全文获取类型
收费全文 | 143篇 |
免费 | 6篇 |
国内免费 | 6篇 |
专业分类
儿科学 | 14篇 |
妇产科学 | 1篇 |
基础医学 | 10篇 |
口腔科学 | 8篇 |
临床医学 | 17篇 |
内科学 | 45篇 |
皮肤病学 | 3篇 |
神经病学 | 4篇 |
特种医学 | 36篇 |
外科学 | 2篇 |
综合类 | 4篇 |
预防医学 | 3篇 |
眼科学 | 1篇 |
药学 | 3篇 |
肿瘤学 | 4篇 |
出版年
2019年 | 2篇 |
2016年 | 1篇 |
2015年 | 3篇 |
2013年 | 2篇 |
2011年 | 1篇 |
2010年 | 2篇 |
2009年 | 5篇 |
2008年 | 5篇 |
2007年 | 6篇 |
2006年 | 2篇 |
2005年 | 1篇 |
2004年 | 2篇 |
2003年 | 3篇 |
2001年 | 1篇 |
2000年 | 2篇 |
1999年 | 3篇 |
1998年 | 10篇 |
1997年 | 11篇 |
1996年 | 5篇 |
1995年 | 5篇 |
1994年 | 4篇 |
1993年 | 5篇 |
1992年 | 1篇 |
1991年 | 2篇 |
1990年 | 3篇 |
1989年 | 5篇 |
1988年 | 7篇 |
1987年 | 5篇 |
1986年 | 6篇 |
1985年 | 3篇 |
1984年 | 2篇 |
1983年 | 3篇 |
1982年 | 2篇 |
1981年 | 1篇 |
1980年 | 1篇 |
1978年 | 1篇 |
1977年 | 2篇 |
1976年 | 1篇 |
1975年 | 3篇 |
1973年 | 2篇 |
1972年 | 1篇 |
1959年 | 4篇 |
1958年 | 4篇 |
1957年 | 1篇 |
1955年 | 3篇 |
1954年 | 3篇 |
1952年 | 1篇 |
1949年 | 2篇 |
1948年 | 3篇 |
1947年 | 1篇 |
排序方式: 共有155条查询结果,搜索用时 0 毫秒
1.
Gene conversion is a likely cause of mutation in PKD1 总被引:3,自引:0,他引:3
Watnick TJ; Gandolph MA; Weber H; Neumann HP; Germino GG 《Human molecular genetics》1998,7(8):1239-1243
Approximately 70% of the gene responsible for the most common form of
autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in
several highly homologous copies located more proximally on chromosome 16.
We recently have described a novel technique for mutation detection in the
duplicated region of PKD1 that circumvents the difficulties posed by these
homologs. We have used this method to identify two patients with a nearly
identical cluster of base pair substitutions in exon 23. Since pseudogenes
are known to be reservoirs for mutation via gene conversion events for a
number of other diseases, we decided to test whether these sequence
differences in PKD1 could have arisen as a result of this mechanism. Using
changes in restriction digest patterns, we were able to show that these
sequence substitutions are also present in N23HA, a rodent-human somatic
cell hybrid that contains only the PKD1 homologs. Moreover, these changes
were also detected in total DNA from several affected and unaffected
individuals that did not harbor this mutation in their PKD1 gene copy. This
is the first example of gene conversion in PKD1 , and our findings
highlight the importance of using gene-specific reagents in defining PKD1
mutations.
相似文献
2.
3.
BACKGROUND & AIMS: Shwachman syndrome is an inherited condition with multisystemic abnormalities, including exocrine pancreatic dysfunction. The aim of this study was to evaluate the occurrence and progression of features in a large cohort of patients. METHODS: Clinical records of 25 patients with Shwachman syndrome were reviewed. RESULTS: Mean birth weight (2.92 +/- 0.51 kg) was at the 25th percentile. However, by 6 months of age, mean heights and weights were less than the 5th percentile. After 6 months of age, growth velocity was normal. Severe fat maldigestion due to pancreatic insufficiency was present in early life (fecal fat, 26% +/- 17% of fat intake; age, < 2 years). Serial assessment of exocrine pancreatic function showed persistent deficits of enzyme secretion, but 45% of patients showed moderate age-related improvements leading to pancreatic sufficiency. Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. Patients with hypoplasia of all three bone marrow cellular lines (n = 11) had the worst prognosis; 5 patients died, 2 of sepsis and 3 of acute myelogenous leukemia. Other findings included hepatomegaly and/or abnormal liver function test results and skeletal abnormalities. CONCLUSIONS: A wide and varied spectrum of phenotypic abnormalities among patients with Shwachman syndrome is described. Pancreatic acinar dysfunction is an invariable abnormality. Patients with severe bone marrow involvement may have a guarded prognosis. (Gastroenterology 1996 Dec;111(6):1593-602) 相似文献
4.
Prostaglandin E2 (PGE2) is produced by activated platelets and by several other cells, including capillary endothelial cells. PGE2 exerts a dual effect on platelet aggregation: inhibitory, at high, supraphysiologic concentrations, and potentiating, at low concentrations. No information exists on the biochemical mechanisms through which PGE2 exerts its proaggregatory effect on human platelets. We have evaluated the activity of PGE2 on human platelets and have analyzed the second messenger pathways involved. PGE2 (5 to 500 nmol/L) significantly enhanced aggregation induced by subthreshold concentrations of U46619, thrombin, adenosine diphosphate (ADP), and phorbol 12-myristate 13-acetate (PMA) without simultaneously increasing calcium transients. At a high concentration (50 mumol/L), PGE2 inhibited both aggregation and calcium movements. PGE2 (5 to 500 nmol/L) significantly enhanced secretion of beta-thromboglobulin (beta TG) and adenosine triphosphate from U46619- and ADP-stimulated platelets, but it did not affect platelet shape change. PGE2 also increased the binding of radiolabeled fibrinogen to the platelet surface and increased the phosphorylation of the 47-kD protein in 32P- labeled platelets stimulated with subthreshold doses of U46619. Finally, the amplification of U46619-induced aggregation by PGE2 (500 nmol/L) was abolished by four different protein kinase C (PKC) inhibitors (calphostin C, staurosporine, H7, and TMB8). Our results suggest that PGE2 exerts its facilitating activity on agonist-induced platelet activation by priming PKC to activation by other agonists. PGE2 potentiates platelet activation at concentrations produced by activated platelets and may thus be of pathophysiologic relevance. 相似文献
5.
