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排序方式: 共有145条查询结果,搜索用时 46 毫秒
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Laki J Kiszel P Vatay A Blaskó B Kovács M Körner A Madácsy L Blatniczky L Almássy Z Szalai C Rajczy K Pozsonyi E Karádi I Fazakas A Hosszúfalusi N Pánczél P Arason GJ Wu YL Zhou B Yang Y Yu CY Füst G 《Molecular immunology》2007,44(4):648-655
Previously we reported on strong linkage disequilibrium (LD) between the mono-S-C4B-RCCX module (mono-S) and the TNF2 allele (both known constituents of the 8.1 ancestral haplotype (8.1 AH)) in two Caucasian populations. The gene for the receptor of advanced glycation endproducts (RAGE) is encoded between the RCCX module and the HLA class II genes in the central MHC region. In order to assess the relationship between the promoter polymorphisms of the RAGE gene and the 8.1 AH, we performed a family study in eight informative families affected with type 1 diabetes mellitus; haplotypes of a RAGE promoter SNP (-429T>C) with the HLA-DQ2, -DR-3(17) and TNF2 alleles, as well as the mono-S genotype were determined. A similar analysis was performed in 82 unrelated patients with type 1 diabetes mellitus, and in unrelated healthy individuals of three different Caucasian populations (Hungarians, Ohioian females, Icelandics). In the diabetic patients clinical correlations were also investigated. Out of the 32 paternal and maternal chromosome 6 from the eight families, 15 different MHC haplotypes were found. Haplotypes containing at least three of the known constituents of the 8.1 AH (HLA-DQ2, -DR17, mono-S, TNF2) were always linked to the RAGE -429C allele. The RAGE -429C allele exhibited highly significant (p<0.0001) LD coefficients to known constituents of the 8.1 AH both in healthy persons and patients with type 1 diabetes. In the group of patients with diabetes we found significantly (p=0.013) higher maximal hemoglobinA1C concentration in the carriers of the RAGE -429C allele, this trait, however was not linked to the 8.1 AH. Our present findings indicate that the RAGE -429C allele can be considered as a candidate member of the 8.1 AH. The results also reveal a spectrum of recombinant MHC haplotypes in addition to the conserved ancestral haplotypes. 相似文献
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Kiss Norbert Fésűs Luca Bozsányi Szabolcs Szeri Flóra Van Gils Matthias Szabó Viktória Nagy Anikó Ilona Hidvégi Bernadett Szipőcs Róbert Martin Ludovic Vanakker Olivier Arányi Tamás Merkely Béla Wikonkál Norbert M. Medvecz Márta 《Lasers in medical science》2020,35(8):1821-1830
Lasers in Medical Science - Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare autosomal recessive disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by... 相似文献
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Streptococcus pneumoniae worsens cerebral ischemia via interleukin 1 and platelet glycoprotein Ibα
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Ádám Dénes PhD Jesus M. Pradillo PhD Caroline Drake PhD Andrew Sharp PhD Peter Warn PhD Katie N. Murray MSc Bazaz Rohit PhD David H. Dockrell PhD Janet Chamberlain PhD Helen Casbolt PhD Sheila Francis PhD Bernadett Martinecz MSc Bernhard Nieswandt PhD Nancy J. Rothwell PhD Stuart M. Allan PhD 《Annals of neurology》2014,75(5):670-683
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Arno Kornberg Bernadett Küpper Andrea Tannapfel Katharina Thrum Erik Brthel Utz Settmacher 《Liver international》2006,26(7):811-816
Abstract: Background: The aim of this study was to evaluate the clinical long‐term consequences of antiviral treatment discontinuation in viremic hepatitis C virus (HCV)‐positive liver transplant recipients. Methods: Twenty‐five HCV‐positive patients after liver transplantation were included in this study. After diagnosing recurrent hepatitis C, a combination therapy with interferon‐α2b and ribavirin for a minimum of 12 months was initiated. Viremia levels and allograft function were monitored continuously. Allograft biopsies were performed yearly, analyzing grading of inflammation and staging of fibrosis. Results: HCV recurrence rate was 100%. Up to 114 months post‐transplantation, sustained virological response rate was 64%. Treatment discontinuation in virological nonresponders led subsequently to a significant increase of viral loads and deterioration of allograft function (P<0.05) within 1 month. In three patients, a fibrosing cholestatic syndrome developed, resulting in one patient death. Antiviral retherapy was maintained for a mean of 33 months, leading to a significant decline of aminotransferases (P<0.05) as well as decreasing serum levels of bilirubin and HCV‐RNA within 6 months. In addition, development of severe allograft fibrosis was prevented despite persistent viral loads. Conclusion: Our study suggests that antiviral treatment withdrawal carries the risk of severe disease progression in persistently viremic HCV‐positive liver transplant patients. 相似文献
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The effect of neonatal nerve injury on the expression of heat shock proteins in developing rat motoneurones 总被引:5,自引:0,他引:5
