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1.
Integrated YAC Contig Map of the Prader–Willi/Angelman Region on Chromosome 15q11–q13 with Average STS Spacing of 35 kb
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Susan L. Christian Nehal K. Bhatt Scott A. Martin James S. Sutcliffe Takeo Kubota Bing Huang Apiwat Mutirangura A. Craig Chinault Arthur L. Beaudet David H. Ledbetter 《Genome research》1998,8(2):146-157
Prader–Willi syndrome and Angelman syndrome are associated with parent-of-origin-specific abnormalities of chromosome 15q11–q13, most frequently a deletion of an ~4-Mb region. Because of genomic imprinting, paternal deficiency of this region leads to PWS and maternal deficiency to AS. Additionally, this region is frequently involved in other chromosomal rearrangements including duplications, triplications, or supernumerary marker formation. A detailed physical map of this region is important for elucidating the genes and mechanisms involved in genomic imprinting, as well as for understanding the mechanism of recurrent chromosomal rearrangments. An initial YAC contig extended from D15S18 to D15S12 and was comprised of 23 YACs and 21 STSs providing an average resolution of about one STS per 200 kb. To close two gaps in this contig, YAC screening was performed using two STSs that flank the gap between D15S18 and 254B5R and three STSs located distal to the GABRA5–149A9L gap. Additionally, we developed 11 new STSs, including seven polymorphic markers. Although several groups have developed whole-genome genetic and radiation hybrid maps, the depth of coverage for 15q11–q13 has been somewhat limited and discrepancies in marker order exist between the maps. To resolve the inconsistencies and to provide a more detailed map order of STSs in this region, we have constructed an integrated YAC STS-based physical map of chromosome 15q11–q13 containing 118 YACs and 118 STSs, including 38 STRs and 49 genes/ESTs. Using an estimate of 4 Mb for the size of this region, the map provides an average STS spacing of 35 kb. This map provides a valuable resource for identification of disease genes localized to this region as well as a framework for complete DNA sequencing. 相似文献
2.
Tawatsin A Thavara U Bhakdeenuan P Chompoosri J Siriyasatien P Asavadachanukorn P Mulla MS 《The Southeast Asian journal of tropical medicine and public health》2007,38(3):434-441
Novaluron, an insect growth regulator, a benzoylphenyl urea insecticide, was evaluated in the field against the larvae of polluted-water mosquitoes. The study was carried out in highly polluted sites infested with populations of mosquito larvae, mostly Culex quinquefasciatus Say, in low-income communities in urban areas of Bangkok, Thailand. An EC10 formulation was premixed in water and applied by pressurized spray tank to plots ranging from 180 to 1,000 m2 at the rate of 0.1 ml EC 10/m2 (equal to 10 mg a.i./m2) of the breeding sites. Assessments were made by sampling mosquito larvae and pupae to determine the trends of immature populations before treatment and weekly after treatment. Reduction of the populations in percents were then computed by comparing counts of immature mosquitoes (larvae and pupae) to the pretreatment counts at each particular site. It was found that the immature populations of mosquitoes in the treated areas were dramatically suppressed and remained at extremely low levels for 3-7 weeks after the treatment depending on the prevailing conditions of each experimental site. No negative impact on fishes or aquatic plants in the treated areas were detected during the study period and three months after the experiment was discontinued. Novaluron is an effective agent to control immature populations of polluted-water mosquitoes, especially Cx. quinquefasciatus in habitats in urban areas. This IGR larvicide may play an important role in vector control programs in terms of effectiveness, environmental friendliness and strategies for insecticide-resistance management in vector mosquitoes. 相似文献
3.
