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51.
Noah J Sasson Kristen SL Lam Morgan Parlier Julie L Daniels Joseph Piven 《Journal of Neurodevelopmental Disorders》2013,5(1):11
Background
Features of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the presence of BAP features in both parents confers an increased liability for autism. The current study explores whether the presence of BAP features in two biological parents occurs more frequently in parents of a child with autism relative to comparison parents, whether parental pairs of a child with autism more commonly consist of one or two parents with BAP features, and whether these features are associated with severity of autism behaviors in probands.Method
Seven hundred eleven parents of a child with an autism spectrum disorder and 981 comparison parents completed the Broad Autism Phenotype Questionnaire. Parents of a child with autism also completed the Social Communication Questionnaire.Results
Although parental pairs of a child with autism were more likely than comparison parental pairs to have both parents characterized by the presence of the BAP, they more commonly consisted of a single parent with BAP features. The presence of the BAP in parents was associated with the severity of autism behaviors in probands, with the lowest severity occurring for children of parental pairs in which neither parent exhibited a BAP feature. Severity did not differ between children of two affected parents and those of just one.Conclusions
Collectively, these findings indicate that parental pairs of children with autism frequently consist of a single parent with BAP characteristics and suggest that future studies searching for implicated genes may benefit from a more narrow focus that identifies the transmitting parent. The evidence of intergenerational transmission reported here also provides further confirmation of the high heritability of autism that is unaccounted for by the contribution of de novo mutations currently emphasized in the field of autism genetics. 相似文献52.
Dirk J. A. Smit Danielle Posthuma Dorret I. Boomsma Eco J. C. De Geus 《Psychophysiology》2009,46(2):344-356
We investigated the relationship between three electrophysiological indices of response anticipation in a spatial delayed response task with a low and high memory load manipulation: a slow cortical potential (SCP), theta desynchronization, and upper alpha synchronization. Individual differences in these three measures were examined in 531 adult twins and siblings. Heritability of the SCP at occipital-parietal leads varied from 30% to 43%. Heritability of upper alpha synchronization (35% to 65%) and theta desynchronization (31% to 50%) was significant at all leads. Theta desynchronization and upper alpha synchronization were significantly correlated ( r ∼43%), but SCP was not correlated with either. The effect of working memory load on all three measures was not heritable. Response anticipation reliably evokes an SCP, upper alpha synchronization and theta desynchronization, but variation in these measures reflects different (genetic) sources. 相似文献
53.
Hydrogen peroxide-induced Ca2+ responses in CNS pericytes 总被引:1,自引:0,他引:1
Kamouchi M Kitazono T Ago T Wakisaka M Kuroda J Nakamura K Hagiwara N Ooboshi H Ibayashi S Iida M 《Neuroscience letters》2007,429(1):12-16
A single nucleotide polymorphism (SNP) in the brain-derived neurotrophic factor (BDNF) gene Val66Met has been associated with depression. However, the relationship between this SNP and depression has been mixed, especially when comparing studies of child and adult depression. We examined whether Val66Met would predict depression differentially in mothers versus their daughters. We also examined whether rumination, the tendency to brood and repetitively think about negative information, might serve as a mediator in the path between genotype and depressive symptoms. Participants included 200 individuals (100 mother-daughter pairs) from a high-risk population. The BDNF Val66Met polymorphism was examined in DNA samples from the mothers and daughters, and measures of depressive symptoms and rumination were also obtained. Among the young adolescent girls (ages 10-14), the Val/Val genotype was associated with more depressive symptoms and higher rumination scores compared to the Val/Met genotype. Furthermore, rumination mediated the relationship between genotype and depressive symptoms. However, in the mothers with adult-onset depression the Val/Met genotype was associated with more depressive symptoms, and rumination again mediated the relationship between genotype and depression. Rumination may be an endophenotype in the pathway from the BDNF Val66Met polymorphism to depression. Future work should further explore this mechanism and pursue explanations for its effects at different times in development. 相似文献
54.
Eva Gunde Miloslav Kopecek Lukas Propper Cyril Höschl Martin Alda Tomas Hajek 《Journal of psychiatric research》2011,45(1):76-82
Background
White matter hyperintensities (WMHs) are among the most replicated neuroimaging findings in bipolar disorder (BD). It is not clear whether these lesions are an artifact of comorbid conditions, or whether they are directly associated with the disorder, or even represent biological risk factor for BD.Methods
To test whether WMHs meet criteria for an endophenotype of BD, we conducted a high-risk design study and recruited 35 affected, 44 unaffected relatives of bipolar probands (age range 15-30 years), matched by age and sex with 49 healthy controls without any personal or family history of psychiatric disorders. The presence of WMHs was determined from Fluid Attenuated Inversion Recovery (FLAIR) scans acquired on a 1.5 Tesla scanner using a validated semi-quantitative scale.Results
We found mostly low grade WMHs in all groups. The proportion of WMH-positive subjects was comparable between the unaffected high-risk, affected familial and control groups.Conclusion
White matter hyperintensities did not meet criteria for an endophenotype of BD. Bipolar disorder in young subjects without comorbid conditions was not associated with increased rate of WMHs. 相似文献55.
