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Lohmann DR Gallie BL 《American journal of medical genetics. Part C, Seminars in medical genetics》2004,(1):23-28
Hereditary retinoblastoma is an autosomal dominant disorder caused by mutations in the RB1 gene. Analysis of this rare condition has helped to elucidate the mechanisms underlying hereditary cancer predisposition in general. As identification of RB1 gene mutations has become a part of clinical management of patients with retinoblastoma, there is now a wealth of data. In this article, we summarize the current knowledge on the relations between the genotype and phenotypic expression. Moreover, detailed analysis of genotype-phenotype relations shows that hereditary retinoblastoma has features of a complex trait. 相似文献
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O'Doherty M Lanigan B Breathnach F O'Meara A Gallie B Chan H O'Keefe M 《Irish medical journal》2005,98(1):17-20
The aim of this study was to look at the visual outcome and treatment complications of children diagnosed with Retinoblastoma during the years 1985-2003 inclusive. A retrospective review of all patients records was performed. Patient characteristics, treatment methods and complications were recorded. Twenty eight children presented to Temple street Hospital between 1985-2003. Six of these infants had bilateral tumours. The mean age at presentation was 23.7 months. Sixty-nine percent presented with Leucocoria, of these 33% also had a squint. The mean duration of symptoms was only known in 58% and this figure was approximately 19.8 months. Enucleation was performed in 24 eyes of 24 patients. Three patients required adjuvant chemotherapy post enucleation. Two eyes was treated with external beam radiation and one eye with plaque radiotherapy. One eye (second eye) was treated with systemic chemotherapy and radiation. Five eyes of three patients were treated with systemic chemotherapy followed by adjuvant Argon laser, cryotherapy and diode laser to each eye.The complications of each treatment group was recorded. The visual outcome in the salvaged eyes was favourable. There were no deaths recorded. Though chemotherapy with adjuvant local treatments provide adequate treatment for early tumours, enucleation still plays a major role in the treatment of Retinoblastoma. The total eye salvage rate in this study was 29% with an enucleation rate of 90% in unilateral cases and 33% in bilateral cases. Sixty-six percent of bilateral eyes affected were salvaged. Seventy-one percent of tumours were diagnosed after a parent noticed a gross abnormality of the eye. This highlights the possible need for screening for retinoblastoma in the infant population. 相似文献
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Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition. 总被引:15,自引:13,他引:15
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M F Hansen A Koufos B L Gallie R A Phillips O Fodstad A Br?gger T Gedde-Dahl W K Cavenee 《Proceedings of the National Academy of Sciences of the United States of America》1985,82(18):6216-6220
Survivors of the heritable form of retinoblastoma subsequently develop second primary osteosarcomas at substantially greater frequency than either the general population or survivors of nonheritable retinoblastoma. Here we present molecular genetic evidence that the development of these two disparate tumor types involves specific somatic loss of constitutional heterozygosity for the region of human chromosome 13 that includes the RB1 locus. Similar events occur during the genesis of nonheritable osteosarcoma but not in several other embryonal tumors or sarcomas. These findings suggest that a conceptual approach toward defining the number of genes whose recessive mutant forms predispose to cancer is the molecular genetic analysis of clinically associated tumor types. They also suggest that the molecular basis of mixed cancer families may be the differential expression of a single pleiotropic recessive mutation by tissue specific mitotic segregation abnormalities. 相似文献
6.
Increasing vitamin C content of plants through enhanced ascorbate recycling 总被引:35,自引:0,他引:35
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Chen Z Young TE Ling J Chang SC Gallie DR 《Proceedings of the National Academy of Sciences of the United States of America》2003,100(6):3525-3530
Vitamin C (ascorbic acid) is essential to prevent disease associated with connective tissue (e.g., scurvy), improves cardiovascular and immune cell functions, and is used to regenerate alpha-tocopherol (vitamin E). In contrast to most animals, humans lack the ability to synthesize ascorbic acid as a result of a mutation in the last enzyme required for ascorbate biosynthesis. Vitamin C, therefore, must be obtained from dietary sources and, because it cannot be stored in the body, it must be obtained regularly. Once used, ascorbic acid can be regenerated from its oxidized form in a reaction catalyzed by dehydroascorbate reductase (DHAR). To examine whether overexpression of DHAR in plants would increase the level of ascorbic acid through improved ascorbate recycling, a DHAR cDNA from wheat was isolated and expressed in tobacco and maize, where DHAR expression was increased up to 32- and 100-fold, respectively. The increase in DHAR expression increased foliar and kernel ascorbic acid levels 2- to 4-fold and significantly increased the ascorbate redox state in both tobacco and maize. In addition, the level of glutathione, the reductant used by DHAR, also increased, as did its redox state. These results demonstrate that the vitamin C content of plants can be elevated by increasing expression of the enzyme responsible for recycling ascorbate. 相似文献
7.
Brenda L. Gallie 《Ophthalmology》1980,87(6):591-595
Although the presence of the retinoblastoma (RB) gene is usually made obvious by bilateral RB tumors, unaffected relatives of RB patients and unilateral RB patients may also carry the gene. Patients with 13q14 deletion have RB, and segregation of RB with markers (Q-banding and Esterase D) on chromosome 13 can be studied in some two-generation RB families. Radiosensitivity of fibroblasts may be a marker or may be present only in chromosome 13 deletion patients. Growth properties of fibroblasts suggest that the RB gene itself is expressed in normal cells. Ultimately, gene-carrier detection may be achieved by defining gene expression, gene product, or by cloning the gene itself. 相似文献
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We describe a case of a 12-year-old boy who developed acute ischaemia of the entire scaphoid following simple trauma to the wrist. No fracture was evident; however, MRI and bone scintigraphy at the time of the injury revealed complete ischaemia of the scaphoid. A repeat MRI at 6 months showed evidence of incomplete revascularisation of the scaphoid. 相似文献