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排序方式: 共有358条查询结果,搜索用时 31 毫秒
1.
Tekin M Kavaz A Berberoğlu M Fitoz S Ekim M Ocal G Akar N 《American journal of medical genetics. Part A》2004,(3):284-287
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. 相似文献
2.
Telfer JF; Thomson AJ; Cameron IT; Greer IA; Norman JE 《Human reproduction (Oxford, England)》1997,12(10):2306-2312
Superoxide, an agent which attenuates the half-life of nitric oxide, is
metabolized and synthesized by superoxide dismutase (SOD) and xanthine
oxidase, respectively. Over the last few years much work has focused on the
role of nitric oxide in human parturition. The aim of this study was to
determine whether the onset of human parturition is associated with a
change in the expression of copper/zinc superoxide dismutase (Cu/Zn SOD),
manganese superoxide dismutase (Mn SOD) or xanthine oxidase within the
uterus. Samples of myometrium, placenta, decidua and fetal membranes were
obtained from women before and after the onset of labour at term.
Immunocytochemistry was used to localize Cu/Zn SOD, Mn SOD and xanthine
oxidase and measure SOD enzyme activity. Cu/Zn and Mn SOD-like
immunoreactivity was detected in syncytiotrophoblast cells, villous stromal
cells and endothelial cells of blood vessels in the placenta. In the
myometrium Cu/Zn and Mn SOD were localized to myocytes and endothelial
cells and to some vascular smooth muscle cells. In the fetal membranes we
observed staining for Cu/Zn SOD and Mn SOD in the amnion, chorion,
extravillous trophoblast and decidua. There was no difference in SOD enzyme
activity or staining intensity for SOD between different cell types before
and during labour. Xanthine oxidase immunoreactivity was identified in each
of the tissues examined and again there was no difference in immunostaining
in tissues obtained from women delivered before or after the onset of
labour. These results show that the pregnant uterus is capable of both
synthesizing and degrading superoxide and suggest that superoxide dismutase
and xanthine oxidase may play a role in the maintenance of uterine
quiescence during pregnancy, but not in the initiation of parturition.
相似文献
3.
Endothelin receptor expression in human decidua 总被引:3,自引:1,他引:3
Kohnen G; Campbell S; Irvine GA; Church HJ; MacLachlan F; Titterington M; Cameron IT 《Molecular human reproduction》1998,4(2):185-193
The endothelins are signalling peptides that act via two receptors, ET(A)
and ET(B). In the human endometrium, endothelin receptors have been
demonstrated in glands and stroma and have been shown to vary during the
course of the menstrual cycle. The present study was undertaken to
determine whether or not expression of endothelin receptors changes during
pregnancy or after administration of exogenous progestagens. The expression
of the receptors was correlated with the appearance of basement membrane
components during decidualization of the endometrial stroma. Decidual
specimens (n = 15) were obtained during the first trimester of pregnancy
and 10 at term. Sixteen pairs of endometrial biopsies were obtained from
women with menorrhagia before and after exposure to exogenous progestagens.
A total of 15 hysterectomy specimens were used as controls for the
expression of stromal basement membrane proteins in the absence of
decidualization. Autoradiography was carried out with selective ligands for
ET(A) ([125I]-PD 151242) and ET(B) ([125I]-BQ3020). The distribution of
ligand binding was then compared with the distribution of laminin alpha2
light chain and collagen IV. ET(A), ET(B), laminin alpha2 light chain, and
collagen IV were expressed in stromal decidual cells in the first trimester
of pregnancy. ET(B) was also found on endometrial glandular epithelium.
Quantitative macro-autoradiography and multiple regression analysis
demonstrated a highly significant positive correlation (P < 0.001)
between expression of ET(B) and laminin alpha2 light chain. In the third
trimester qualitative examination suggested a reduction of ET(A) in the
stroma. Progestagen-induced decidua exhibited a similar pattern to that
found in first trimester decidua. This study has demonstrated up-regulation
of ET(B) during the progesterone- dependent process of decidualization and
suggests a paracrine or autocrine role for endothelins in the decidua.
相似文献
4.
