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41.
Benoit Brasseur Christophe F. Chantrain Nathalie Godefroid Thierry Sluysmans Christine Anslot Renaud Menten Philippe Clapuyt Sophie Dupont Christiane Vermylen Bénédicte Brichard 《Pediatric nephrology (Berlin, Germany)》2010,25(5):983-986
Infantile myofibromatosis is a rare disorder characterized by the formation of tumors in the skin, soft tissues, bone, and viscera. We report the case of a 3-week-old girl who presented with severe hypertension due to generalized infantile myofibromatosis including renal involvement. The infant was treated by chemotherapy and showed progressive regression of the tumors. However, her evolution was marked by the development of aneurismal dilations of the renal and iliac arteries as observed in fibromuscular dysplasia. We discuss the possibility of a link between these two mesenchymal disorders. 相似文献
42.
43.
E.K. Bijlsma A.C.J. Gijsbers J.H.M. Schuurs-Hoeijmakers A. van Haeringen D.E. Fransen van de Putte B.-M. Anderlid J. Lundin P. Lapunzina L.A. Pérez Jurado B. Delle Chiaie B. Loeys B. Menten A. Oostra H. Verhelst D.J. Amor D.L. Bruno A.J. van Essen R. Hordijk B. Sikkema-Raddatz K.T. Verbruggen C.A.L. Ruivenkamp 《European journal of medical genetics》2009,52(2-3):77-87
Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of a number of new microdeletion and microduplication syndromes. Recently, a recurrent copy number variant (CNV) at chromosome 16p11.2 was reported to occur in up to 1% of autistic patients in three large autism studies.In the screening of 4284 patients with MR/MCA with various array platforms, we detected 22 individuals (14 index patients and 8 family members) with deletions in 16p11.2, which are genomically identical to those identified in the autism studies. Though some patients shared a facial resemblance and a tendency to overweight, there was no evidence for a recognizable phenotype. Autism was not the presenting feature in our series.The assembled evidence indicates that recurrent 16p11.2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes. The phenotypical spectrum ranges from MR and/or MCA, autism, learning and speech problems, to a normal phenotype. 相似文献
44.
Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1 总被引:1,自引:0,他引:1
Van Roy N Vandesompele J Menten B Nilsson H De Smet E Rocchi M De Paepe A Påhlman S Speleman F 《Genes, chromosomes & cancer》2006,45(2):107-117
Despite oncogene amplification being a characteristic of many tumor types, the mechanisms leading to amplicon formation have remained largely unresolved. In this study, we used a combinatorial approach of fluorescence in situ hybridization and single-nucleotide polymorphism chip gene copy number analyses to unravel the mechanism leading to nonsyntenic coamplification of MYC and ATBF1 in SJNB-12 cells. To explain our findings, we propose a complex series of events consisting of multiple double-strand breaks, accompanied (or triggered) by the formation of a reciprocal translocation t(8;16), as well as excisions and deletions near the translocation breakpoints. This study provides evidence for a translocation-excision-deletion-amplification sequence of events rather than a breakage-fusion-bridge model, which has been more frequently proposed to explain proto-oncogene amplification. Furthermore, it illustrates the power of presently available tools for detailed analysis of the complex rearrangements that accompany amplicon formation. 相似文献
45.
