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排序方式: 共有182条查询结果,搜索用时 15 毫秒
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Renkonen-Sinisalo L Sipponen P Aarnio M Julkunen R Aaltonen LA Sarna S Järvinen HJ Mecklin JP 《Scandinavian journal of gastroenterology》2002,37(5):574-577
BACKGROUND: The DNA mismatch repair gene mutations underlying hereditary non-polyposis colorectal cancer syndrome (HNPCC) also predispose, besides colorectal and endometrial cancer, to gastric cancer. usually of the intestinal type. The carcinogenetic pathway behind the elevated gastric cancer risk is largely unknown. METHODS: The aim of this study was to determine whether there are any premalignant lesions to search for in gastric surveillance in HNPCC by comparing gastric histopathology between mutation-positive and mutation-negative family members. We searched for differences in occurrence of Helicobacter pylori, inflammation, atrophy, intestinal metaplasia and dysplastic changes. Upper gastrointestinal endoscopy was performed for 73 mutation-positive and 32 mutation-negative family members. RESULTS: One case of duodenal cancer was detected in the mutation-positive group, but no gastric neoplastic lesions were seen in either group. There were no differences in the occurrence of polyps, H. pylori, inflammation, activity, atrophy nor intestinal metaplasia tested with binaric, logistic, regression analysis. CONCLUSIONS: We conclude that surveillance gastroscopy may not be beneficial in HNPCC, since neither cases of early cancer nor premalignant lesions could be detected in our series of 73 mutation-positive subjects. 相似文献
3.
Frequency of hereditary nonpolyposis colorectal cancer 总被引:10,自引:0,他引:10
Jukka-Pekka Mecklin M.D. Heikki J. Järvinen M.D. Antti Hakkiluoto M.D. Hannu Hallikas M.D. Kari-Matti Hiltunen M.D. Niilo Härkönen M.D. Ilmo Kellokumpu M.D. Seppo Laitinen M.D. Jari Ovaska M.D. Jukka Tulikoura M.D. Erkki Valkamo M.D. 《Diseases of the colon and rectum》1995,38(6):588-593
PURPOSE: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer syndrome characterized by early onset of colorectal carcinomas (CRC). Recently, two HNPCC genes have been mapped and cloned, one in the short arm of chromosome 2 and another in the short arm of chromosome 3. There has been a major controversy about the frequency of HNPCC. The few estimates available have been based on series selected by age or series representing local area. The purpose of the present study was to design a nonselected, prospective, multicenter study, taking into account the family background and other risk factors of CRC. METHODS: The proportion of HNPCC of all (N=406) CRC cases was evaluated in a prospective multicenter study. Family history and other risk factors were investigated over a 12-month period for all new CRC patients in ten hospitals. These cases constituted 23 percent of all CRCs diagnosed in Finland during the study period. RESULTS: Three (0.7 percent) cases of verified and seven (1.7 percent) cases of suspected HNPCC were identified, following the evaluation of all families with features indicative of susceptibility to cancer. The proportion of identifiable risk factors of CRC was 5.8–7.5 percent (HNPCC, 0.7-2.4 percent; previous CRC, 3.4 percent; ulcerative colitis, 1.0 percent; familial adenomatous polyposis coli, 0.7 percent). CONCLUSION. This prospective multicenter study revealed that the frequency of hereditary colorectal cancer is lower than in some previous studies, when diagnosis is based on extensive pedigree analysis. This result with recent findings of common ancestral founding mutation in Finnish HNPCC families indicates that there may be geographic differences in the occurrence of HNPCC. However, this does not change the fact that identification of HNPCC—perhaps one of the most common inherited diseases identified in humans—has become a question of vital importance now when diagnosis of the syndrome and largescale screening of gene carriers using specific tests are on the horizon.Supported by grants from the Finnish Cancer Society, the Finnish Foundation for Gastroenterological Research, the Sigrid Juselius Foundation, and the Academy of Finland, Helsinki, Finland. 相似文献
4.
Jukka-Pekka Mecklin M.D. Pentti Sipponen M.D. Dr. Heikki J. Järvinen M.D. 《Diseases of the colon and rectum》1986,29(12):849-853
Seventy-five colorectal carcinoma patients (100 separate cancers) with verified cancer family syndrome were re-examined for
the evaluation of histologic characteristics in carcinomas and adenomatous polyps in this inherited syndrome in a comparison
with control patients with colorectal carcinoma but no hereditary background. In the cancer family syndrome group there were
significantly more mucinous carcinomas (35 to 39 percent vs. 20 percent;P<0.05–0.01), and also more poorly differentiated tumors (24 vs. 12 percent) than in the control group. The differences could
not be explained by the site or stage of the tumors or by the age or sex of the patients. Additional adenomas occurred quite
often both in cancer family syndrome patients (19 percent) and in the controls (16 percent). In the cancer family syndrome
group, however, there were more adenomas with moderate or severe dysplasia (P<0.01) and more adenomas with villous features (P<0.05) than in the control group. Mucinous histologic features in colorectal carcinoma, although not fully specific, might
be characteristic of cancer family syndrome, and thus serve as one sign in the indentification of the syndrome. The presence
of the adenoma-carcinoma sequence in cancer family syndrome also was supported, and the histologic aggressivity of the associated
adenomas might signify an accelerated advancement of this phenomenon in cancer family syndrome.