The expression of the heat shock proteins hsp27 and hsp70 was examined in the spinal cord and sciatic nerves of developing rats. Using immunohistochemistry, we found that hsp27 is present in many motoneurones at birth. With development, the intensity of staining increases, reaching adult levels by 21 days, when all sciatic motoneurones express hsp27. In the sciatic nerve, hsp27 is strongly expressed throughout postnatal development. In contrast, hsp70 immunoreactivity in motoneurones and the sciatic nerve is weak at birth and does not change with development. The expression of heat shock proteins has been shown to increase in cells under conditions of stress, where they have beneficial effects on cell survival. The effect of neonatal nerve injury on hsp27 and hsp70 expression was also examined in this study. Four days after injury, staining for hsp27 increases in motoneurones, whereas hsp70 does not change. However, there is a significant increase in hsp70 staining in glial cells surrounding the injured motor pool, predominantly in astrocytes. Since neonatal nerve injury induces apoptotic motoneurone death, we also studied the co-expression of hsp27 with markers of apoptosis. No hsp27-positive motoneurones were found to be apoptotic, as assessed by both TUNEL and caspase-3 immunoreactivity. Therefore, it is possible that the upregulation of hsp27 observed in injured motoneurones may play a role in protecting motoneurones from apoptotic cell death following nerve injury. 相似文献
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SIRT1/HERC4 Locus Associated With Bisphosphonate‐Induced Osteonecrosis of the Jaw: An Exome‐Wide Association Analysis
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Joseph Katz Alberto Riva Peter Lakatos Bernadett Balla Janos Kosa Mihaly Vaszilko Gian Andrea Pelliccioni Noa Davis Taimour Y Langaee Jan S Moreb Yan Gong 《Journal of bone and mineral research》2018,33(1):91-98
Osteonecrosis of the jaw (ONJ) is a rare, but serious drug side effect, mainly associated with the use of intravenous (iv) bisphosphonates (BPs). The purpose of this study was to identify genetic variants associated with ONJ in patients of European ancestry treated with iv BPs using whole‐exome sequencing (WES). The WES phase 1 included 44 multiple myeloma patients (22 ONJ cases and 22 controls) and WES phase 2 included 17 ONJ patients with solid tumors. Multivariable logistic regression analysis was performed to estimate the odds ratios (ORs) and 95% confidence intervals (CI), adjusting for age, sex, and principal components for ancestry. Meta‐analysis of WES phase 1 and 2 was performed to estimate the combined ORs. In silico analyses were then performed to identify expression quantitative loci (eQTL) single‐nucleotide polymorphisms (SNPs) that are in high linkage disequilibrium (LD) with the top SNPs. The associations of the potentially functional SNPs were replicated and validated in an independent case‐control study of 48 patients of European ancestry treated with iv BPs (19 ONJ cases and 29 controls). The top SNPs in the exome‐wide association meta‐analysis were two SNPs on chromosome 10: SIRT1 SNP rs7896005 and HERC4 SNP rs3758392 with identical OR of 0.07 (0.01–0.46; p = 3.83 × 10?5). In the in silico functional analyses, two promoter region SNPs (rs7894483 and rs3758391) were identified to be in high LD with the index SNPs and are eQTLs for SIRT1 gene in whole blood in the GTEx database. The ORs were 0.30 (0.10–0.88), 0.26 (0.12–0.55), and 0.26 (0.12–0.55) for the WES top SNP rs7896005 and two promoter SNPs rs7894483 and rs3758391, respectively, in the replication sample. In summary, we identified the SIRT1/HERC4 locus on chromosome 10 to be associated with iv BP‐induced ONJ and two promoter SNPs that might be the potential genetic markers for this association. © 2017 The Authors.Journal of Bone and Mineral Research Published by Wiley Periodicals Inc. 相似文献
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Functional Variants of Glucokinase Regulatory Protein and Apolipoprotein A5 Genes in Ischemic Stroke
Luca Járomi Veronika Csöngei Noémi Polgár Zoltán Szolnoki Anita Maász Katalin Horvatovich Bernadett Faragó Csilla Sipeky Enikő Sáfrány Lili Magyari Péter Kisfali Márton Mohás Ingrid Janicsek Lilla Lakner Béla Melegh 《Journal of molecular neuroscience : MN》2010,41(1):121-128
Both the natural variants of the apolipoprotein A5 (APOA5) and the glucokinase regulatory protein gene (GCKR) have been shown to associate with increased fasting triglyceride levels. Here, we investigated the possible association of the functional variants of these two genes with non-fasting triglyceride levels and their susceptibility nature in ischemic stroke. A total of 513 stroke patients and 172 healthy controls were genotyped. All the APOA5 variants (T-1131C, IVS3?+?G476A, C56G, and T1259C) were associated with increased triglyceride levels in all stroke patients and controls; except for T1259C, they all conferred risk for the disease. No such association was found for the examined GCKR rs1260326 (C1337T) variant. Furthermore, we examined the effects of specific combinations of the GCKR rs1260326 and APOA5 polymorphisms. Our findings confirmed the previous results regarding the association of APOA5 variants with triglyceride-level increase and stroke susceptibility of these alleles. By contrast, we could not detect any association of the studied GCKR allele with triglyceride levels or with the susceptibility of stroke in the same cohort of patients. In addition, the effect of APOA5 did not change significantly when specific combinations of the two genes were present. 相似文献
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