Euser AS Arends LR Evans BE Greaves-Lord K Huizink AC Franken IH 《Neuroscience and biobehavioral reviews》2012,36(1):572-603
Endophenotypes are intermediate phenotypes on the putative causal pathway from genotype to phenotype and can aid in discovering the genetic etiology of a disorder. There are currently very few suitable endophenotypes available for substance use disorders (SUD). The amplitude of the P300 event-related brain potential is a possible candidate. The present study determined whether the P300 amplitude fulfils two fundamental criteria for an endophenotype: (1) an association with the disorder (disease marker), and (2) presence in unaffected biological relatives of those who have the disorder (vulnerability marker). For this purpose, two separate meta-analyses were performed. Meta-analysis 1 investigated the P300 amplitude in relation to SUD in 39 studies and Meta-analysis 2 investigated P300 amplitude in relation to a family history (FH+) of SUD in 35 studies. The findings indicate that a reduced P300 amplitude is significantly associated with SUD (d = 0.51) and, though to a lesser extent, with a FH+ of SUD (d = 0.28). As a disease maker, the association between reduced P300 amplitude and SUD is significantly larger for participants that were exclusively recruited from treatment facilities (d = 0.67) than by other methods (i.e., community samples and family studies; d = 0.45 and 0.32, respectively), and larger for abstinent SUD patients (d = 0.71) than for current substance users (d = 0.37). Furthermore, in contrast to FH+ males, a P300 amplitude reduction seems not to be present in FH+ females (d = −0.07). Taken together, these results suggest that P300 amplitude reduction can be both a useful disease and vulnerability marker and is a promising neurobiological endophenotype for SUD, though only in males. Implications and future directions are discussed. 相似文献
56.
We theorized the cognitive vulnerability factor featured in hopelessness theory [2] to be a novel endophenotype for depression. We investigated two possible genetic contributors to individual differences in cognitive vulnerability (and, in turn, depression): the BDNF gene and the COMT gene. Results showed that individuals (n = 95) with the BDNF Val66 genotype had significantly greater levels of cognitive vulnerability than individuals with a BDNF Met66 genotype. In addition, among individuals with high levels of cognitive vulnerability, those with the Val66 genotype were significantly more likely than participants with a Met66 genotype to experience increases in depressive symptoms when faced with increased stress. The COMT gene was not associated with cognitive vulnerability or risk for depression. Results support the use of the cognitive vulnerability factor featured in hopelessness theory as an endophenotype associated with depression as well as the role of the BDNF gene in a cognitive subtype of depression. 相似文献
57.
Barral S Cosentino S Costa R Matteini A Christensen K Andersen SL Glynn NW Newman AB Mayeux R 《Neurobiology of aging》2012,33(3):619-619.e7
The authors investigated whether cognitive function may be used as an endophenotype for longevity by assessing the cognitive performance of a family-based cohort consisting of 1380 individuals from 283 families recruited for exceptional survival in field centers in Boston, New York, Pittsburgh, and Denmark. Cognitive performance was assessed in the combined offspring of the Long Life Family Study (LLFS) probands and their LLFS siblings as compared with their spouses' cognitive performance. Our results indicate that the combined offspring of the LLFS probands and their siblings achieve significantly higher scores on both digit forward and backward tasks (p = 5 10-5 and p = 8 10-4 respectively) as well as on a verbal fluency task (p = 0.008) when compared with their spouse controls. No differences between groups were found for the other cognitive tests assessed. We conclude that LLFS family members in the offspring generation demonstrate significantly better performance on multiple tasks requiring attention, working memory, and semantic processing when compared with individuals without a family history of exceptional survival, suggesting that cognitive performance may serve as an important endophenotype for longevity. 相似文献
58.
