全文获取类型
收费全文 | 79篇 |
免费 | 6篇 |
专业分类
儿科学 | 1篇 |
基础医学 | 14篇 |
临床医学 | 15篇 |
内科学 | 11篇 |
皮肤病学 | 3篇 |
神经病学 | 3篇 |
特种医学 | 3篇 |
外科学 | 8篇 |
综合类 | 1篇 |
预防医学 | 4篇 |
眼科学 | 5篇 |
药学 | 8篇 |
肿瘤学 | 9篇 |
出版年
2023年 | 2篇 |
2022年 | 7篇 |
2021年 | 4篇 |
2020年 | 3篇 |
2019年 | 3篇 |
2018年 | 5篇 |
2017年 | 5篇 |
2016年 | 2篇 |
2014年 | 6篇 |
2013年 | 8篇 |
2012年 | 7篇 |
2011年 | 12篇 |
2010年 | 2篇 |
2009年 | 2篇 |
2008年 | 1篇 |
2007年 | 3篇 |
2006年 | 3篇 |
2005年 | 2篇 |
2004年 | 3篇 |
2003年 | 3篇 |
2002年 | 1篇 |
1987年 | 1篇 |
排序方式: 共有85条查询结果,搜索用时 15 毫秒
1.
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID) 总被引:3,自引:0,他引:3
下载免费PDF全文
![点击此处可从《The Journal of clinical investigation》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Garibyan L Lobito AA Siegel RM Call ME Wucherpfennig KW Geha RS 《The Journal of clinical investigation》2007,117(6):1550-1557
B cells from patients with common variable immunodeficiency (CVID) who are heterozygous for transmembrane activator and CAML interactor (TACI) mutation C104R, which abolishes ligand binding, fail to produce Igs in response to TACI ligand. It is not known whether this is due to haploinsufficiency or dominant interference. Using in vitro transfection assays, here we demonstrate that C104R and the corresponding murine TACI mutant, C76R, which also does not bind ligand, dominantly interfere with TACI signaling. This effect was dependent on preassociation of the mutants with WT TACI in the absence of ligand. The mutants did not interfere with ligand binding by WT TACI, suggesting that they may act by disrupting ligand-induced receptor rearrangement and signaling. This work demonstrates that TACI preassembles as an oligomeric complex prior to ligand binding and provides a mechanistic insight into how the heterozygous C104R TACI mutation can potentially lead to CVID. 相似文献
2.
3.
Yoshie Yoshikawa Yusuke Yamada Mitsuru Emi Lilit Atanesyan Jan Smout Karel de Groot Suvi Savola Yukako NakanishiShinkai Akihiro Kanematsu Michio Nojima Masaki Ohmuraya Tomoko HashimotoTamaoki Shingo Yamamoto 《Cancer science》2022,113(1):297
Precise quantification of copy‐number alterations (CNAs) in a tumor genome is difficult. We have applied a comprehensive copy‐number analysis method, digital multiplex ligation‐dependent probe amplification (digitalMLPA), for targeted gene copy‐number analysis in clear cell renal cell carcinoma (ccRCC). Copy‐number status of all chromosomal arms and 11 genes was determined in 60 ccRCC samples. Chromosome 3p loss and 5q gain, known as early changes in ccRCC development, as well as losses at 9p and 14q were detected in 56/60 (93.3%), 31/60 (51.7%), 11/60 (18.3%), and 33/60 (55%), respectively. Through gene expression analysis, a significant positive correlation was detected in terms of 14q loss determined using digitalMLPA and downregulation of mRNA expression ratios with HIF1A and L2HGDH (P = .0253 and .0117, respectively). Patients with early metastasis (<1 y) (n = 18) showed CNAs in 6 arms (in median), whereas metastasis‐free patients (n = 34) showed those in significantly less arms (3 arms in median) (P = .0289). In particular, biallelic deletion of CDKN2A/2B was associated with multiple CNAs (≥7 arms) in 3 tumors. Together with sequence‐level mutations in genes VHL, PBRM1, SETD2, and BAP1, we performed multiple correspondence analysis, which identified the association of 9p loss and 4q loss with early metastasis (both P < .05). This analysis indicated the association of 4p loss and 1p loss with poor survival (both, P < .05). These findings suggest that CNAs have essential roles in aggressiveness of ccRCC. We showed that our approach of measuring CNA through digitalMLPA will facilitate the selection of patients who may develop metastasis. 相似文献
4.
Raya Saab MD Anas Obeid MD Fatiha Gachi MD Houda Boudiaf MD Lilit Sargsyan MD Khulood Al-Saad MD Tamar Javakhadze MD Azim Mehrvar MD Sawsan Sati Abbas MD Yasir Saadoon Abed Al-Agele MD Salma Al-Haddad MD Mouroge Hashim Al Ani MD Suleiman Al-Sweedan MD Amani Al Kofide MD Wasil Jastaniah MD Nisreen Khalifa MD Elie Bechara MD Malek Baassiri MD Peter Noun MD Jamila El-Houdzi MD Mohammed Khattab MD Krishna Sagar Sharma MD Yasser Wali MD Naureen Mushtaq MD Aliya Batool MD Mahwish Faizan MD Muhammad Rafie Raza MD Mohammad Najajreh MD Mohammed Awad Mohammed Abdallah MD Ghada Sousan MD Khaled M. Ghanem MD Ulker Kocak MD Tezer Kutluk MD Hacı Ahmet Demir MD Hamoud Hodeish MD Samar Muwakkit MD Asim Belgaumi MD Abdul-Hakim Al-Rawas MD Sima Jeha MD 《Cancer》2020,126(18):4235-4245
5.
