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21.
Katherine Turner Ada Piazzini Valentina Chiesa Valentina Barbieri Aglaia Vignoli Elena Gardella Giuseppe Tisi Silvio Scarone Maria Paola Canevini Orsola Gambini 《Seizure》2011,20(9):706-710
Purpose
The incidence of psychogenic non-epileptic seizures (PNES) is 4.9/100,000/year and it is estimated that about 20–30% of patients referred to tertiary care epilepsy centers for refractory seizures have both epilepsy and PNES.The purpose of our study is to evaluate psychiatric disorders and neuropsychological functions among patients with PNES, patients with epilepsy associated with PNES and patients with epilepsy.Methods
We evaluated 66 consecutive in-patients with video-EEG recordings: 21 patients with epilepsy, 22 patients with PNES and 10 patients with epilepsy associated with PNES; 13 patients were excluded (8 because of mental retardation and 5 because they did not present seizures or PNES during the recording period).Results
All patients with PNES had a psychiatric diagnosis (100%) vs. 52% of patients with epilepsy. Cluster B personality disorders were more common in patients with PNES.We observed fewer mood and anxiety disorders in patients with PNES compared with those with epilepsy.We did not find statistically significant differences in neuropsychological profiles among the 3 patient groups.Conclusion
This study can help to contribute to a better understanding of the impact of PNES manifestations, in addition to the occurrence of seizures, in order to provide patients with more appropriate clinical, psychological and social care. 相似文献22.
Aglaia Vignoli Rosa Angela Fabio Francesca La Briola Samantha Giannatiempo Alessandro Antonietti Silvia Maggiolini Maria Paola Canevini 《Epilepsy & behavior : E&B》2010,17(4):489-496
Rett syndrome, a neurodevelopmental disorder affecting mainly females, is caused by a mutation of the MeCP2 gene. Girls with Rett syndrome manifest diverse behavioral and cognitive phenotypes, and the reasons for this variability remain unknown. In addition, girls with Rett syndrome often have epileptic seizures and abnormal EEGs, the characteristics of which differ with the patient. The aim of the study was to verify if neurophysiological and epileptological characteristics could be correlated with cognitive measures, obtained using eye tracker technology, and behavioral scores (Vineland Adaptive Behavior Scales and Rett Assessment Rating Scale) in 18 patients with Rett syndrome (mean age 13.7 years) at clinical stages III and IV. Age at epilepsy onset and seizure frequency were strictly correlated with neuropsychological outcome, as were EEG stage and distribution of paroxysmal abnormalities. Our findings demonstrate that neurophysiological features should be considered prognostic of cognitive and behavioral outcome in the clinical management of Rett syndrome. 相似文献
23.
24.
Gerassimos E. Voutsinas Eleana F. Stavrou Gerassimos Karousos Aggeliki Dasoula Adamantia Papachatzopoulou Maria Syrrou Annemieke J.M.H. Verkerk Peter van der Spek George P. Patrinos Reinhard Stöger Aglaia Athanassiadou 《Human mutation》2010,31(6):685-691
Genetic alterations in the alpha‐synuclein (SNCA) gene have been implicated in Parkinson Disease (PD), including point mutations, gene multiplications, and sequence variations within the promoter. Such alterations may be involved in pathology through structural changes or overexpression of the protein leading to protein aggregation, as well as through impaired gene expression. It is, therefore, of importance to specify the parameters that regulate SNCA expression in its normal and mutated state. We studied the expression of SNCA alleles in a lymphoblastoid cell line and in the blood cells of a patient heterozygous for p.Ala53Thr, the first mutation to be implicated in PD pathogenesis. Here, we provide evidence that: (1) SNCA shows monoallelic expression in this patient, (2) epigenetic silencing of the mutated allele involves histone modifications but not DNA methylation, and (3) steady‐state mRNA levels deriving from the normal SNCA allele in this patient exceed those of the two normal SNCA alleles combined, in matching, control individuals. An imbalanced SNCA expression in this patient is thus documented, with silencing of the p.Ala53Thr allele and upregulation of the wild‐type‐allele. This phenomenon is demonstrated for a first time in the SNCA gene, and may have important implications for PD pathogenesis. Hum Mutat 31:1–7, 2010. © 2010 Wiley‐Liss, Inc. 相似文献
25.
