human genetics》1986,73(3):267-270
Summary Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously been located at Xp22.31-p21.3 by in situ hybridisation. In the mouse hypophosphataemia (Hyp) maps to the distal part of the X chromosome; our location in man is consistent with a scheme which relates the mouse and human X chromosomes by two rearrangements. No marker has yet been found which shows no recombination with HPDR. 相似文献
3.
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. 总被引:113,自引:0,他引:113
S H Cheng R J Gregory J Marshall S Paul D W Souza G A White C R O'Riordan A E Smith 《Cell》1990,63(4):827-834
The gene associated with cystic fibrosis (CF) encodes a membrane-associated, N-linked glycoprotein called CFTR. Mutations were introduced into CFTR at residues known to be altered in CF chromosomes and in residues believed to play a role in its function. Examination of the various mutant proteins in COS-7 cells indicated that mature, fully glycosylated CFTR was absent from cells containing delta F508, delta 1507, K464M, F508R, and S5491 cDNA plasmids. Instead, an incompletely glycosylated version of the protein was detected. We propose that the mutant versions of CFTR are recognized as abnormal and remain incompletely processed in the endoplasmic reticulum where they are subsequently degraded. Since mutations with this phenotype represent at least 70% of known CF chromosomes, we argue that the molecular basis of most cystic fibrosis is the absence of mature CFTR at the correct cellular location. 相似文献
4.
P. S. N. Rowe J. Goulding A. Read H. Lehrach F. Francis A. Hanauer C. Oudet V. Biancalana S. W. Kooh K. E. Davies J. L. H. O'Riordan 《Human genetics》1994,93(3):291-294
An analysis of five of the most common cystic fibrosis (CF) mutations worldwide (F-508, R-553X, G-551D, N-1303K and G-542X) was performed in 36 Chilean patients. Polymerase chain reaction (PCR) amplification of the DNA followed by allele specific restriction enzyme analysis was used for detection. The overall frequencies of the mutations in the chromosomes analyzed were 29.2% for F-508 and 4.2% for R-553X (n=72). The G-542X, G-551D and N-1303 K mutations were absent in the Chilean sample. Our data suggest however that F-508 is not the most common CF mutation in Chilean patients. F-508 and R-553X account for only 33.4% of the alleles; 66.6% of them do not respond to the probes used and still remain uncharacterized. 相似文献
5.
Nineteen Zambian patients with the tropical splenomegaly syndrome and sinusoidal lymphocytosis on liver biopsy were studied. The association of macrobulinaemia with the tropical splenomegaly syndrome has again been confirmed. Sixteen patients were treated with antimalarials—12 with cycloguanil pamoate alone, 3 with cycloguanil and proguanil, and 1 with proguanil alone. Twelve patients were observed for periods of sufficient length for the drug effect to be assessed, and in 11 there was a good response in terms of decrease in spleen size.Cycloguanil pamoate may be of value both for prophylaxis and treatment in areas where tropical splenomegaly syndrome is endemic. 相似文献
6.
7.
D Wang CR Stockard L Harkins P Lott C Salih K Yuan 《Biotechnic & histochemistry》2013,88(3-4):179-189
Angiogenesis, or neovascularization, is known to play an important role in the neoplastic progression leading to metastasis. CD31 or Factor VIII-related antigen (F VIII RAg) immunohistochemistry is widely used in experimental studies for quantifying tumor neovascularization in immunocompromised animal models implanted with transformed human cell lines. Quantification, however, can be affected by variations in the methodology used to measure vascularization including antibody selection, antigen retrieval (AR) pretreatment, and evaluation techniques. To examine this further, we investigated the microvessel density (MVD) and the intensity of microvascular staining among five different human tumor xenografts and a mouse syngeneic tumor using anti-CD31 and F VIII RAg immunohistochemical staining. Different AR methods also were evaluated. Maximal retrieval of CD31 was achieved using 0.5 M Tris (pH 10) buffer, while maximum retrieval of F VIII RAg was achieved using 0.05% pepsin treatment of tissue sections. For each optimized retrieval condition, anti-CD31 highlighted small vessels better than F VIII RAg. Furthermore, the MVD of CD31 was significantly greater than that of F VIII RAg decorated vessels (p<0.001). The choice of antibody and AR method has a significant affect on immunohistochemical findings when studying angiogenesis. One also must use caution when comparing studies in the literature that use different techniques and reagents. 相似文献
8.
9.
Intracellular pathogens replicate in modified vacuolar compartments or in the cytosol of host cells. Many pathogenic bacterial species have evolved to modify the host vacuolar environment, but little is known about the mammalian cytosol as a medium for bacterial growth. Recent studies indicate that the cytosol is restrictive for the growth of bacteria other than cytosolic pathogens in contrast to earlier research that provided evidence that any bacteria with access to the cytosol can replicate there. Comparison of these studies suggests that the cytosolic contents of various host cell types can be differentially permissive for bacterial growth, and that both host and bacterial factors are important in determining the ability of particular bacteria to replicate in the cytosol. 相似文献
10.
Yoon SK Mohr L O'Riordan CR Lachapelle A Armentano D Wands JR 《Biochemical and biophysical research communications》2000,272(2):497-504
We developed a specific adenoviral gene delivery system with monoclonal antibody (mAb) AF-20 that binds to a 180 kDa antigen highly expressed on human hepatocellular carcinoma (HCC) cells. A bifunctional Fab-antibody conjugate (2Hx-2-AF-20) was generated through AF-20 mAb crosslinkage to an anti-hexon antibody Fab fragment. Uptake of adenoviral particles and gene expression was examined in FOCUS HCC and NIH 3T3 cells by immunofluorescence; beta-galactosidase expression levels were determined following competitive inhibition of adenoviral CAR receptor by excess fibre knob protein. The chimeric complex was rapidly internalized at 37 degrees C, and enhanced levels of reporter gene expression was observed in AF-20 antigen positive HCC cells, but not in AF-20 antigen negative NIH 3T3 control cells. Targeting of recombinant adenoviral vectors to a tumor associated antigen by a bifunctional Fab-antibody conjugate is a promising approach to enhance specificity and efficiency of gene delivery to HCC. 相似文献