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排序方式: 共有102条查询结果,搜索用时 15 毫秒
1.
Donangelo I Marcos HP Araújo PB Marcondes J Filho PN Gadelha M Chimelli L 《Endocrine pathology》2005,16(1):53-62
The retinoblastoma gene (RB1) is a tumor-suppressor gene in chromosomal region 13q14.2. Its role in the pathogenesis of pituitary tumors has not been
fully clarified. Some studies have shown that losses in this chromosomal region are related to aggressive tumor behavior,
although the retinoblastoma protein (pRB) is still expressed. Conversely, lack of expression of pRB was observed in one fourth
of GH-secreting pituitary adenomas (GH-tumors). In order to further study the expression of pRB in GH-tumors, we evaluated
this protein in 49 tumors from patients with acromegaly (20 noninvasive, 25 invasive, and 4 with no information) and 8 normal
pituitaries using immunohistochemistry (IHC). Nuclear staining for pRB ranged from 0 to 90% (median 40%) in the tumors and
from 40 to 80% (median 58%) in normal pituitaries. In 10 tumors (20% of total) the adenomatous cells were negative (5 cases)
or had very low labeling (5 cases) for pRB. Sixty three percent (31/49) of the tumors showed staining in 10–80% of the cells
and in 16% (8/49) of the cases >80% of the adenomatous cells were positive for pRB. The expression of pRB was not different
in invasive and noninvasive tumors. In conclusion, pRB is underexpressed in a subgroup of GH-tumors, and this may represent
an early event in the pathogenesis of this tumor subtype. 相似文献
2.
Magalhães J. Ventura N. Lamback E. B. Da Silva D. Camacho A. H. Chimelli L. Gadelha M. R. Kasuki L. 《Pituitary》2022,25(3):433-443
Pituitary - To evaluate the efficacy and safety of oral estrogen therapy in female patients of childbearing age with uncontrolled acromegaly and to verify the significance of the presence of... 相似文献
3.
Tumors and tumorlike lesions of the spine and spinal cord 总被引:1,自引:0,他引:1
Chimelli L 《Neuroimaging Clinics of North America》2001,11(1):viii, 79-viii,110
In this article, a variety of disorders that may occur in the spine and spinal cord and behave as space occupying lesions are presented. The lesions may be of various natures such as infectious, inflammatory, demyelinating, neoplastic, and vascular disorders. In addition, cystic lesions and diseases of the vertebral column that secondarily affect the spinal cord are also discussed. Although the various aspects of these disorders are reviewed, the emphasis is given on their morphologic presentation, which may help the understanding of their radiologic appearances. 相似文献
4.
5.
We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity. 相似文献
6.
7.
Montagna NA de Oliveira ML Mandarim-de-Lacerda CA Chimelli L 《Clinical neuropathology》2005,24(6):284-290
BACKGROUND: Leprosy, a disease caused by Mycobacterium leprae, is an important health problem worldwide. It is responsible for an irreversible nerve damage in which fibrosis plays an important role. The existence of an interaction between mast cells and different fibrotic conditions has long been observed. Tryptase, the most abundant protein product of human mast cells, has been shown to be mitogenic for fibroblasts and to increase type I collagen production. PATIENTS AND METHODS: In order to explore the possible relationship between tryptase-rich mast cells and nerve fibrosis in leprosy, we studied 24 sural nerve biopsies of patients with leprous neuropathy. Mast cells stained with mouse antihuman mast cell antitryptase clone AA1 as well as fibrosis, were quantitatively estimated in both epi- and endoneurial compartments. RESULTS: There was a remarkable association between collagen increase and tryptase-rich mast cell density in the epineurium but not in the endoneurium of leprous nerves. CONCLUSION: Since the epineurium in leprosy is type I collagen rich, the present findings support a tryptase-rich mast cell contribution to epineurial collagenization in leprosy through their tryptase secretion. 相似文献
8.
