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91.
Unal Esra Aslan Ezgi Irmak Ozturk Tulin Kurnaz Gomleksiz Ozlem Kucukhuseyin Ozlem Tuzuner M. Bora Seyhan M. Fatih Ozturk Oguz Yilmaz Aydogan Hulya 《Biochemical genetics》2021,59(6):1413-1426
92.
Yeşilyurt A Dilli D Oguz S Dilmen U Altug N Candemir Z 《Genetic counseling (Geneva, Switzerland)》2011,22(1):35-40
We report a female infant with partial trisomy 8p (8p11.2-->pter) and deletion of 13q (13q32-->qter). She was born with mild hypotonia, intrauterine growth retardation, microcephaly, micrognathia, large low set ears, pectus excavatum, anteriorly placed anus, and bilateral clinodactyly. Echocardiography showed left ventricular hypertrophy, bicuspid aortic valve, dilatation of the aorta and pulmonary artery, and prolapse of atrio-venticular valve leaflets. Cytogenetic investigation of her sister and her father showed that the altered region resulted from a balanced translocation between the part of the long arm of chromosome 13 and short arm of chromosome 8. In partial trisomy 8p, the clinical picture of the patients comprises hypotonia, structural brain abnormalities, facial anomalies including a large mouth with a thin upper lip, a high arched palate, a broad nasal bridge, an abnormal maxilla or mandible, malformed, low set ears, and orthopedic anomalies. Although patients with proximal deletions of 13q that do not extend into band q32 have mild to moderate mental and growth delays with variable minor anomalies, patients with more distal deletions including at least part of band q32 usually have major malformations such as retinoblastoma, mental-motor growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. To our knowledge partial trisomy 8p and partial monosomy of 13q have not been reported previously in the same person. 相似文献
93.
Oguz Tuncer Erdal Peker Nihat Demir Sinan Akbayram Ercan Kirimi 《The Journal of membrane biology》2013,246(7):525-528
We compared spectrophotometric analysis of the umbilical cords of infants with meconium aspiration syndrome (MAS) or with meconium-stained amniotic fluid (MSAF) and healthy infants. In a prospective study, 15 infants with MAS and 37 infants with MSAF were enrolled. Twenty healthy infants formed a control group. The absorption peak of umbilical cords with meconium was significantly higher in the infants with MAS or MSAF than in controls. Spectrophotometric analysis of the umbilical cords with meconium may be useful to identify developed neonates with MAS or MSAF. 相似文献
94.
Semra Kati Edward H. Tsao Thomas Günther Magdalena Weidner-Glunde Thomas Roth?mel Adam Grundhoff Paul Kellam Thomas F. Schulz 《Journal of virology》2013,87(14):8004-8016
Kaposi''s sarcoma-associated herpesvirus (KSHV) is an oncogenic herpesvirus and the cause of Kaposi''s sarcoma, primary effusion lymphoma (PEL) and multicentric Castleman''s disease. Latently infected B cells are the main reservoir of this virus in vivo, but the nature of the stimuli that lead to its reactivation in B cells is only partially understood. We established stable BJAB cell lines harboring latent KSHV by cell-free infection with recombinant virus carrying a puromycin resistance marker. Our latently infected B cell lines, termed BrK.219, can be reactivated by triggering the B cell receptor (BCR) with antibodies to surface IgM, a stimulus imitating antigen recognition. Using this B cell model system we studied the mechanisms that mediate the reactivation of KSHV in B cells following the stimulation of the BCR and could identify phosphatidylinositol 3-kinase (PI3K) and X-box binding protein 1 (XBP-1) as proteins that play an important role in the BCR-mediated reactivation of latent KSHV. 相似文献
95.