The aim of this study was to record sacral bone morphometry that may help in selection of the implant type and proper size in sacroiliac separation. For this reason, sacral lengths and width, the length of each sacral vertebrae, distances between cranial and caudal articular processes, vertical and transversal diameters of the cranial endplate, sacral tuberositas and articular surface areas were obtained from 11 dogs. Additionally, the transverse and vertical diameters of the bony structure and sacral canal were measured from six cross-sections. The data of the study were determined to be representative of the sacral values for average-sized dogs, which was confirmed statistically. The highest value was the sacral width among the linear measurements. The ventral sacral length was longer than the dorsal sacral length. The total lateral area of the sacral wing was measured as 677.46 (142.1)mm2. The transverse diameters of the first sacral vertebra important for screw implantation were 46.02 (4.33)mm and 44.18 (5.29)mm in the first and second cross-sections, respectively. 相似文献
5.
Yuri A. Zarate Luigi Boccuto Sujata Srikanth Rini Pauly Eylem Ocal Tonya Balmakund Kevin Hinkle Vikki Stefans Gerald B. Schaefer Ronnie Thomas Collins II 《American journal of medical genetics. Part A》2019,179(6):1047-1052
Kosaki overgrowth syndrome is a recently described syndrome characterized by distinctive facial features, brain white matter lesions, and developmental delay. Germline activating heterozygous PDGFRB mutations have been reported in this condition. Systemic connective tissue‐type findings have been described in some individuals. We describe a 19‐year‐old Caucasian female with a history of hydrocephalus, Dandy–Walker malformation, cervical spine arachnoid cyst, progressive scoliosis, and overgrowth. Her physical exam included distinctive craniofacial dysmorphism, as well as soft and hyperextensible skin. Cardiovascular imaging during adolescence revealed saccular aneurysms in both coronary artery systems and subtle tortuosity of the cervical vertebral arteries. Exome sequencing trio analysis identified a de novo previously reported pathogenic variant in PDGFRB, c.1696T>C (p.[Trp566Arg]). Further functional studies included platelet‐derived growth factor cellular metabolic pathway activity that confirmed the variant causes a constitutive activation of the PI3K‐AKT pathway. This is the first report to characterize the activating nature of this PDGFRB variant. We also highlight the connective tissue findings seen in Kosaki overgrowth syndrome and recommend baseline echocardiographic evaluation in all individuals with this condition with particular emphasis on coronary arteries. 相似文献
6.
Huseyin Celebi Refik Erdim Kanber Ocal Karabay Ozlem Yildirimturk Vedat Aytekin 《The International journal of angiology》2012,21(1):63-68
Transient left ventricular apical ballooning syndrome is characterized by reversible left ventricular wall motion abnormalities, chest pain or dyspnea, ST-segment elevation, and mild elevation of cardiac enzyme levels in the absence of obstructive coronary artery disease. The pathophysiology of the syndrome is still unknown. The probable mechanism is supposed to be a catecholamine discharge. We report the case of a 66-year-old woman with recently diagnosed pheochromocytoma who presented with chest pain and ST-segment elevation. Coronary angiography revealed normal coronaries and apical dyskinesia at ventriculography. A similar episode of chest pain occurred 4 years ago with same angiographic findings and reversible inferobasal akinesia. In-hospital course was uneventful and the patient was discharged from the hospital 4 days later with treatment of aspirin 1 × 100 mg, metoprolol 1 × 50 mg, lisinopril 1 × 10 mg, and atorvastatin 1 × 20 mg. At 2 years follow-up after the event, the patient remained asymptomatic. 相似文献
7.
8.
Macit Kalcik M.D. Cüneyt Toprak M.D. M. Ozan Gursoy M.D. Mahmut Yesin M.D. Lutfi Ocal M.D. Hayati Eren M.D. Mehmet Özkan M.D. 《Echocardiography (Mount Kisco, N.Y.)》2014,31(4):E111-E114
Eustachian valve (EV) is a vestige of the valve of the inferior vena cava which directs the umbilical vein blood through open foramen ovale in fetal life. Following birth it gradually regresses, but it may persist in variable size, shape, and thickness as a functionless and benign structure. However, there are reports suggesting that persistent EV may not be completely innocent. It has been accused of being a predisposing cause of patent foramen ovale and paradoxical embolism and also interfering with transseptal interventional procedures. It may serve as a site of infective vegetations and be mistaken as a tumor or thrombus. In the present case, an octopus‐like thrombus attached to the EV was delineated with the utility of two‐dimensional and real time three‐dimensional transesophageal echocardiography. EV was considered to play an essential role in preventing potential pulmonary embolism. 相似文献
9.
