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排序方式: 共有141条查询结果,搜索用时 15 毫秒
1.
Van Roy N Van Gele M Vandesompele J Messiaen L Van Belle S Sciot R Mortéle K Gyselinck J Michiels E Forsyth R Van Marck E De Paepe A Speleman F 《Cancer Genetics and Cytogenetics》2003,143(2):120-124
Malignant peripheral nerve sheath tumors (MPNST) are rare soft-tissue malignancies. The genetic basis of these tumors is still poorly understood. Cytogenetic analyses predominantly revealed complex karyotypes, precluding the identification of recurrent chromosomal changes. We report loss of 1p material in a near-diploid karyotype with few or no additional structural chromosome changes in two sporadic cases of MPNST, indicating an important role of 1p loss in MPNST development. In one of these two tumors, a distal 1p deletion (1p31.2 approximately pter) was detected suggesting involvement of a tumor suppressor gene located within this distal region of 1p. Further evidence for recurrent 1p loss in MPNST was obtained by interphase fluorescence in situ hybridization, which showed loss of 1p material in 3 out of 13 tumors. These findings together with data from the literature suggest that loss of a tumor suppressor gene located within distal 1p is implicated in the pathogenesis of MPNST. 相似文献
2.
Concurrent DNA Copy‐Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients 下载免费PDF全文
Piotr Madanecki Rafal Bartoszewski Magdalena Bałut Barbara Seroczyńska Kinga Kochan Adam Bogdan Małgorzata Butkus Rafał Pęksa Magdalena Ratajska Alina Kuźniacka Bartosz Wasąg Magdalena Gucwa Maciej Krzyżanowski Janusz Jaśkiewicz Zbigniew Jankowski Lars Forsberg J. Renata Ochocka Janusz Limon Michael R. Crowley Patrick G. Buckley Ludwine Messiaen Jan P. Dumanski Arkadiusz Piotrowski 《Human mutation》2015,36(11):1088-1099
Somatic mosaicism for DNA copy‐number alterations (SMC‐CNAs) is defined as gain or loss of chromosomal segments in somatic cells within a single organism. As cells harboring SMC‐CNAs can undergo clonal expansion, it has been proposed that SMC‐CNAs may contribute to the predisposition of these cells to genetic disease including cancer. Herein, the gross genomic alterations (>500 kbp) were characterized in uninvolved mammary glandular tissue from 59 breast cancer patients and matched samples of primary tumors and lymph node metastases. Array‐based comparative genomic hybridization showed 10% (6/59) of patients harbored one to 359 large SMC‐CNAs (mean: 1,328 kbp; median: 961 kbp) in a substantial portion of glandular tissue cells, distal from the primary tumor site. SMC‐CNAs were partially recurrent in tumors, albeit with considerable contribution of stochastic SMC‐CNAs indicating genomic destabilization. Targeted resequencing of 301 known predisposition and somatic driver loci revealed mutations and rare variants in genes related to maintenance of genomic integrity: BRCA1 (p.Gln1756Profs*74, p.Arg504Cys), BRCA2 (p.Asn3124Ile), NCOR1 (p.Pro1570Glnfs*45), PALB2 (p.Ser500Pro), and TP53 (p.Arg306*). Co‐occurrence of gross SMC‐CNAs along with point mutations or rare variants in genes responsible for safeguarding genomic integrity highlights the temporal and spatial neoplastic potential of uninvolved glandular tissue in breast cancer patients. 相似文献
3.
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach 下载免费PDF全文
Bruce Korf Reza Ahmadian Judith Allanson Yoko Aoki Annette Bakker Emma Burkitt Wright Brian Denger Ype Elgersma Bruce D. Gelb Karen W. Gripp Bronwyn Kerr Maria Kontaridis Conxi Lazaro Corinne Linardic Reymundo Lozano Calum A. MacRae Ludwine Messiaen Sonia Mulero‐Navarro Benjamin Neel Scott Plotkin Katherine A. Rauen Amy Roberts Alcino J. Silva Sitta G. Sittampalam Chao Zhang Lisa Schoyer 《American journal of medical genetics. Part A》2015,167(8):1741-1746
4.
