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181.
Fragoso AC Eloy C Estevão-Costa J Campos M Farinha N Lopes JM 《Journal of pediatric surgery》2011,46(11):2076-2082
Background and Purpose
Inflammatory myofibroblastic tumor (IMT) is a proliferative lesion of controversial nosology and uncertain prognosis. In an attempt to acquire further understanding of pathogenesis and biologic behavior, we surveyed abdominal IMTs managed over the last 12 years at a single institution.Methods
Intra-abdominal IMTs treated between 1995 and 2007 were reviewed concerning demographic, clinical, and pathologic features as well as therapeutic management and outcome. All specimens were reevaluated by histologic examination and immunohistochemistry.Results
There were 7 patients (4 males; age range, 28 days to 14 years). Five lesions were located in alimentary tract: 1 gastric presenting with bleeding, 1 hepatic presenting with a thoracic wall mass, 1 pancreatic and 2 colonic presenting with obstructive symptoms. One splenic IMT was found incidentally. The remaining case arose from the adrenal gland and presented with a palpable mass. The gastric and adrenal IMTs had evidence of a previous or concomitant infectious setting. Five lesions were excised. The pancreatic IMT underwent a drainage procedure followed by steroid administration, and the hepatic lesion received antibiotics. Histopathology revealed characteristic findings of IMT. Expression of anaplastic lymphoma kinase was negative in all cases. At a median follow-up of 6 years (range, 3-15), all children were asymptomatic with no recurrences. The hepatic and pancreatic IMT displayed complete and near total regression, respectively.Conclusion
A benign behavior of abdominal IMTs was observed even in patients not undergoing surgical excision. Although IMT remains a surgical disease, a conservative approach may be reasonable in select cases. 相似文献182.
Fátima Baptista Isabel Fragoso Jaime Branco António Alves de Matos Luís B. Sardinha 《Journal of clinical densitometry》2011,14(4):484
The objective of this study was to provide reference data for quantitative ultrasound (QUS, Sunlight Omnisense; BeamMed Ltd., Petach-Tikva, Israel) of the radius and tibia in Portuguese subjects. The evaluation was conducted with QUS in 430 healthy participants (213 girls and 217 boys) aged between 9 and 13 yr. The results indicate that 13-yr-old girls had higher radial and tibial speed of sound (SOS) than younger girls and higher tibial SOS than boys of the same age (p < 0.05). Regression analysis revealed positive associations between radial and tibial SOS and skeletal maturity in girls and negative association between tibial SOS and fat mass in both sexes and average intensity of physical activity in girls (p < 0.01). The young Portuguese subjects showed an age-related variation in SOS similar to that seen in some of the eastern Mediterranean countries. Children with a history of fracture of lower (n = 24) or upper limbs (n = 43) did not show a significant decrease of SOS values in any of the bone sites evaluated (tibia Z-score: −0.23 standard deviations [SDs]; radius Z-score: −0.21 SDs; p > 0.05). 相似文献
183.
Lima Lde O Lerario AM Alencar GA Brito LP Almeida MQ Domenice S Latronico AC Mendonca BB Fragoso MC 《Arquivos brasileiros de endocrinologia e metabologia》2011,55(1):72-77
The occurrence of metachronous adrenocortical carcinoma has rarely been described. We report a case of a child with virilizing adrenocortical metachronous tumors that, despite several metastases, presented long-term survival (15 years). We analyzed in this tumor IGF2, IGF1R and FGFR4 gene expression, and evaluated the presence of p.R337H germline p53 mutation and somatic CTNNB1 mutation. IGF2 gene was over-expressed in both left (Weiss score 5) and right (Weiss 7) adrenocortical tumors. IGF1R expression levels were higher in the right adrenocortical tumor. FGFR4 over-expression was also detected in the right adrenocortical tumor. In addition, this patient harbors the germline p.R337H p53 mutation and loss of heterozygosity (LOH) was detected in the tumors. No somatic CTNNB1 mutations were found in both tumors. In conclusion, we demonstrated in this unusual case the over-expression of growth signaling pathways, which are molecular mechanisms previously related to adrenocortical tumorigenesis. Furthermore, the absence of somatic CTNNB1 mutations, which is a molecular marker of poor prognosis in adults, might be related to the long-term survival of this patient. 相似文献
184.
185.
YD Fragoso KD Shearer T Adoni SV Alves-Leon JB Bidin Brooks ER Comini-Frota A Damasceno B Damasceno AP Peres Fiore MC Baptista Giacomo S Gomes MV Magno Gonçalves DR Kaimen-Maciel K Lin J Lopes JS Lopes G Lourenço G Machado LD Melges N de Macedo Oliveira Morales R Rizo Morales M Moreira JS Noal CL da Silva Oliveira RM Papais-Alvarenga M Parolin J Batista Ribeiro SB Félix Ribeiro H Ruocco F Siquineli 《Neuroepidemiology》2012,39(1):70-71
186.
