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排序方式: 共有294条查询结果,搜索用时 15 毫秒
1.
目的研究杜氏/贝氏进行性肌营养不良(DMD/BMD)携带者视网膜眼电图(ERG)的改变,探讨ERG对DMD/BMD携带者的诊断意义。方法对22个基因突变类型明确的DMD/BMD家系.用定量PCR法结合系谱分析将家系中女性成员分成肯定携带者和非携带者,对患者和家系女性成员进行详细的眼科检查和ERG检测,并用ERG国际测量标准记录结果。结果22名患者中17名出现异常ERG改变;11名肯定携带者中5名出现ERG异常,14名非携带者无ERG改变,两组无重叠。结论ERG是一项对DMD/BMD诊断非常敏感和特异的检查,而ERG对携带者的诊断也具有一定的临床意义。 相似文献
2.
Joncourt F Neuhaus B Jostarndt-Foegen K Kleinle S Steiner B Gallati S 《Human mutation》2004,23(4):385-391
Recently developed PCR systems offer online-monitoring of amplification and allow simple and reliable DNA quantification. We have used the LightCycler system to develop a simple and rapid method for direct identification of female carriers of deletions and duplications in the dystrophin gene. The challenge resides in the ability to identify the presence of a deleted or duplicated allele over the background contributed by the normal allele. Quantification is based on the determination of the ratio between potentially deleted/duplicated dystrophin exons and non-deleted/-duplicated reference exons using the unspecific dsDNA-dye SYBRgreen I. In a retrospective study, we evaluated our method in female relatives of DMD/BMD patients with known carrier status by comparative analysis of deleted or duplicated versus non-deleted/-duplicated exons. Carrier status was accurately attributed in 100% of cases, the mean ratios being 0.52+/-0.12 for deletion carriers (expected value: 0.5) and 1.56+/-0.18 for duplication carriers (expected value: 1.5) vs. 1.022+/-0.17 for non-carriers (expected value: 1.0). The method proved to be simple, rapid, reliable, and cost-effective. It may be used for direct determination of deletions/duplications in potential DMD/BMD carriers and may easily be adapted for other genetic conditions involving deletions and duplications. 相似文献
3.
We performed genetic analysis for carrier detection for several at-risk females in a four-generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determine the carrier status of female relatives of DMD patients shown to have a deletion within the DMD gene. Subsequently, we diagnosed an affected male fetus for an at-risk female shown to be a DMD carrier by deletion analysis. The usefulness of deletion and linkage analysis are compared. In this family, linkage analysis was complicated by the unavailability of key family members, two recombination events and by previously undisclosed nonpaternity. We found that dosage analysis was more efficient than linkage for carrier evaluation in this family. 相似文献
4.
Sergio E Baranzini Florencia Giliberto Viviana Dalamon Cristina Barreiro Marcela García-Erro Jorge Grippo Irene Szijan 《Clinical genetics》1998,54(6):503-511
In order to offer carrier detection, genetic counseling, and prenatal diagnosis to families with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in our country, segregation analysis of highly polymorphic short tandem repeats (STR) (dC-dA)n: (dG-dT)n loci was utilized. The risks to females of 15 DMD/BMD families (9 familial and 6 sporadic) were evaluated on STR, pedigree and serum creatine kinase (SCK) data. From the 36 females at risk of being carriers (not including 8 obligate carriers), results of STR analysis were compatible with carrier status in 7 and not compatible in 20. In 9 females, no information regarding carriership was derived from the STR analysis. Prenatal diagnosis is now possible on the carrier females. Previously identified deletions in the central part of the gene were confirmed by STR analysis in 3 families. Five new alleles were identified in Argentine individuals; allele frequencies differed from those of North American people. Results derived from this study are useful for carrier detection and genetic counseling in DMD/BMD. One case of probable mosaicism in an unaffected father was detected on a pedigree basis in a family with DMD patients. 相似文献
5.