Supported by the Finnish Cancer Foundation. 相似文献
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Aktan-Collan K Haukkala A Pylvänäinen K Järvinen HJ Aaltonen LA Peltomäki P Rantanen E Kääriäinen H Mecklin JP 《Journal of medical genetics》2007,44(11):732-738
Background
Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention in the family. Probands are traditionally left to inform their relatives about the increased risk, but distant relatives may remain uninformed. An approach to contacting directly at‐risk persons assumed to be unaware of their increased cancer risk was taken. With cancer prevention as the ultimate goal, the study was aimed at investigating attitudes towards and psychosocial consequences of this novel strategy.Methods
In families with hereditary non‐polyposis colorectal cancer (Lynch syndrome), 286 healthy adult relatives with a 50% risk of a predisposing mutation were contacted by letter. Of these, 112 participated in counselling and predictive testing. Baseline information and information obtained 1 month after the test for 73 respondents were compared with 299 corresponding subjects, approached via the proband (family‐mediated approach in our previous study) in these families.Results
After the contact letter, 51% consented to the study. Of these, 92% approved of the direct contact and 33% had tried to seek information. In 34% of the mutation carriers, neoplasia was identified in the first post‐test colonoscopy. Although post‐test fear of cancer increased among the mutation carriers and decreased among noncarriers, almost all participants were satisfied with their decision to participate, independently of their test results, parallel to the family‐mediated approach.Conclusion
In this large‐scale study, relatives in cancer families were actively contacted to inform them of the condition and genetic counselling. Their attitudes were encouraging, and the psychosocial consequences were similar to the family‐mediated approach. Our results suggest the appropriateness of direct contact as an alternative method of contact in cases of life‐threatening treatable disease. 相似文献7.
Susanne Jauhiainen Andrew J. Pohl Sami Äyrämö Jukka-Pekka Kauppi Reed Ferber 《Scandinavian journal of medicine & science in sports》2020,30(4):732-740
Previous studies have suggested that runners can be subgrouped based on homogeneous gait patterns; however, no previous study has assessed the presence of such subgroups in a population of individuals across a wide variety of injuries. Therefore, the purpose of this study was to assess whether distinct subgroups with homogeneous running patterns can be identified among a large group of injured and healthy runners and whether identified subgroups are associated with specific injury location. Three-dimensional kinematic data from 291 injured and healthy runners, representing both sexes and a wide range of ages (10-66 years), were clustered using hierarchical cluster analysis. Cluster analysis revealed five distinct subgroups from the data. Kinematic differences between the subgroups were compared using one-way analysis of variance (ANOVA). Against our hypothesis, runners with the same injury types did not cluster together, but the distribution of different injuries within subgroups was similar across the entire sample. These results suggest that homogeneous gait patterns exist independent of injury location and that it is important to consider these underlying patterns when planning injury prevention or rehabilitation strategies. 相似文献
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Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors 总被引:5,自引:0,他引:5 下载免费PDF全文
Lehtonen R Kiuru M Vanharanta S Sjöberg J Aaltonen LM Aittomäki K Arola J Butzow R Eng C Husgafvel-Pursiainen K Isola J Järvinen H Koivisto P Mecklin JP Peltomäki P Salovaara R Wasenius VM Karhu A Launonen V Nupponen NN Aaltonen LA 《The American journal of pathology》2004,164(1):17-22
Germline mutations in the fumarate hydratase (FH) gene at 1q43 predispose to dominantly inherited cutaneous and uterine leiomyomas, uterine leiomyosarcoma, and papillary renal cell cancer (HLRCC syndrome). To evaluate the role of FH inactivation in sporadic tumorigenesis, we analyzed a series of 299 malignant tumors representing 10 different malignant tumor types for FH mutations. Additionally, 153 uterine leiomyomas from 46 unselected individuals were subjected to and informative in loss of heterozygosity analysis at the FH locus, and the five (3.3%) tumors displaying loss of heterozygosity were subjected to FH mutation analysis. Although mutation search in the 299 malignant tumors was negative, somatic FH mutations were found in two nonsyndromic leiomyomas; a splice site change IVS4 + 3A>G, leading to deletion of exon four, and a missense mutation Ala196Thr. The occurrence of somatic mutations strongly suggests that FH is a true target of the 1q43 deletions. Although uterine leiomyomas are the most common tumors of women, specific inactivating somatic mutations contributing to the formation of nonsyndromic leiomyomas have not been reported previously. Taking into account the apparent risk of uterine leiomyosarcoma associated with FH germline mutations, the finding raises the possibility that also some nonsyndromic leiomyomas may have a genetic profile that is more prone to malignant degeneration. Our data also indicate that somatic FH mutations appear to be limited to tumor types observed in hereditary leiomyomatosis and renal cell cancer. 相似文献
10.
Klas Linderborg Jean Pierre Joly Jukka-Pekka Visapää Mikko Salaspuro 《Food and chemical toxicology》2008
The old Normandian habit of consumption of hot Calvados is associated with an increased risk of oesophageal cancer compared to other alcoholic beverages. The role of alcohol consumption in the risk of oesophageal cancer is well established. The first metabolite of alcohol, acetaldehyde is a potential local carcinogen in humans. Accordingly, different acetaldehyde concentrations in different beverages could account for some of the variations in cancer risk with regard to the type of alcoholic beverage. Eighteen samples of farm-made Calvados were collected in Normandy. Samples of commercially available beverages were purchased, including factory-made Calvados, other spirits, wines, beer and cider. The samples were analysed gas-chromatically for acetaldehyde and ethanol concentrations. All results are expressed as mean ± SD. The mean acetaldehyde concentration of all Calvados samples (1781 ± 861 μM, n = 25) differed highly significantly (p < 0.001) from that of all wine samples (275 ± 236 μM), from all other spirits samples (1251 ± 1155 μM, p < 0.05), and from all beer and cider samples (233 ± 281 μM, p < 0.001). Farm-made Calvados and farm-made cognac had the highest mean acetaldehyde concentration of the measured beverages. The high concentration of acetaldehyde combined with possible effects of the high temperature at which Calvados is consumed could account for the increased risk of Calvados-related oesophageal cancer. 相似文献