Oguz Ozturk Emel Canbay Ozlem T. Kahraman M. Fatih Seyhan Fatih Aydogan Varol Celik Cihan Uras 《Molecular biology reports》2013,40(2):1813-1818
Although HER2/PTEN pathway is commonly disrupted in cancer, association of HER2 and PTEN polymorphisms with breast cancer (BC) remains controversial. We investigated the HER2 Ile655 Val and PTEN IVS4 polymorphisms in patients with BC in Turkish population. HER2 Ile655Val (rs 1136201) and PTEN IVS4 (rs 3830675) polymorphisms were determined using polymerase chain reaction-based restriction fragment length polymorphism (PCR–RFLP) in blood samples of 118 BC patients and 118 age-matched healthy controls. We found that the frequency of the Ile/Val genotype of HER2 Ile655Val gene was significantly higher in BC patients (p < 0.009; OR: 1,983 95 % CI: 1.181—3.328). The presence of ATCTT insertion (+/+) genotype at downstream of exon 4 in intron 4 of PTEN IVS4 gene was also associated with 1.83 fold decreased risk of BC development (p < 0.033; OR: 1.83, 95 % CI: 1.11—3.03). Analysis on clinico-pathological parameters showed neither HER2 Ile655Val nor PTEN IVS4 genotypes were not associated with any of the variables (p > 0.05).In conclusion, our findings suggest that the Ile/Val genotype of HER2 and ATCTT insertion (+/+) genotype of PTEN IVS4 gene may play an important role as genetic markers for breast cancer risk, but both genes genotypes may not be useful for predicting tumor prognosis in Turkish population. 相似文献
96.
Semra Demir Hikmet Murat Sipahioglu Ilhan Kaya Mustafa Usta Orcun Burak Savur 《Archives Of Phytopathology And Plant Protection》2013,46(11):1061-1067
In this study, it is aimed to asses the association of arbuscular mycorrhizal (AM) fungi within colonised rhizosphere of Gramineae family members through a survey by using nested- polymerase chain reaction method in Van province (Turkey). From 24 agro-ecological fields, a total of 82 samples belonging to Gramineae family were tested by molecular methods. The presence of Glomus intraradices and Glomus mosseae was ascertained in 10 plants belonging to eight different species by using fungus specific primers. Root colonisation ranged from 6 to 37% within rhizosphere of Gramineae family members and the average root colonisation by AM fungi was 22%. 相似文献
97.
Basak Akadam-Teker Ozlem Kurnaz Ender Coskunpinar Aynur Daglar-Aday Ozlem Kucukhuseyin Huseyin Altug Cakmak Erhan Teker Zehra Bugra Oguz Ozturk Hulya Yilmaz-Aydogan 《Gene》2013
Background
Hydroxymethylglutaryl-Coenzyme A Reductase (HMGCR) catalyzes the rate-limiting step of cholesterol biosynthesis. This enzyme is the target of the widely available cholesterol lowering statins. In this population-based case–control study, the frequencies of -911 C>A polymorphism (rs3761740) of the HMGCR gene in patients with coronary heart disease (CHD) and healthy subjects were investigated and the correlations between the different genotypes and hypercholesterolemia with cardiovascular risk factors were analyzed.Methods
The HMGCR genotypes were determined in 365 patients with CHD and 365 controls by PCR–RFLP assay. Anthropometric measurements were measured in all participants.Results
There was no significant difference in the genotype frequencies of the HMGCR polymorphism between the male subjects of both patient and control groups, however, the HMGCR-CC genotype was found to be more frequent in female patients with CHD than female controls (p = 0.002). The HMGCR-CC genotype showed higher total-cholesterol (TC) and LDL-cholesterol (LDL-C) levels than the CA + AA genotypes in male CHD patients (p = 0.018). Due to this significant sex interaction, a multivariate analysis was conducted on the patient group. In the multivariate logistic regression analysis, the HMGCR-CC genotype was significantly associated with age < 55 (OR = 2.837, p = 0.001) and TC ≥ 5.18 mmol/L (OR = 1.970, p = 0.027) in male subjects. However, this association was not observed in female patients (p > 0.05). This analysis confirmed that the HMGCR-CC genotype was associated with elevated TC levels in male CHD patients with age < 55 years.Conclusion
These results suggest that age and sex modify the contribution of the HMGCR-911 polymorphism to fasting serum TC, LDL-C levels and risk of CHD. 相似文献98.
