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1.
Telma L F Gouveia Julia F O Paim Rita C Pavanello Mayana Zatz Mariz Vainzof 《Diagnostic molecular pathology》2006,15(2):95-100
Sarcoglycanopathies (SGpathies) are highly frequent among severely affected limb-girdle muscular dystrophy patients. On the basis of the findings of 5 common mutations in the 4 sarcoglycan (SG) genes in the Brazilian population, we standardized a multiplex polymerase chain reaction-single-strand conformation polymorphism methodology for their concomitant analysis in DNA samples. The test was able to confirm the diagnosis in about 63% of new patients with a suspected SGpathy and was particularly important in patients in advanced stages of the disease, when obtaining a muscle biopsy for analysis may be very difficult. As common mutations have been described in several countries, this multiplex analysis could be useful for the diagnosis of SGpathies if established according to the most prevalent mutations in each population. Besides, even though the disorder studied is rare, the technique could be broadly applicable to other genes and disorders. 相似文献
2.
M. L. Garrè V. Capra E. Di Battista L. Giampietri P. Nozza A. Raso A. Pezzolo A. Rossi C. Milanaccio M. Pavanello A. Naselli 《Child's nervous system》2007,23(2):219-223
Objects Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma
presenting with Klinefelter’s Syndrome (KS) as co-morbid condition.
Materials and methods The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate
reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage
surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence
and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent
an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma.
Conclusion In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first
two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated
association with genetic syndromes in 22%. 相似文献
3.
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies 总被引:3,自引:0,他引:3
M Vainzof R C Pavanello I Pavanello-Filho D Rapaport M R Passos-Bueno E E Zubrzycka-Gaarn D E Bulman M Zatz 《American journal of medical genetics》1991,39(1):38-41
Previously we estimated that about 2.5-4% of isolated male patients diagnosed as Duchenne dystrophy (DMD) may have the autosomal recessive form (AR-DMD). Such cases can be distinguished from X-linked DMD through the analysis of dystrophin. Fifty DMD patients from 47 families were investigated for dystrophin and DNA deletions. Based on our results, we estimate that the frequency of AR-DMD may be about 8-12% among male patients diagnosed as DMD in whom X-linked inheritance could not be confirmed through pedigree data, serum enzymes in female relatives or DNA studies. Such an estimate must be confirmed in a larger sample; however, it shows the importance of assessing dystrophin in all patients diagnosed as DMD in whom X-linked inheritance cannot be proved, since the distinction between these 2 forms has implications for genetic counseling. 相似文献
4.
Livia Garavelli Graziella Simonte Simonetta Rosato Anita Wischmeijer Enrico Albertini Elisa Guareschi Caterina Longo Giuseppe Albertini Chiara Gelmini Chiara Greco Stefania Errico Gustavo Savino Marco Pavanello Rudolf Happle Sheila Unger Andrea Superti‐Furga Karl‐Heinz Grzeschik 《American journal of medical genetics. Part A》2013,161(7):1750-1754
5.
6.
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
Leonardo Galleni Leo Lucas Santos Souza Letícia Nogueira Rita de Cssia Mingroni Pavanello Juliana Gurgel-Giannetti Umbertina C Reed Acary S.B. Oliveira Thais Cuperman Ana Cotta Julia FPaim Mayana Zatz Mariz Vainzof 《Acta myologica》2020,39(4):274
Central Core Disease (CCD) is an inherited neuromuscular disorder characterized by the presence of cores in muscle biopsy. CCD is caused by mutations in the RYR1 gene. This gene encodes the ryanodine receptor 1, which is an intracellular calcium release channel from the sarcoplasmic reticulum to the cytosol in response to depolarization of the plasma membrane. Mutations in this gene are also associated with susceptibility to Malignant Hyperthermia (MHS).In this study, we evaluated 20 families with clinical and histological characteristics of CCD to identify primary mutations in patients, for diagnosis and genetic counseling of the families.We identified variants in the RYR1 gene in 19/20 families. The molecular pathogenicity was confirmed in 16 of them. Most of these variants (22/23) are missense and unique in the families. Two variants were recurrent in two different families. We identified six families with biallelic mutations, five compound heterozygotes with no consanguinity, and one homozygous, with consanguineous parents, resulting in 30% of cases with possible autosomal recessive inheritance. We identified seven novel variants, four of them classified as pathogenic. In one family, we identified two mutations in exon 102, segregating in cis, suggesting an additive effect of two mutations in the same allele.This work highlights the importance of using Next-Generation Sequencing technology for the molecular diagnosis of genetic diseases when a very large gene is involved, associated to a broad distribution of the mutations along it. These data also influence the prevention through adequate genetic counseling for the families and cautions against malignant hyperthermia susceptibility.Key words: central core disease, RYR1, Next Generation Sequencing 相似文献
7.
