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191.
伴t(1;7)易位骨髓增生异常综合征的双色荧光原位杂交研究 总被引:2,自引:0,他引:2
目的 通过对5例伴有t(1;7)易位的骨髓增生异常综合征(myelodysplastic syndromes,MDS)患者进行研究,并进一步确定易位杂色体着丝粒的组成和来源。方法 采用骨髓细胞直接法或短期培养法制备染色体,应用R显带技术进行核型分析,应用荧光素SpectrumRed标记的1号染色体着丝粒特异性α卫生DNA探针和荧光素SpectrumGreen标记的7号染色体着丝粒特异性α卫星DNA探针,对其中3例患者进行双色荧光原位杂交(fluorescence in situ hybridization,FISH)研究。结果 5例患者均有t(1;7)易位。双色FISH显示其中3例患者t(1;7) 位所致衍生染色体的着丝粒均由红绿两个信号融合而成。结论 双色FISH证实MDS患者t(1;7)易位染色体着丝粒由1号和7号染色体着丝粒共同组成。 相似文献
192.
目的报告一例伴有t(1;18)(p31;p11)的骨髓增生异常综合征(myelodysplastic syndrome,MDS)。方法骨髓细胞24h培养后按常规方法制备染色体,采用R显带技术进行染色体核型分析;以1号和18号整条染色体涂染探针对其进行染色体涂染检测。结果常规细胞遗传学方法和染色体涂染分析均证实该患者具有t(1;18)(p31;p11)克隆性染色体异常。结论t(1;18)(p31;p11)易位是一种罕见的再现性染色体核型异常,在MDS中属于首次报道。 相似文献
193.
患者男性 ,73岁。因头晕、乏力 9个月于 1999年 9月来我院就诊 ,此前曾在外院就诊服用叶酸、维生素B12 2个月无效。体检除贫血表现外无其他异常体征 ,查血常规为血红蛋白 5 5g/L ,白细胞 8 4× 10 9/L ,血小板 2 4 6× 10 9/L ,中性粒细胞 0 6 3,淋巴细胞 0 32 ,单核细胞 0 0 5 ;骨髓检查示增生明显活跃 ,粒红比为 2 9 4 :1 0 ,分类原粒细胞 0 0 15 ,早幼粒细胞 0 0 4 0 ,中幼粒细胞 0 195 ,晚幼粒细胞 0 10 5 ,杆状核细胞 0 36 5 ,分叶核粒细胞 0 0 75 ;原始红细胞 0 0 0 5 ,早幼红细胞 0 0 0 5 ,中幼红细胞以下阶段缺如 ;成… 相似文献
194.
Objective To establish and characterize a novel human myeloid leukemia cell line SH-2. Methods Bone marrow mononuclear cells(BMMNC) isolated from a AML-M2 patient, who failed to ob-tain complete remission after chemotherapy and allogenic bone marrow transplantation were passed in a long term IMDM culture medium supplemented with 20% fetal calf serum. Stromal cells were retained and rh-IL-3was added in the culture system. A new human myeloid leukemia cell line SH-2 was successfully established with a cytogeuetic characteristics of a loss of Y chromosome(- Y), a derivative chromosome 16 resulting from unbalanced translocation between chromosome 16 and 17, monosome 17, trisomy 19 and p53 alteration. Vari-ous methods were employed to characterize SH-2 cell line. Results SH-2 cells has been maintained without cytokine and stromal cells for more than 3 years without EB virus and mycoplasma contamination. SH-2 cells had the basically same morphological, immunophenotypic and cytogenetic features as the patient' s leukemia cells did, such as myeloid morphology, an immunophenotype of CD13+ , CD33+ , CD56+ , CD16/56+ and a hypodiploid karyotype of 45, X, - Y, der(16) t(16;17) (q24;q12) , - 17, + 19, which were gradually de-creased and replaced by the near-tetraploid cells with a karyotype of 73 - 102 (80), XX, - Y, - Y, del (lq31) ×2, der(16)t(16;17) (q24;q12) ×2, - 17, - 17, + 19, + 19. FISH and multiple FISH delineated all the abnormalities and revealed a loss of one p53 allele due to monosomy 17. DNA direct sequencing detec-ted a point mutation of CAG to CAT at codon 576 of exon 5 in another p53 allele. RT-PCR showed that SH-2 cells expressed apoptosis-related genes (bcl-2, Fas, GST- π and p21) rather than MDR-related genes. Short tandem repeat PCR provided powerful evidence for the derivation of SH-2 cell line from the patient' s leukemia cells. SH-2 cells had certain colony formation and tumorigenic capacities in nude and SCID mice. Conclu-sion SH-2 is a new myeloid leukemia cell line with a unique biology background, and will provide a useful tool for leukemia research. 相似文献
195.