Ectasia and severe atherosclerosis: relationships with chlamydia pneumoniae, helicobacterpylori, and inflammatory markers 总被引:2,自引:0,他引:2
Adiloglu AK Can R Nazli C Ocal A Ergene O Tinaz G Kisioglu N 《Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital》2005,32(1):21-27
To date, there has been no convincing evidence for an association between Chlamydia pneumoniae or Helicobacter pylori and ectasia. In this case-control study, we have investigated the association of H. pylori and C. pneumoniae seropositivity with ectasia, severe coronary atherosclerosis, and normal vessels, which were so classified by coronary angiography. We have also evaluated the influence of these infections on inflammatory markers such as high-sensitive C-reactive protein (hsCRP) and interleukin 6 (IL-6). Of the 796 patients undergoing coronary angiography for suspected ischemic heart disease, 244 patients were recruited. Of these, 91 had normal vessels, 88 had 3 or more obstructed vessels, and 65 had ectatic vessels without atherosclerosis. Eighty-seven atherosclerotic patients (98.9%) were positive for C. pneumoniae IgG, as were 64 ectatic patients (98.5%) and 76 controls (83.5%) (P < 0.001). Forty-two atherosclerotic patients (47.7%) were positive for C. pneumoniae IgM, as were 43 ectatic patients (66.2%) and 43 controls (47.3%) (P = 0.036). Seventy-two atherosclerotic patients (81.8%) were positive for H. pylori IgA, as were 26 ectatic patients (40.0%) and 44 controls (48.4%) (P < 0.001). High-sensitive CRP levels were significantly higher in ectatic patients (5.639 mg/L) than in controls (4.390 mg/L) (P = 0.032), and IL-6 levels were significantly higher in atherosclerotic patients (33.92 U/L) than in controls (14.01 U/L) (P < 0.001). Interleukin-6 levels were higher in H. pylori seropositive patients, and hsCRP levels were higher in C. pneumoniae seropositive patients, when compared with seronegatives. We suggest that, as in atherosclerosis, C. pneumoniae infection is related to ectasia, with raised CRP levels. 相似文献
10.
OBJECTIVE—Familial aggregation of Behçet''s disease has been reported previously. The current study aimed at investigating the sibling recurrence risk ratio (λs) for Behçet''s disease, which is of value in the estimation of the magnitude of genetic factors in the pathogenesis of Behçet''s disease.
METHODS—170 consecutive unrelated index cases (98 male, 72 female) were interviewed with a detailed questionnaire to ascertain their family trees and the manifestations of Behçet''s disease in their relatives. Subsequently, the immediately older sibling, or if an older sibling was not available, the immediately younger sibling, was selected as the second sibling for the evaluation. These siblings were contacted by telephone, and all subjects with recurrent oral ulcers were invited for examination.
RESULTS— 31 of the 170 index cases had 51 relatives fulfilling the International Study Group criteria. Among 166 second siblings, seven had Behçet''s disease (six male, one female) and 22 siblings (eight male, 14 female) with recurrent oral ulcers were identified. Sibling recurrence rate—defined as the ratio of the risk of being affected among the siblings of patients and the risk of being affected in the general population— was found to be 4.2%, which gives a λs value for Behçet''s disease of between 11.4 and 52.5 in Turkey.
CONCLUSIONS—A high λs value supports a strong genetic background for Behçet''s disease which will be helpful in designing genetic linkage studies.
相似文献
METHODS—170 consecutive unrelated index cases (98 male, 72 female) were interviewed with a detailed questionnaire to ascertain their family trees and the manifestations of Behçet''s disease in their relatives. Subsequently, the immediately older sibling, or if an older sibling was not available, the immediately younger sibling, was selected as the second sibling for the evaluation. These siblings were contacted by telephone, and all subjects with recurrent oral ulcers were invited for examination.
RESULTS— 31 of the 170 index cases had 51 relatives fulfilling the International Study Group criteria. Among 166 second siblings, seven had Behçet''s disease (six male, one female) and 22 siblings (eight male, 14 female) with recurrent oral ulcers were identified. Sibling recurrence rate—defined as the ratio of the risk of being affected among the siblings of patients and the risk of being affected in the general population— was found to be 4.2%, which gives a λs value for Behçet''s disease of between 11.4 and 52.5 in Turkey.
CONCLUSIONS—A high λs value supports a strong genetic background for Behçet''s disease which will be helpful in designing genetic linkage studies.
相似文献