Kovacs GG Lindeck-Pozza E Chimelli L Araújo AQ Gabbai AA Ströbel T Glatzel M Aguzzi A Budka H 《Annals of neurology》2004,55(1):121-125
Pathologicalprion protein (PrP(Sc)) is the hallmark of prion diseases affecting primarily the central nervous system. Using immunohistochemistry, paraffin-embedded tissue blot, and Western blot, we demonstrated abundant PrP(Sc) in the muscle of a patient with sporadic Creutzfeldt-Jakob disease and inclusion body myositis. Extraneural PrP(C)-PrP(Sc) conversion in Creutzfeldt-Jakob disease appears to become prominent when PrP(C) is abundantly available as substrate, as in inclusion body myositis muscle. 相似文献
9.
Inter-laboratory comparison of DNA preservation in archival paraffin-embedded human brain tissue from participating centres on four continents 总被引:2,自引:0,他引:2
Kösel S Grasbon-Frodl EM Arima K Chimelli L Hahn M Hashizume Y Hulette C Ikeda K Jacobsen PF Jones M Kobayashi M Love S Mizutani T Rosemberg S Sasaki A Smith TW Takahashi H Vortmeyer AO Graeber MB 《Neurogenetics》2001,3(3):163-170
DNA extracted from formalin-fixed and paraffin-embedded brain tissue is known to contain as yet ill-characterized inhibitors
of the PCR process. As part of a project that aims to clarify the role of mitochondrial DNA sequence variation in human neurodegenerative
diseases using DNA from various ethnic backgrounds, we have investigated factors that influence the preservation of archival
DNA and its suitability for PCR. In this study, neuropathological tissue samples were analysed that had been routinely processed
in 18 international centres on four continents. Following DNA extraction, PCR amplification of mitochondrial and nuclear DNA
sequences was performed with and without additional purification of the template DNA. In addition, the DNA used for PCR was
analysed by HPLC. Phosphate-buffered formalin proved to be a superior fixative compared with unbuffered aldehyde: DNA extraction
resulted in greater yields, the molecular weight of the isolated DNA was higher and PCR was more successful. PCR inhibitors
were identified as (1) high concentrations of small (<300 bp) DNA fragments that competitively compete with template DNA and
(2) contaminants of the DNA template solution including denatured protein that cannot be completely removed by phenolic extraction.
HPLC analysis did not reveal significant qualitative differences between DNA isolated from fresh-frozen tissue samples and
DNA recovered from formalin-fixed, paraffin-embedded brain tissue. The fact that DNA could be amplified from the majority
of tissue specimens in this study suggests that rare diseases and diseases where ethnic background plays an important role
can be sampled for genetic polymorphism analysis on a global scale using archival neuropathological collections.
Electronic Publication 相似文献
10.
Masuoka J Brandner S Paulus W Soffer D Vital A Chimelli L Jouvet A Yonekawa Y Kleihues P Ohgaki H 《Oncogene》2001,20(36):5084-5086
Hereditary paraganglioma of the head and neck is associated with germline mutations in the SDHD gene, which encodes a mitochondrial respiratory chain protein. Paragangliomas of the central nervous system are very rare, occur almost exclusively in the cauda equina of the spinal cord and are considered non-familial. In the present study, we screened 22 apparently sporadic paragangliomas of the cauda equina for SDHD mutations. One spinal paraganglioma and similar cerebellar tumours that developed 22 years later in the same patient contained a missense mutation at codon 12 (GGT-->AGT, Gly-->Ser) and a silent mutation at codon 68 (AGC-->AGT, Ser-->Ser). There was no family history of paragangliomas but DNA from white blood cells of this patient showed the same sequence alterations, indicating the presence of a germline mutation. All other cases of spinal paraganglioma had the wild-type SDHD sequence, except one case with a silent mutation at codon 68 (AGC-->AGT, Ser-->Ser). This is the first observation indicating that inherited SDHD mutations may occasionally cause the development of paragangliomas in the central nervous system. 相似文献