Vandewoestyne M Kumps C Swerts K Menten B Lammens T Philippé J De Preter K Laureys G Van Roy N Speleman F Deforce D 《International journal of cancer. Journal international du cancer》2012,130(5):1098-1108
In neuroblastoma, tumor biopsies are used for prognostic evaluation and risk assessment by molecular genetic analyses such as fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array CGH). Analysis of primary tumors by array CGH can be hampered by the lack of sufficient tumor cells due to small biopsy size or availability of invaded bone marrow only. Given the importance of accurate assessment of genetic alterations in the diagnostic work-up of patients with neuroblastoma, we evaluated the possibility to analyze bone marrow metastases in patients with disseminated disease. Disseminated neuroblastoma cells were isolated from bone marrow aspirates by using either laser capture microdissection (LCM) or magnetic activated cell sorting (MACS). The array CGH profiles of these isolated metastases were compared to array CGH profiles and/or FISH data of the corresponding primary tumor. Here, we show that the major recurrent DNA copy number alterations detected in primary neuroblastoma tumors (i.e., 1p, 3p and 11q deletion, 17q gain and MYCN amplification) can be detected, with high sensitivity and specificity, in the disseminated neuroblastoma cells isolated from the bone marrow aspirates, using an array platform with high coverage for these regions. Moreover, we demonstrate that for archived material, for example, for retrospective studies, LCM is the method of choice, while for fresh bone marrow aspirates, acquired at the time of diagnosis, MACS is superior. 相似文献
46.
Haest K Kumar A Van Calster B Leunen K Smeets A Amant F Berteloot P Wildiers H Paridaens R Van Limbergen E Weltens C Janssen H Peeters S Menten J Vergote I Morlion B Verhaeghe J Christiaens MR Neven P 《Annals of oncology》2012,23(6):1449-1454
BackgroundWe studied the stellate ganglion block (SGB) recently suggested for the treatment of severe vasomotor symptoms and sleep disturbances in breast cancer survivors. Following an initial pilot study, which focused on the acceptability and safety of SGB for this important problem, we evaluated its short- and long-term efficacy.Materials and methodsPostmenopausal breast cancer survivors with severe vasomotor symptoms resistant to standard nonhormonal pharmacological intervention were eligible. Diaries were used to measure daily hot flash scores (frequency and intensity) and sleep quality (Pittsburgh Sleep Quality Index) during scheduled visits at baseline, 1, 4, 12 and 24 weeks following the SGB. Efficacy data were analyzed using longitudinal regression models.ResultsThirty-four patients participated and none refused the SGB procedure. Most patients received more than one SGB. The pilot study found SGB to be safe. In the main study, hot flash scores were reduced from baseline by 64% [95% confidence interval (CI) -74% to -49%] and 47% (95% CI -62% to -27%) at weeks 1 and 24, respectively. The odds ratio of better sleep quality relative to baseline was 3.4 at week 1 (95% CI 1.6–7.2) and 4.3 at week 24 (95% CI 1.9–9.8).ConclusionIn the short term, SGB appears to be an effective treatment with acceptable morbidity for some breast cancer survivors with therapy-resistant vasomotor symptoms and/or sleep disturbances. Although sleep quality was maintained out to 24 weeks the efficacy of SGB for hot flashes was reduced over time. A randomized controlled trial is needed to confirm these findings. 相似文献
47.
Pediatric diffusion tensor imaging: normal database and observation of the white matter maturation in early childhood 总被引:6,自引:0,他引:6
Hermoye L Saint-Martin C Cosnard G Lee SK Kim J Nassogne MC Menten R Clapuyt P Donohue PK Hua K Wakana S Jiang H van Zijl PC Mori S 《NeuroImage》2006,29(2):493-504
Recent advances in diffusion tensor imaging (DTI) have made it possible to reveal white matter anatomy and to detect neurological abnormalities in children. However, the clinical use of this technique is hampered by the lack of a normal standard of reference. The goal of this study was to initiate the establishment of a database of DTI images in children, which can be used as a normal standard of reference for diagnosis of pediatric neurological abnormalities. Seven pediatric volunteers and 23 pediatric patients (age range: 0-54 months) referred for clinical MR examinations, but whose brains were shown to be normal, underwent anatomical and DTI acquisitions on a 1.5 T MR scanner. The white matter maturation, as observed on DTI color maps, was described and illustrated. Changes in diffusion fractional anisotropy (FA), average apparent diffusion constant (ADC(ave)), and T2-weighted (T2W) signal intensity were quantified in 12 locations to characterize the anatomical variability of the maturation process. Almost all prominent white matter tracts could be identified from birth, although their anisotropy was often low. The evolution of FA, shape, and size of the white matter tracts comprised generally three phases: rapid changes during the first 12 months; slow modifications during the second year; and relative stability after 24 months. The time courses of FA, ADC(ave), and T2W signal intensity confirmed our visual observations that maturation of the white matter and the normality of its architecture can be assessed with DTI in young children. The database is available online and is expected to foster the use of this promising technique in the diagnosis of pediatric pathologies. 相似文献
48.