Charlotte Debbaut Patrick Segers Pieter Cornillie Christophe Casteleyn Manuel Dierick Wim Laleman Diethard Monbaliu 《Journal of anatomy》2014,224(4):509-517
Although a full understanding of the hepatic circulation is one of the keys to successfully perform liver surgery and to elucidate liver pathology, relatively little is known about the functional organization of the liver vasculature. Therefore, we materialized and visualized the human hepatic vasculature at different scales, and performed a morphological analysis by combining vascular corrosion casting with novel micro‐computer tomography (CT) and image analysis techniques. A human liver vascular corrosion cast was obtained by simultaneous resin injection in the hepatic artery (HA) and portal vein (PV). A high resolution (110 μm) micro‐CT scan of the total cast allowed gathering detailed macrovascular data. Subsequently, a mesocirculation sample (starting at generation 5; 88 × 68 × 80 mm³) and a microcirculation sample (terminal vessels including sinusoids; 2.0 × 1.5 × 1.7 mm³) were dissected and imaged at a 71‐μm and 2.6‐μm resolution, respectively. Segmentations and 3D reconstructions allowed quantifying the macro‐ and mesoscale branching topology, and geometrical features of HA, PV and hepatic venous trees up to 13 generations (radii ranging from 13.2 mm to 80 μm; lengths from 74.4 mm to 0.74 mm), as well as microvascular characteristics (mean sinusoidal radius of 6.63 μm). Combining corrosion casting and micro‐CT imaging allows quantifying the branching topology and geometrical features of hepatic trees using a multiscale approach from the macro‐ down to the microcirculation. This may lead to novel insights into liver circulation, such as internal blood flow distributions and anatomical consequences of pathologies (e.g. cirrhosis). 相似文献
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De Spiegelaere W Casteleyn C Van den Broeck W Plendl J Bahramsoltani M Simoens P Djonov V Cornillie P 《Journal of vascular research》2012,49(5):390-404
Angiogenesis, i.e. the development and growth of blood vessels, is a major topic of research as it plays an important role in normal development and in various pathologies. Recent evidence revealed the existence of different mechanisms of blood vessel growth, including sprouting and intussusceptive angiogenesis, vascular mimicry, and blood vessel cooption. The latter two have only been observed in tumor growth, but sprouting and intussusceptive angiogenesis also occur in healthy, physiologically growing tissues. Despite this variety of angiogenic mechanisms, most of the current research is focused on the mechanism of sprouting angiogenesis because this mechanism was first described and because most existing experimental models are related to sprouting angiogenesis. Consequently, the mechanism of intussusceptive angiogenesis is often overlooked in angiogenesis research. Here, the mechanism of intussusceptive angiogenesis is reviewed and the current techniques and models for investigating intussusceptive angiogenesis are summarized. In addition, other mechanisms of vascular growth are briefly reviewed. 相似文献
7.
Current practice in primary total hip replacement was investigated by postal survey in 125 university hospitals of the European Union (EU). Most hospitals (78.4%) use a hip register and implant cemented as well as uncemented stems (72.0%) and cups (68.8%). In Scandinavian & Anglo-Saxon countries, 42.9% of the departments implant cemented stems in all their patients, and 16.7% implant cemented cups in all their patients. In these countries, modern cementing techniques are commonly used and therapeutic choices are strongly influenced by hip registers. In Southern Europe, cemented cups have been abandoned in 31.1% and modern cementing techniques are less common. Benelux & Germanic countries have a practice in between. Three cemented (Exeter, Charnley, Lubinus) and three uncemented stems (Zweymüller, ABG, Bi-contact) represent 41.9% and 25.3% of stem types in use. Most departments (70.4%) have adopted alternative bearings. Ceramic-ceramic and metal-metal are both used in almost half of the hospitals. Metal-polyethylene has been abandoned in 15.2%. These trends are taught to new generations of surgeons in the EU and could become common practice in a near future. 相似文献
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10.
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer 下载免费PDF全文
Xia Wang Jamie K. Teer Renee N. Tousignant Albert M. Levin David Boulware Dhananjay A. Chitale Brandon M. Shaw Zhihua Chen Yonghong Zhang Jaishri O. Blakeley Maria T. Acosta Ludwine M. Messiaen Bruce R. Korf Michael A. Tainsky 《Genes, chromosomes & cancer》2018,57(1):19-27
NF1 mutations predispose to neurofibromatosis type 1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exome sequencing (WES), targeted genomic DNA based and RNA‐based analysis of the NF1 gene. Deleterious NF1 pathogenic variants were identified in each woman. Frameshift mutations because of deletion/duplication/complex rearrangement were found in 50% (7/14) of the cases, nonsense mutations in 21% (3/14), in‐frame splice mutations in 21% (3/14), and one case of missense mutation (7%, 1/14). No deleterious mutation was found in the following high/moderate‐penetrance breast cancer genes: ATM, BRCA1, BRCA2, BARD1, BRIP1, CDH1, CHEK2, FANCC, MRE11A, NBN, PALB2, PTEN, RAD50, RAD51C, TP53, and STK11. Twenty‐five rare or common variants in cancer related genes were discovered and may have contributed to the breast cancers in these individuals. Breast cancer predisposition modifiers in women with NF1 may involve a great variety of molecular and cellular functions. 相似文献