Yamamoto-Furusho JK Álvarez-León E Fragoso JM Gozalishvilli A Vallejo M Vargas-Alarcón G 《Human immunology》2011,72(11):1029-1032
Ulcerative colitis (UC) is an inflammatory bowel disease (IBD) of unknown etiology. Interleukin (IL)-19 belongs to the IL-10 family and is a potent immunomodulatory cytokine, with implications for pathogenesis in IBD. No previous studies have reported this novel association between UC and IL-19 polymorphisms. In the present work, the role of IL-19 gene polymorphisms as susceptibility markers for UC was evaluated. Three polymorphisms of IL-19 gene (rs2243188, rs2243191, and rs2243193) were genotyped by 5' exonuclease TaqMan genotyping assays on an ABI Prism 7900 HT Fast Real-Time PCR System in a group of 200 Mexican Mestizo patients with UC and 698 healthy unrelated individuals with no family history of UC. The rs2243191 polymorphism significantly deviated from Hardy-Weinberg equilibrium (HWE) (p < 0.05) and consequently was not included in the analysis. Although genotypes AA (rs2243188) and AA (rs2243193) were significant decreased in UC patients as compared with healthy controls (p(c) = 0.018 and p(c) = 0.006, respectively), a genetic additive effect for the alleles was not observed (Cochran-Armitage trend test, not significant). In the subgroup analysis, no differences were found between the IL-19 genotypes and the clinical characteristics of UC. The results suggest that IL-19 polymorphisms (rs2243188 and rs2243193) might have a protective role in the development of UC in Mexican individuals. 相似文献
187.
Jeffrey P. McDermott Gladis Sánchez Vargheese Chennathukuzhi Gustavo Blanco 《Journal of assisted reproduction and genetics》2012,29(12):1313-1325
Purpose
Expression of the Na,K-ATPase α4 isoform is required for sperm motility and fertility and is controlled by the Atp1a4 promoter. Here, we have investigated the specific tissue, cell type and developmental regulation of expression mediated by the Atp1a4 promoter.Methods
We have inserted the green fluorescent protein (GFP), downstream of the endogenous Atp1a4 promoter, in place of the Na,K-ATPase α4 gene, and used it as a marker for α4 expression in mice (Atp1a4 null(GFP) mice).Results
Replacement of α4 by GFP completely disrupted α4 expression and activity, produced sperm morphological and functional abnormalities, and caused infertility of Atp1a4 null(GFP) male mice. Immunoblot analysis of Atp1a4 null(GFP) mouse tissues showed GFP expression in testis. This particular expression pattern was found in adult, but not in mouse embryos or in 7, 18 day old mice. In agreement with expression of GFP, adult Atp1a4 null(GFP) mouse testis displayed the typical fluorescence of GFP. Immunocytochemistry of testis identified GFP in more differentiated male germ cells, but not in spermatogonia, Leydig or Sertoli cells. Further analysis, using immunoblot of fluorescently sorted testis cells with cell specific markers, detected GFP only in spermatocytes, spermatids and spermatozoa. While epididymis showed GFP expression, this was confined to the spermatozoa within the epididymal tubules.Conclusions
Our results show that the Atp1a4 promoter drives GFP expression exclusively in male germ cells of the testis, where it restricts it to post-meiotic stages of spermatogenesis. These findings highlight the exquisite spatial and temporal control of expression exerted by the Atp1a4 promoter on Na,K-ATPase α4, which is particularly well suited to fulfill the special functions of spermatozoa. 相似文献188.
189.
Beta1-adrenergic receptor gene polymorphisms in Mexican patients with idiopathic dilated cardiomyopathy 总被引:1,自引:0,他引:1
Fragoso JM Rodríguez-Pérez JM González J Cruz D Pérez-Méndez O de Jesus García J de la Peña A Arce M Reyes PA Vargas-Alarcón G 《Experimental and molecular pathology》2006,80(3):279-282
The objective of the study was to evaluate the role of beta1-adrenergic receptor gene polymorphisms (Ser49Gly and Arg389Gly) as susceptibility markers for idiopathic dilated cardiomyopathy (IDC) in Mexican patients. The polymorphisms were analyzed in 47 patients with IDC and 93 ethnically matched healthy controls by polymerase chain reaction-restriction fragment length polymorphism. The Ser49Gly allele and genotype frequencies were similar in patients and healthy controls. On the other hand, the analysis of the Arg389Gly polymorphism showed an increased frequencies of the *Gly allele (pC = 0.022, OR = 2.16) and *Arg/*Gly genotype (pC = 0.027, OR = 2.70) in the group of IDC patients when compared to healthy controls. The data suggest that Arg389Gly polymorphism could be involved in the genetic susceptibility to develop IDC in Mexicans. 相似文献