Daniela Vullo Semra Isik Sonia Del Prete Viviana De Luca Vincenzo Carginale Andrea Scozzafava Claudiu T. Supuran Clemente Capasso 《Bioorganic & medicinal chemistry letters》2013,23(6):1636-1638
An α-carbonic anhydrase (CA, EC 4.2.1.1) has been recently cloned and characterized in the human pathogenic bacterium Vibrio cholerae, denominated VchCA (Del Prete et al. J. Med. Chem. 2012, 55, 10742). This enzyme shows a good catalytic activity for the CO2 hydration reaction, comparable to that of the human (h) isoform hCA I. Many inorganic anions and several small molecules were investigated as VchCA inhibitors. Inorganic anions such as cyanate, cyanide, hydrogen sulfide, hydrogen sulfite, and trithiocarbonate were effective VchCA inhibitors with inhibition constants in the range of 33–88 μM. Other effective inhibitors were diethyldithiocarbamate, sulfamide, sulfamate, phenylboronic acid and phenylarsonic acid, with KIs of 7–43 μM. Halides (bromide, iodide), bicarbonate and carbonate were much less effective VchCA inhibitors, with KIs in the range of 4.64–28.0 mM. The resistance of VchCA to bicarbonate inhibition may represent an evolutionary adaptation of this enzyme to living in an environment rich in this ion, such as the gastrointestinal tract, as bicarbonate is a virulence enhancer of this bacterium. 相似文献
99.
The effects of chronic long-term intermittent hypobaric hypoxia on blood rheology parameters 总被引:1,自引:0,他引:1
Yelmen N Ozdemir S Guner I Toplan S Sahin G Yaman OM Sipahi S 《General physiology and biophysics》2011,30(4):389-395
The effect of chronic long-term intermittent hypobaric hypoxia (CLTIHH) on blood rheology is not completely investigated. We designed this study to determine the effect of CLTIHH on blood rheology parameters. Present study was performed in 16 male Spraque-Dawley rats that divided into CLTIHH and Control groups. To obtain CLTIHH, rats were placed in a hypobaric chamber (430 mmHg; 5 hours/day, 5 days/week, 5 weeks). The control rats stayed in the same environment as the CLTIHH rats but they breathed room air. In the blood samples aspirated from the heart, hematocrit, whole blood viscosity, plasma viscosity, plasma fibrinogen concentration, erythrocyte rigidity index and oxygen delivery index were determined. The whole blood viscosity, plasma viscosity, hematocrit and fibrinogen concentration values in the CLTIHH group were found to be higher than those of the control group. However, no significant difference was found in erythrocyte rigidity index and oxygen delivery index between the groups. Our results suggested that CLTIHH elevated whole blood viscosity by increasing plasma viscosity, fibrinogen concentration and hematocrit value without effecting the erythrocyte deformability. Hence, CLTIHH that may occur in intermittent high altitude exposure and some severe obstructive sleep apnea (OSA) patients may be responsible for hemorheologic changes in those subjects. 相似文献
100.
Tanrikulu S Doğru-Abbasoğlu S Ozderya A Ademoğlu E Karadağ B Erbil Y Uysal M 《Cell biochemistry and function》2011,29(3):244-248
Oxidative DNA damage, caused by either endogenous or exogenous sources of reactive oxygen species (ROS), has been linked several diseases including Graves' disease (GD). 7,8‐Dihydro‐8‐oxoguanine (8‐oxoG) is a major lesion produced by ROS and is considered a key biomarker of oxidative DNA damage. In humans, 8‐oxoG is mainly repaired by 8‐oxoguanine DNA N‐glycosylase‐1 (hOGG1), which is an essential component of the base excision repair (BER) pathway. The functional studies showed that hOGG1 Ser326Cys polymorphism is associated with the reduced DNA repair activity and increased risk for some oxidative stress‐related diseases. In this study, we firstly investigated hOGG1 Ser326Cys polymorphism in GD. According to our results, Cys/Cys genotype frequency in the GD patients (23.4%) was significantly higher than the controls (9.2%). Cys/Cys genotype had an 3.5‐fold [95% CI (confidence interval): 2.10–6.01, p < 0.001] the Cys allele had 1.83‐fold (95% CI: 1.43–2.34, p < 0.001) increase in the risk for developing GD. Our results suggest that Ser326Cys polymorphism of the hOGG1 gene is associated with GD risk. Copyright © 2011 John Wiley & Sons, Ltd. 相似文献