Hofstra RM Mulder IM Vossen R de Koning-Gans PA Kraak M Ginjaar IB van der Hout AH Bakker E Buys CH van Ommen GJ van Essen AJ den Dunnen JT 《Human mutation》2004,23(1):57-66
Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with approximately 60% carrying deletions and 5-10% carrying duplications. Most of the remaining 30-35% of patients are expected to have small nucleotide substitutions, insertions, or deletions. To detect these subtle changes within the coding and splice site determining sequences of the dystrophin gene, we established a semiautomated denaturing gradient gel electrophoresis (DGGE) mutation scanning system. The DGGE scan covers the dystrophin gene with 95 amplicons, PCRed either individually or in a multiplex setup. PCR and pooling were performed semiautomatically, using a pipetting robot and 384-well plates, enabling concurrent amplification of DNA of four patients in one run. Amplification of individual fragments was performed using one PCR program. The products were pooled just before gel loading; DGGE requires only a single gel condition. Validation was performed using DNA samples harboring 39 known DMD variants, all of which could be readily detected. DGGE mutation scanning was applied to analyze 135 DMD/BMD patients and potential DMD carriers without large deletions or duplications. In DNA from 25 out of 44 DMD patients (57%) and from 5 out of 39 BMD patients (13%), we identified clear pathogenic changes. All mutations were different, with the exception of one DMD mutation, which occurred twice. In DNA from 10 out of 44 potential DMD carriers, including four obligate carriers, we detected causative changes, including one pathogenic change in every obligate carrier. In addition to these pathogenic changes, we detected 15 unique unclassified variants, i.e., changes for which a pathogenic nature is uncertain. 相似文献
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7.
目的检测肌营养不良症患者的血清血管生长因子(VEGF)水平,鉴定其是否与肌营养不良症的疾病发展有关。方法对46例肌营养不良患者,其中32例Duchenne肌营养不良症(DMD)、9例Becker肌营养不良症(BMD)、5例强直性肌营养不良症(DM)患者的血清VEGF水平进行检测。15例健康人和8例疾病患者为对照组。结果DMD患者血清VEGF为(274.7±2.52)pg/ml,BMD患者的为(358.8±9.64)pg/ml,DM患者为(165.0±6.34)pg/ml,而健康对照组为(148.3±2.91)pg/ml,疾病对照组为(153.7±5.42)pg/ml。与DM组和对照组相比,BMD的VEGF水平显著提高。而DMD组中卧床的患者相对于坐轮椅的DMD、DM组和对照组则VEGF水平显著升高。结论VEGF可以反映肌肉组织低氧和/或缺血状况,并且与DMD和BMD患者的疾病发展过程有关。 相似文献
8.
9.
Aliya Ishmukhametova Jian‐Min Chen Rafaëlle Bernard Bernard de Massy Frédéric Baudat Amandine Boyer Déborah Méchin Delphine Thorel Brigitte Chabrol Marie‐Claire Vincent Mireille Claustres Sylvie Tuffery‐Giraud 《Human mutation》2013,34(8):1080-1084
Pathogenic complex genomic rearrangements are being increasingly characterized at the nucleotide level, providing unprecedented opportunities to evaluate the complexities of mutational mechanisms. Here, we report the molecular characterization of a complex duplication–triplication rearrangement involving exons 45–60 of the DMD gene. Inverted repeats facilitated this complex rearrangement, which shares common genomic organization with the recently described duplication‐inverted triplication–duplication (DUP–TRP/INV‐DUP) events; specifically, a 690‐kb region comprising DMD exons from 45 to 60 was duplicated in tandem, and another 46‐kb segment containing exon 51 was inserted inversely in between them. Taking into consideration (1) the presence of a predicted PRDM9 binding site in the near vicinity of the junction involving two inverted L1 elements and (2) the inherent properties of X–Y chromosome recombination during male meiosis, we proposed an alternative two‐step model for the generation of this X‐linked DMD DUP–TRP/INV‐DUP event. 相似文献
10.
目的 探讨亚临床甲状腺功能减退 (SCH)与T2DM慢性并发症的关系。 方法 将1294例T2DM患者分为SCH组和甲状腺功能正常组,比较两组间慢性并发症患病率及患者的甲状腺功能,采用Logistic多元回归分析SCH与糖尿病慢性并发症的关系。 结果18.8%的T2DM患者合并SCH。SCH组糖尿病慢性肾脏疾病(CKD)、DR、糖尿病周围神经病变(DPN)和糖尿病足病(DF)患病率均高于甲状腺功能正常组(P〈0.05);CKD、DR和DPN患者FT3下降,促甲状腺激素(TSH)升高(P〈0.05)。Logistic多元回归分析显示,SCH为CKD的独立危险因素(OR=3.39,P=0.012)。 结论 T2DM合并SCH 患者CKD、DR、DPN和DF患病率升高。SCH是CKD的独立危险因素。 相似文献