Interleukin-6 enhances growth factor-dependent proliferation of the blast cells of acute myeloblastic leukemia 总被引:7,自引:0,他引:7
The effects of recombinant interleukin-6 (IL-6) on the proliferation of blast precursors present in the peripheral blood of patients with acute myeloblastic leukemia (AML) was investigated. IL-6 had little effect by itself; however, it synergized with granulocyte macrophage colony- stimulating factor (GM-CSF) and interleukin-3 (IL-3) in the stimulation of AML blast colony formation. Responsiveness of blast progenitors to IL-6 was heterogeneous. On normal bone marrow cells the same synergy was observed on granulocyte and monocyte precursors (GM-CFC), while there was no significant effect on erythroid and multipotential precursors. 相似文献
6.
Background: The purpose of the present paper was to examine the attitudes and experiences of reporting child abuse and neglect among primary care and hospital‐based physicians and to study the responses of physicians and medical students to case vignettes suggestive of possible physical abuse or neglect. Methods: Physicians at the child health centers in Göteborg primary care (n= 44) and the general pediatricians at the pediatric hospital (n= 21) in Göteborg answered a questionnaire regarding their attitude and experiences reporting child abuse and neglect. The physicians and medical students (n= 34) responded to three case vignettes in which child abuse and neglect could be suspected. Results: A majority of the physicians had reported child abuse and neglect to the social services (80%). No differences were found between primary care and hospital‐based physicians in terms of reporting or attitudes. Two‐thirds of the physicians had suspected child abuse and neglect and decided not to report, and the major reason for not reporting was a lack of confidence in social services organization. Twenty‐one percent had never reported a child for abuse or neglect during their working career. Medical students were more likely to report hypothetical cases than physicians. Conclusion: Many physicians have reported child abuse to social services but also have neglected to do so even when suspecting abuse. It is important that medical students’ willingness to report is continued when starting to work clinically and that all physicians should be continuously educated. 相似文献
7.
8.
We studied cardiovascular risk factors in 21 young men who were habitual snuff-users, and compared them with the same risk factors in 18 non-tobacco-users and 19 cigarette smokers of the same age and body mass index. Both snuff-users and smokers showed increased levels of alcohol and coffee consumption and a decreased level of physical exercise compared to non-users. Both groups of tobacco-users showed increased serum insulin levels compared to the control group at similar blood glucose concentrations. In contrast to the smokers, snuff-users showed no significant elevation of diastolic blood pressure, haemoglobin concentrations, white cell count, serum cholesterol or triglyceride levels. Snuff users had higher plasma fibrinogen levels than non-users (P = 0.07). The use of snuff by young men appears to have less impact than smoking on cardiovascular risk factors, with the possible exception of elevated serum insulin and plasma fibrinogen levels. 相似文献
9.
Digital imaging of the chest 总被引:4,自引:0,他引:4
Fraser RG; Sanders C; Barnes GT; MacMahon H; Giger ML; Doi K; Templeton AW; Cox GG; Dwyer SJ d; Merritt CR 《Radiology》1989,171(2):297-307
During the past several years, image acquisition in nuclear medicine, computed tomography, ultrasonography, subtraction angiography, and magnetic resonance has been by digitization. Despite these advances, research in the development of digital imaging in conventional radiography has lagged behind. Although studies with a variety of digital techniques have been carried out on several fronts, we still do not possess a method that has captured the imagination of the majority of radiologists and other physicians to a point where it could replace conventional screen-film imaging. This article reviews the current status and general principles of the technology, focusing on the four digital radiographic techniques that have shown the greatest promise - film digitization, an image intensifier - based system, photostimulable phosphor plates, and a scanned projection system. The physical aspects of each of the four systems and the clinical results that have been reported to date, as well as the advantages and disadvantages of each system, are presented. 相似文献
10.
Coxon RE; Fekade D; Knox K; Hussein K; Melka A; Daniel A; Griffin GG; Warrell DA 《QJM : monthly journal of the Association of Physicians》1997,90(3):213-221
Severe Jarisch Herxheimer reaction (J-HR) precipitated by antibiotic
treatment of louse-borne relapsing fever (LBRF) is associated with a
transient, marked rise in circulating tumour necrosis factor alpha (TNF
alpha), interleukin 6 (IL-6) and interleukin 8 (IL-8). Ovine polyclonal
anti-TNF alpha antibody fragments (Fab) were used in a randomized double
blind placebo controlled trial in an attempt to prevent this reaction.
Within 4 h after penicillin, in controls (n = 29), a several- fold rise in
cytokines occurred, concomitant with a fall in spirochaetes and maximal
clinical manifestations of the J-HR. An intravenous infusion of anti-TNF
alpha Fab, 30 min before penicillin in 20 patients reduced peak plasma
levels of IL-6 and IL-8 (but not IL-1 beta) compared with controls (p =
0.01 and < 0.001, respectively) and the incidence of the J-HR,
indicating some neutralization of TNF alpha. An apparent fall in TNF alpha
reflected interference of anti-TNF alpha in the immunoassay.
相似文献