Georg Kägi Diane Ruge Florian Brugger Petra Katschnig Rafael Sauter Mirta Fiorio Michele Tinazzi John Rothwell Kailash P. Bhatia 《Clinical neurophysiology》2017,128(7):1142-1147
Objective
Idiopathic adult onset cervical dystonia (IAOCD) is considered to be a partially penetrant autosomal dominant genetic condition. Dystonia may result from genetic and environmental factors. In this view, part of the physiology should be an endophenotype stemming from the genetic background. We assessed the most discriminative test to separate patients with IAOCD and healthy controls for further endophenotyping in non-affected 1st degree relatives.Methods
We included patients with IAOCD, their 1st degree relatives and healthy controls. Tests performed: (1) Sensory temporal discrimination (visual, tactile, visuo-tactile), (2) Paired pulse paradigms using transcranial magnetic stimulation (TMS), (3) Mental rotation paradigms.Results
45 patients with IAOCD, 23 healthy controls and 14 non-affected 1st degree relatives were recruited. Visuo-tactile temporal discrimination separated best between controls and patients as well as between controls and 1st degree relatives. 36% of the latter had an abnormal visuo-tactile temporal discrimination. No difference between patients and healthy controls was found for the other paradigms.Conclusions
Visuo-tactile temporal discrimination separates controls from patients with IAOCD and its 1st degree relatives. 36% of the latter had abnormal visuo-tactile thresholds supporting the role of visuo-tactile temporal discrimination as an endophenotype for IAOCD.Significance
Even though the study was of exploratory design, our findings expand the understanding of endophenotypes in IAOCD. 相似文献59.
Loo SK Rich EC Ishii J McGough J McCracken J Nelson S Smalley SL 《Journal of child psychology and psychiatry, and allied disciplines》2008,49(9):950-957
Background: This paper examines familiality and candidate gene associations of cognitive measures as potential endophenotypes in attention-deficit/hyperactivity disorder (ADHD).
Methods: The sample consists of 540 participants, aged 6 to 18, who were diagnosed with ADHD from 251 families recruited for a larger genetic study of ADHD. All members of the family underwent psychiatric interviews and children were administered a large battery of cognitive tasks. Subjects were genotyped for several dopaminergic candidate genes (DAT1, DRD4, and DRD5).
Results: Performance on measures of intelligence, working memory, and set-shifting had the highest sibling correlations and exhibited significant familial clustering. The 7-repeat allele of the dopamine receptor D4 (DRD4) gene was associated with poor performance on measures of intelligence, color naming, interference control, and working memory. There were no significant associations with DAT1 and DRD5.
Conclusions: Sibling correlations, familial clustering and candidate gene associations provide strong support for verbal working memory as a candidate endophenotype for ADHD. More complex models of, and larger sample sizes for, genetic association with cognitive functions are encouraged for future study. 相似文献
Methods: The sample consists of 540 participants, aged 6 to 18, who were diagnosed with ADHD from 251 families recruited for a larger genetic study of ADHD. All members of the family underwent psychiatric interviews and children were administered a large battery of cognitive tasks. Subjects were genotyped for several dopaminergic candidate genes (DAT1, DRD4, and DRD5).
Results: Performance on measures of intelligence, working memory, and set-shifting had the highest sibling correlations and exhibited significant familial clustering. The 7-repeat allele of the dopamine receptor D4 (DRD4) gene was associated with poor performance on measures of intelligence, color naming, interference control, and working memory. There were no significant associations with DAT1 and DRD5.
Conclusions: Sibling correlations, familial clustering and candidate gene associations provide strong support for verbal working memory as a candidate endophenotype for ADHD. More complex models of, and larger sample sizes for, genetic association with cognitive functions are encouraged for future study. 相似文献
60.
Background: Current effort is directed at defining new classification schemes for alcohol use disorders (AUD) based on genetic/biological, physiological, and behavioral endophenotypes.
Methods: We describe briefly findings of in vivo brain proton magnetic resonance spectroscopy (1 H MRS) studies in AUD and propose that they be further explored and expanded regarding their value as a potential endophenotype for AUD.
Results: In vivo1 H MRS, as part of the emerging field of "imaging genomics," may provide readily accessible, objective, functionally significant and region-specific neurobiological measures that successfully link genotypes to neurocognition and to psychiatric symptomatology in relatively small patient cohorts. We discuss several functional gene variants that may affect specific 1 H MRS-detectable metabolites and provide recent data from our own work that supports the view of genetic effects on metabolite measures.
Conclusions: MRS-genetics research will not only offer clues to the functional significance and downstream effects of genetic differences in AUD, but, via monitoring and/or predicting the efficacy of pharmacological and behavioral interventions as a function of genotype, has the potential to influence future clinical management of AUD. 相似文献
Methods: We describe briefly findings of in vivo brain proton magnetic resonance spectroscopy (
Results: In vivo
Conclusions: MRS-genetics research will not only offer clues to the functional significance and downstream effects of genetic differences in AUD, but, via monitoring and/or predicting the efficacy of pharmacological and behavioral interventions as a function of genotype, has the potential to influence future clinical management of AUD. 相似文献