Kiebert GM Curran D Aaronson NK Bolla M Menten J Rutten EH Nordman E Silvestre ME Pierart M Karim AB 《European journal of cancer (Oxford, England : 1990)》1998,34(12):1902-1909
In 1985, the EORTC Radiotherapy Co-operative Group launched a randomised phase III study comparing high-dose (59.4 Gy in 6.5 weeks) versus low-dose (45 Gy in 5 weeks) radiotherapy with conventional techniques in patients diagnosed with low-grade cerebral glioma. The primary endpoint of the study was survival. No difference in survival was observed between the two treatment strategies. A quality of life (QoL) questionnaire consisting of 47 items assessing a range of physical, psychological, social, and symptom domains was included in the trial to measure the impact of treatment over time. Patients who received high-dose radiotherapy tended to report lower levels of functioning and more symptom burden following completion of radiotherapy. These group differences were statistically significant for fatigue/malaise and insomnia immediately after radiotherapy and in leisure time and emotional functioning at 7-15 months after randomisation. These findings suggest that for conventional radiotherapy for low-grade cerebral glioma, a schedule of 45 Gy in 5 weeks not only saves valuable resources, but also spares patients a prolonged treatment at no loss of clinical efficacy. 相似文献
49.
Montelukast improves symptoms of seasonal allergic rhinitis over a 4-week treatment period 总被引:8,自引:0,他引:8
van Adelsberg J Philip G Pedinoff AJ Meltzer EO Ratner PH Menten J Reiss TF;Montelukast Fall Rhinitis Study Group 《Allergy》2003,58(12):1268-1276
BACKGROUND: Proinflammatory mediators such as the cysteinyl leukotrienes are important in the pathophysiology of allergic rhinitis. This study evaluated the efficacy and tolerability of montelukast, a cysteinyl leukotriene receptor antagonist, given once daily in the morning for treatment of seasonal (fall) allergic rhinitis for 4 weeks. METHODS: This was a randomized, double-blind trial with a placebo run-in and a 4-week treatment period. Patients (n = 1079) with a history of allergic rhinitis and a positive skin test to seasonal pollen allergens were assigned to placebo, montelukast 10 mg, or loratadine 10 mg. Symptoms were assessed with a daily diary. RESULTS: Montelukast was more effective than placebo in improving scores for the primary endpoint of daytime nasal symptoms (P = 0.003) and the secondary endpoints of night-time, composite, and daytime eye symptoms, patient's and physician's global evaluations of allergic rhinitis, and rhinoconjunctivitis quality-of-life (P = 0.006). The positive control loratadine also improved scores for the primary endpoint (P = 0.001) and the majority of the secondary endpoints (P < 0.03). When analyzed by week, the treatment effect of montelukast was more persistent than loratadine over all 4 weeks of treatment. CONCLUSION: Montelukast provided effective relief of seasonal allergic rhinitis symptoms when given once daily in the morning, showed significant and sustained improvement in symptoms of allergic rhinitis over 4 weeks of treatment, and was well-tolerated. 相似文献
50.
Bjrn Menten Karen Buysse Nicole Maas Bernard Thienpont Jo Vandesompele Cindy Melotte Thomy de Ravel Steven Van Vooren Irina Balikova Liesbeth Backx Sandra Janssens Anne De Paepe Bart De Moor Yves Moreau Peter Marynen Jean-Pierre Fryns Geert Mortier Koen Devriendt Joris Vermeesch Frank Speleman 《European journal of medical genetics》2005,48(4):445-446