Aue-Aungkul A Punyawatanasin S Natprathan A Srisomboon J Kietpeerakool C 《Asian Pacific journal of cancer prevention》2011,12(7):1723-1726
This study was undertaken to evaluate the overtreatment rate of women with abnormal cervical cytology undergoing colposcopy followed by loop electrosurgical excision procedure (LEEP), the so-called "see and treat" approach. Overtreatment was defined as LEEP specimens containing cervical intraepithelial neoplasia (CIN) 1 or less. In this study, medical records of 192 women with abnormal Pap smears undergoing the "see and treat" approach in Chiang Mai University Hospital between October 2008 and October 2010 were reviewed. The preceding Pap smears were as follows: 124 (64.6%) with high-grade squamous intraepithelial lesion (HSIL); 35 (18.2%) with atypical squamous cells cannot exclude high-grade squamous intraepithelial lesion (ASC-H); 20 (10.4%) with low-grade squamous intraepithelial lesion (LSIL); 9 (4.7%) with squamous cell carcinoma (SCCA); and 4 (2.1%) with atypical squamous cells of undetermined significance (ASC-US). Histologic results obtained from loop electrosurgical excision procedure (LEEP) were as follows: CIN 2-3, 106 (55.2%); invasive cancer, 41 (21.4%); CIN 1, 15 (7.8%); adenocarcinoma in situ (AIS), 1 (0.5%); and no lesion, 29 (15.1%). Overall, 22.9% of LEEP specimens contained CIN 1 or less. Significant predictors for overtreatment were type of preceding smears and colposcopic impression. If the "see and treat" approach was strictly carried out in women who had either smears or colposcopic findings revealing high-grade disease, the overtreatment rate was only 7%. Hemorrhagic complication was 6.2% and all could be treated at an outpatient department. In conclusion, the overtreatment rate of the "see and treat" approach in women with various degree of abnormal Pap smears is 23% which would be diminished to the acceptable rate of lower that 10% if strictly performed in those with either smears or colposcopic impressions revealing high-grade abnormality. Peri-operative LEEP complications were mild and acceptable. 相似文献
4.
Kantaputra PN Limwongse C Tochareontanaphol C Mutirangura A Mevatee U Praphanphoj V 《American journal of medical genetics. Part A》2006,140(23):2598-2602
We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation. 相似文献
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6.
Supitcha Wanvimonsuk Pichaya Thitiwanichpiwong Somboon Keelawat Apiwat Mutirangura Nakarin Kitkumthorn 《Journal of medical virology》2019,91(3):444-449
The Epstein-Barr virus (EBV) is one of the infectious agents found in stomach tissue. Recently, EBV-associated gastric carcinoma (EBVaGC) was classified as a new subtype of gastric carcinoma. To date, there is a lack of knowledge about the distribution and prevalence of EBV infection in both the normal stomach and various gastric lesions, including EBVaGC, in the Thai population. In this study, we detected EBV in the normal stomach (NS; n = 19), chronic gastritis (CG; n = 36), intestinal metaplasia (IM; n = 40), gastric dysplasia (GD; n = 15), and gastric adenocarcinoma (GC; n = 33) by polymerase chain reaction (PCR) amplification of the latent membrane protein (LMP1) gene of EBV. EBV-PCR amplification was positive in 42.1%, 36.1%, 22.5%, 13.3%, and 33.3% of NS, CG, IM, GD, and GC, respectively. For further clarification in EBVaGC, we performed EBV-encoded small RNA in situ hybridization (EBER-ISH) in PCR-positive cases of GD and GC. Four GC cases were EBER-ISH positive (12.1%), while both GD cases were EBER-ISH negative. In addition, we determined the distribution of the EBV strain (type A or B) based on EBNA3C sequence and EBV variants based on LMP1 variation (wild-type and 30-bp deletion variants; wt-LMP1 or del-LMP1). The results showed that type A and wt-LMP1 were the most prevalent in all lesions. In conclusion, EBV is common in both the NS and gastric lesions, and the frequency of EBVaGC was 12.1% in Thai patients. 相似文献
7.