Nicolaidou P Georgouli H Kotsalis H Matsinos Y Papadopoulou A Fretzayas A Syriopoulou V Krikos X Karantana A Karpathios T 《Journal of child neurology》2006,21(3):205-209
Reports of hypovitaminosis D associated with anticonvulsant drugs in pediatric patients are conflicting. The effects of carbamazepine or sodium valproate on vitamin D status were evaluated prospectively in 51 ambulatory epileptic children who were followed during the first year of the study and in 25 and 6 children during the second and third year, respectively. Serum 25-hydroxyvitamin D, parathyroid hormone, calcium, and phosphorus levels were determined before and every 3 months during anticonvulsant therapy. Our subjects were grouped into four classes (0, 1, 2, and 3 consisted of the patients before and during the first, second, and third years of the treatment, respectively). The control group consisted of 80 healthy children. Comparisons between controls and patients of class 0 for the means for each season of all variables showed no significant differences. A decreasing trend in serum 25-hydroxyvitamin D (P < .03) and an increasing trend in serum parathyroid hormone (P < .04) levels were noticed in all seasons from class 0 to class 3. Twenty-five patients (49%) acquired hypovitaminosis D during the study period. The effects of seasonality on serum 25-hydroxyvitamin D, parathyroid hormone, and calcium were noticed in our patients grouped in classes 0, 2 and 3, as well as in controls. Evidence is provided that carbamazepine or sodium valproate can cause hypovitaminosis D in children. 相似文献
26.
Meletti S Vignoli A Benuzzi F Avanzini P Ruggieri A Pugnaghi M Nichelli P Canevini MP 《Epilepsia》2012,53(8):e156-e160
Studies in animal models and patients with epilepsy have suggested that basal ganglia circuits may control epileptic seizures and that striatal dopaminergic transmission may play a role in seizure modulation and interruption. Chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, with prolonged episodes of nonconvulsive status epilepticus suggesting dysfunction in the seizure control system. We present the ictal blood oxygen level-dependent (BOLD) changes in brief seizures recorded by means of electroencephalography-functional magnetic resonance imaging (EEG-fMRI) coregistration in a patient with [r(20)] syndrome. We observed ictal BOLD increments in a cortical-subcortical network involving substantia nigrastriatum and frontal cortex. At present, this is the first functional neuroimaging evidence of the involvement of the nigrostriatal system during ictal EEG discharges in [r(20)] syndrome supporting a role of the basal ganglia circuits in human epileptic seizures. 相似文献
27.
Lasithiotakis K Krüger-Krasagakis S Manousaki A Ioannidou D Panagiotides I Tosca A 《International journal of dermatology》2006,45(4):397-401
BACKGROUND: For Greece, no data regarding the incidence of cutaneous melanoma (CM) have been reported. In this report, we present epidemiologic data for CM on Crete, an island in southern Greece, during the years 1999-2002. We attempt a comparison with corresponding data reported for the Italian population. METHODS: One hundred and two CM patients of Cretan origin with primary CM first diagnosed between the years 1999-2002 were interviewed and underwent complete skin examination by the same two experienced dermatologists. Crude and/or age-standardized incidence rates were calculated for Crete as a whole, as well as for each one of the four prefectures of the island. RESULTS: The age-standardized incidence rate according to the Greek population was 4.6 per 100,000 person-years for men and 4.7 per 100,000 person-years for women. The crude incidence rates did not differ significantly between the four prefectures. Significant differences between Cretan and Italian CM patients were found in terms of gender, age at diagnosis, anatomic site and histogenetic type of CM, hair color, skin reaction to sun exposure, history of sunburn before the age of 15 years, presence of solar lentigines, and total common nevus count. CONCLUSIONS: The incidence of CM on Crete is higher than that estimated for the whole of Greece and comparable with the incidence reported for other southern European countries. 相似文献
28.
Chromosome 20 Ring: A Chromosomal Disorder Associated with a Particular Electroclinical Pattern 总被引:4,自引:2,他引:2
Maria Paola Canevini Vincenzo Sgro Orsetta Zuffardi Raffaele Canger Romeo Carrozzo‡ Elena Rossi§ David Ledbetter Fabio Minicucci† Aglaia Vignoli Ada Piazzini Loredana Guidolin Amalia Saltarelli Bernardo dalla Bernardina¶ 《Epilepsia》1998,39(9):942-951
Summary: Purpose: The chromosome 20 ring [r(20)] is a rare chromosomal disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20).
Methods: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes.
Results: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes.
Conclusions: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present. 相似文献
Methods: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes.
Results: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes.
Conclusions: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present. 相似文献
29.
A new approach for the detection of β-thalassemia mutations has been applied, based on competitive oligonucleotide priming (COP) of in vitro DNA amplification at the mutation site. This method allows genotyping of the template DNA, through differential labeling of the allele-specific competitive oligoprimers and biotinylation of the common reverse primer. The system provides a basis for rapid, simple, and reliable detection of the numerous known β-thalassemia mutations, revealing the precise nature of the mismatch in each case, and thereby facilitating the molecular genetic analysis of the disease. © 1995 Wiley-Liss, Inc. 相似文献
30.
Mitsiogianni Melina Mantso Theodora Trafalis Dimitrios T. Vasantha Rupasinghe H. P. Zoumpourlis Vasilis Franco Rodrigo Botaitis Sotiris Pappa Aglaia Panayiotidis Mihalis I. 《European journal of nutrition》2020,59(2):557-569
European Journal of Nutrition - Isothiocyanates (ITCs) are biologically active plant secondary metabolites capable of mediating various biological effects including modulation of the epigenome. Our... 相似文献