8.
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. 总被引:18,自引:0,他引:18
A Bettinelli M G Bianchetti E Girardin A Caringella M Cecconi A C Appiani L Pavanello R Gastaldi C Isimbaldi G Lama 《The Journal of pediatrics》1992,120(1):38-43
Clinical or biochemical findings were reevaluated in 34 pediatric patients with primary renal tubular hypokalemic metabolic alkalosis. The patients were subdivided into two groups. Bartter syndrome (primary renal tubular hypokalemic metabolic alkalosis with normocalciuria or hypercalciuria) was diagnosed in 18 patients with molar urinary calcium/creatinine ratios greater than 0.20, and Gitelman syndrome (primary renal tubular hypokalemic metabolic alkalosis with magnesium deficiency and hypocalciuria) was diagnosed in 16 patients with molar urinary calcium/creatinine ratios less than or equal to 0.20 and plasma magnesium levels less than 0.75 mmol/L. Some clinically important differences between the groups were observed. Patients with Bartter syndrome were often born after pregnancies complicated by polyhydramnios (8/18) or premature delivery (7/18) and had short stature (11/18) or polyuria, polydipsia, and a tendency to dehydration (16/18) during infancy (12/18) or before school age (18/18). Patients with Gitelman syndrome had tetanic episodes (12/16) or short stature (3/16) at school age (14/16). We conclude that the Bartter and Gitelman syndromes represent two distinct variants of primary renal tubular hypokalemic metabolic alkalosis and are easily distinguished on the basis of urinary calcium levels. 相似文献
9.
Mastrangelo G Veller Fornasa C Pavanello S Mercer G Lazzaro M Milan G Fadda E Fedeli U Clonfero E 《International journal of immunopathology and pharmacology》2003,16(2):145-150
Inhalation of polyaromatic hydrocarbons (PAHs) extracted from diesel exhaust particles (DEP) enhances local (nasal) production of IgE in humans. The aim of the present research is to investigate whether in humans dermal exposure to PAHs which are not extracted from DEPs increases serum IgE, and whether host factors modify the immunologic effect. In thirty-two patients with acute psoriatic lesions, a cream containing 3% of coal tar (which holds a variety of PAHs) was applied to the skin for 24 hours. Serum IgE were measured before (IgE0) and four (IgE4) and eight (IgE8) days after application. Replicated means were compared by analysis of variance for repeated measures and by the Newman-Keuls' test. IgE0, IgE4 and IgE8 were 151.19, 159.69 (a 6% excess) and 170.90 kU/L (a 13% excess) respectively; pairwise comparison showed IgE8 was significantly higher than IgE0 (p<0.05). At multiple linear regression analysis, the percentage increase in serum IgE across observation days was the dependent variable against age, sex, cigarettes/day, urinary 1-pyrenol, atopy, skin area treated, and grams of cream. Of the independent variables, only age had a significant (p<0.028) influence: the younger the age, the higher the IgE response to PAHs. We conclude that whatever the source and the route of entry (skin or respiratory tract), PAHs increase total serum IgE, mainly in younger age groups. 相似文献
10.
Ebselen attenuates reserpine-induced orofacial dyskinesia and oxidative stress in rat striatum 总被引:5,自引:0,他引:5
Burger ME Alves A Callegari L Athayde FR Nogueira CW Zeni G Rocha JB 《Progress in neuro-psychopharmacology & biological psychiatry》2003,27(1):135-140
Reserpine-induced orofacial dyskinesia is an alleged animal model of tardive dyskinesia whose pathophysiology has been related to striatal oxidative stress.In the present investigation, the authors examined whether ebselen, an antioxidant organochalcogen with glutathione peroxidase-like activity, changes the behavioral and neurochemical effect of acute reserpine administration. Reserpine injection for 3 days every other day caused a significant increase on the tongue protrusion frequency and ebselen (30 mg/kg ip for 4 days, starting 1 day before reserpine) reversed partially the effect of reserpine (P<.05). Reserpine- and reserpine+ebselen-treated groups displayed an increase in vacuous chewing frequency when compared to control and ebselen-treated groups (P<.05) Reserpine increased the duration of facial twitching and ebselen reversed partially the effect of reserpine (P<.01). Reserpine increased significantly the thiobarbituric acid-reactive species (TBARS) levels, and ebselen reversed the effect of reserpine on TBARS production in rat striatum. The results of the present study clearly indicated that ebselen has a protective role against reserpine-induced orofacial dyskinesia and reversed the increase in TBARS production caused by reserpine administration. Consequently, the use of ebselen as a therapeutic agent for the treatment of tardive dyskinesia should be considered. 相似文献