Chanida Vinayanuwattikun Siyamol Mingmalairak Nutchawan Jittapiromsak Iyavut Thaipisuttikul Virote Sriuranpong Apiwat Mutirangura Shanop Shuangshoti 《Journal of neuro-oncology》2016,126(3):395-395
Current diagnostic methods for leptomeningeal metastasis (LM) from epithelial-derived malignancy (EDM) have limited sensitivity. Here, we explored SHP-1 promoter 2 methylation (SHP1P2)—an epithelial-specific methylation marker previously proven as risk stratification and potential diagnostic marker in non-small cell lung cancer—for EDM with LM. We prospectively recruited 136 patients who were diagnosed EDM with LM (n?=?25), EDM without LM (n?=?14), non-EDM with LM (n?=?8), and benign meningeal diseases (n?=?89). The primary cancer sites for EDM with LM were lung (n?=?17), breast (n?=?5), and colon (n?=?3). We performed quantitative analyses of cell-free (cfSHP1P2) and whole fraction (wSHP1P2) from cerebrospinal fluid (CSF); results were correlated with the clinicopathological data, including CSF cytology. Median cfSHP1P2 and wSHP1P2 were 3.08 [range: 0–163.5] and 9.35 [0.69–91.63] ng/ml, respectively, in EDM with LM; 0 [0–0.08] and 0.23 [0–7.84] ng/ml in EDM without LM; and were undetectable in most cases of benign meningeal diseases and non-EDM with LM. The cut-off values of 0.22 ng/ml for methylated cfSHP1P2 and 0.59 ng/ml for wSHP1P2 were the best to discriminate EDM with LM from EDM without LM (sensitivity: 79–100?%; specificity: 83–100?%), as well as from other benign conditions (sensitivity: 85–100?% specificity: 78–100?%). CSF cytology yielded 76?% sensitivity for diagnosing EDM with LM. Further validation of CSF SHP1P2 methylation detection as a role of adjunctive tool for LM from EDM should be interested based on our study. 相似文献
8.
Shanop Shuangshoti Woranart Mitphraphan Somruetai Kanvisetsri Lisa Griffiths Yot Navalitloha Wichai Pornthanakasem Apiwat Mutirangura 《Neuropathology》2000,20(3):228-232
A 5‐year‐old girl who developed progressive headache, vomiting, and left hemiparesis was found to have a cystic tumor with an enhanced mural nodule in the right frontoparietal region on a computed tomography examination. The lesion was histologically and ultrastructurally verified as an astroblastoma, an uncommon neuroepithelial tumor of uncertain origin. Molecular analysis using 17 microsatellite markers on chromosomes 9, 10, 11, 17, 19, and 22 showed loss of heterozygosity at the D19S412 locus on the long arm of chromsome 19. This observation suggests that there is a tumor suppressor gene in this chromosomal region, which plays a role in the pathogenesis of astroblastoma. 相似文献
9.
Anusara Aranarochana Soraya Kaewngam Tanaporn Anosri Apiwat Sirichoat Wanassanun Pannangrong Peter Wigmore Jariya Umka Welbat 《Nutrients》2021,13(12)
Treatment with valproic acid (VPA) deteriorates hippocampal neurogenesis, which leads to memory impairment. Hesperidin (Hsd) is a plant-based bioflavonoid that can augment learning and memory. This study aimed to understand the effect of Hsd on the impairment of hippocampal neurogenesis and memory caused by VPA. The VPA (300 mg/kg) was administered by intraperitoneal injection twice daily for 14 days, and Hsd (100 mg/kg/day) was administered by oral gavage once a day for 21 days. All rats underwent memory evaluation using the novel object location (NOL) and novel object recognition (NOR) tests. Immunofluorescent staining of Ki-67, BrdU/NeuN, and doublecortin (DCX) was applied to determine hippocampal neurogenesis in cell proliferation, neuronal survival, and population of the immature neurons, respectively. VPA-treated rats showed memory impairments in both memory tests. These impairments resulted from VPA-induced decreases in the number of Ki-67-, BrdU/NeuN-, and DCX-positive cells in the hippocampus, leading to memory loss. Nevertheless, the behavioral expression in the co-administration group was improved. After receiving co-administration with VPA and Hsd, the numbers of Ki-67-, BrdU/NeuN-, and DCX-positive cells were improved to the normal levels. These findings suggest that Hsd can reduce the VPA-induced hippocampal neurogenesis down-regulation that results in memory impairments. 相似文献
10.
Narisorn Kongruttanachok Chutipa Phuangphairoj Araya Thongnak Wanpen Ponyeam Prakasit Rattanatanyong Wichai Pornthanakasem Apiwat Mutirangura 《Molecular cancer》2010,9(1):1-14