6.
7.
8.
Richard Lindstrom Richard Lewis Dana M. Hornbeak Lilit Voskanyan Jane Ellen Giamporcaro John Hovanesian Steven Sarkisian 《Advances in therapy》2016,33(11):2082-2090
Introduction
The study objective was to evaluate the intraocular pressure (IOP) and medication-lowering effect of 2 second-generation trabecular micro-bypass stents in eyes with open-angle glaucoma (OAG) on one preoperative medication.Methods
Fifty-seven qualified phakic eyes with OAG on 1 medication, preoperative medicated IOP of 18–30 mmHg, and preoperative unmedicated (post-washout) IOP of 22–38 mmHg underwent implantation of 2 second-generation trabecular micro-bypass stents in a standalone procedure. Evaluations included IOP, best-corrected visual acuity, medication use, fundus and slit lamp examinations, visual field, cup to disc ratio, pachymetry, and complications and interventions. Subjects have been followed for 18 months, and follow-up is ongoing.Results
At Month 12 postoperative, 100% of eyes had achieved an IOP reduction ≥20% (100% had IOP ≤18 mmHg and 67% had IOP ≤15 mmHg) without medication versus preoperative unmedicated IOP, and 75% had IOP reduction ≥20% without medication versus preoperative medicated IOP. The Month 12 mean unmedicated IOP had decreased by 42%, to 14.2 ± 1.9 mmHg vs 24.4 ± 1.3 mmHg preoperatively, and this reduction was maintained through 18 months (14.4 ± 2.1 mmHg). A high safety profile was observed.Conclusion
In this prospective, open-label, single-arm study, the standalone implantation of two second-generation trabecular micro-bypass stents in OAG patients on 1 preoperative medication resulted in IOP reduction to ≤15 mmHg and elimination of medication through 18 months, with favorable safety.Trial Registration
ClinicalTrials.gov identifier, NCT02868190.Funding
Glaukos Corporation, San Clemente, CA.9.
Lilit Voskanyan Julián García-Feijoó Jose I. Belda Antonio Fea Anselm Jünemann Christophe Baudouin 《Advances in therapy》2014,31(2):189-201
Introduction
Micro-invasive glaucoma surgical implantation of trabecular micro-bypass stents, previously shown to be safe and effective for open-angle glaucoma (OAG) subjects during cataract surgery, was considered for evaluation as a sole procedure. The aim of this study was to evaluate the safety and intraocular pressure (IOP)-lowering efficacy after ab interno implantation of two Glaukos Trabecular Micro-Bypass iStent inject second generation devices in subjects with OAG. This study was performed at sites in France, Germany, Italy, Republic of Armenia, and Spain.Methods
In this pan-European, multi-center prospective, post-market, unmasked study, 99 patients with OAG on at least two topical ocular hypotensive medications who required additional IOP lowering to control glaucoma disease underwent implantation of two GTS400 stents in a stand-alone procedure. Patients were qualified if they presented with preoperative mean IOP between 22 and 38 mmHg after medication washout. Postoperatively, subjects were assessed at Day 1, Months 1, 3, 6, 7, 9, and 12. IOP, medication use and safety were assessed at each visit.Results
Sixty-six percent of subjects achieved IOP ≤18 mmHg at 12 months without medication, and 81% of subjects achieved Month 12 IOP ≤ 18 mmHg with either a single medication or no medication. Mean baseline washout IOP values decreased by 10.2 mmHg or 39.7% from 26.3 (SD 3.5) mmHg to 15.7 (SD 3.7) mmHg at Month 12. Mean IOP at 12 months was 14.7 (SD 3.1) mmHg in subjects not using ocular hypotensive medications. Reduction from preoperative medication burden was achieved in 86.9% of patients, including 15.2% with reduction of one medication and 71.7% with reduction of two or more medications. Postoperative complications occurred at a low rate and resolved without persistent effects.Conclusion
In this series, implantation of two trabecular micro-bypass second generation stents in subjects with OAG resulted in IOP and medication reduction and favorable safety outcomes. 相似文献10.
Review articles comprehensively covering a specific topic are crucial for successful research and academic projects. Most
editors consider review articles for special and regular issues of journals. Writing a review requires deep knowledge and
understanding of a field. The aim of this review is to analyze the main steps in writing a narrative biomedical review and
to consider points that may increase the chances of success. We performed a comprehensive search through MEDLINE, EMBASE,
Scopus, and Web of Science using the following keywords: review of the literature, narrative review, title, abstract, authorship,
ethics, peer review, research methods, medical writing, scientific writing, and writing standards. Opinions expressed in the
review are also based on personal experience as authors, peer reviewers, and editors. 相似文献