多重荧光原位杂交检测骨髓增生异常综合征患者复杂核型异常 总被引:12,自引:3,他引:12
目的 探讨多重荧光原位杂交(M-FISH)技术存骨髓增牛异常综合征(MDS)患者复杂核型异常检测中的应用价值。方法 对10例常规R显带具有复杂染色体异常(CCA)的MDS患者应用M-FISH确定复杂染色体的重排及标记染色体的组成,识刖并确定微小易位。结果 M-FISH共检出37种结构重排,包括插入易位、缺夫、易值及衍生染色体,其中34种为不平衡重排;3种为平衡重排,包括:t(6;22)(q21;q12)、t(9;19)(q13;p13)和t(3;5)(?;?),有7种重排文献未见报道,涉及17号染色体的异常及-5/5q-最为常见(10例患者中两种异常各占7例)。结论 对伴有CCA的MDS患者M-FISH技术可以明确常规细胞遗传学(CC)分析中复杂染色体异常,并发现和纠正CC分析中漏检及误检的异常,为MDS患者染色体异常的分析提供了一种较理想的方法。 相似文献
196.
Objective To establish and characterize a novel human myeloid leukemia cell line SH-2. Methods Bone marrow mononuclear cells(BMMNC) isolated from a AML-M2 patient, who failed to ob-tain complete remission after chemotherapy and allogenic bone marrow transplantation were passed in a long term IMDM culture medium supplemented with 20% fetal calf serum. Stromal cells were retained and rh-IL-3was added in the culture system. A new human myeloid leukemia cell line SH-2 was successfully established with a cytogeuetic characteristics of a loss of Y chromosome(- Y), a derivative chromosome 16 resulting from unbalanced translocation between chromosome 16 and 17, monosome 17, trisomy 19 and p53 alteration. Vari-ous methods were employed to characterize SH-2 cell line. Results SH-2 cells has been maintained without cytokine and stromal cells for more than 3 years without EB virus and mycoplasma contamination. SH-2 cells had the basically same morphological, immunophenotypic and cytogenetic features as the patient' s leukemia cells did, such as myeloid morphology, an immunophenotype of CD13+ , CD33+ , CD56+ , CD16/56+ and a hypodiploid karyotype of 45, X, - Y, der(16) t(16;17) (q24;q12) , - 17, + 19, which were gradually de-creased and replaced by the near-tetraploid cells with a karyotype of 73 - 102 (80), XX, - Y, - Y, del (lq31) ×2, der(16)t(16;17) (q24;q12) ×2, - 17, - 17, + 19, + 19. FISH and multiple FISH delineated all the abnormalities and revealed a loss of one p53 allele due to monosomy 17. DNA direct sequencing detec-ted a point mutation of CAG to CAT at codon 576 of exon 5 in another p53 allele. RT-PCR showed that SH-2 cells expressed apoptosis-related genes (bcl-2, Fas, GST- π and p21) rather than MDR-related genes. Short tandem repeat PCR provided powerful evidence for the derivation of SH-2 cell line from the patient' s leukemia cells. SH-2 cells had certain colony formation and tumorigenic capacities in nude and SCID mice. Conclu-sion SH-2 is a new myeloid leukemia cell line with a unique biology background, and will provide a useful tool for leukemia research. 相似文献
197.
以t(Y;1)(q12;q21)为特征的骨髓纤维化一例的染色体涂抹研究 总被引:3,自引:0,他引:3
患者 ,男 ,4 9岁 ,因贫血来院就诊。查体 :贫血貌 ,胸骨压痛 (- ) ,脾肋缘下 2cm。血常规 :WBC 5 .8× 10 4/L ,Hb 6 4g/L ,BPC 6 1× 10 9/L。血细胞分类 :原始细胞 0 .0 8,有核红细胞 8/ 10 0个白细胞。NAP积分 118。骨髓穿刺髂前、胸骨均干抽。骨髓活检结果 :骨髓造血组织三系细胞均可见 ,巨核细胞数明显增多 ,各系细胞形态未见明显异常 ,网状纤维明显增生。诊断为原发性骨髓纤维化 (MF)。采用外周血 4 8h培养法 ,按常规制备染色体。应用R显带技术进行核型分析 ,结果 2 0个中期分裂象均为 4 6 ,X ,der(Y)t(Y ;1) (q12 ;q2 1) ,de… 相似文献
198.
目的:总结伴有inv(16)/t(16;16)(p13.1;q22)的急性髓系白血病(AML)患者临床及实验室特征,并分析影响患者预后的危险因素。方法:回顾性分析2008年1月1日至2019年10月30日苏州大学附属第一医院血液科收治的151例伴有inv(16)/t(16;16)(p13.1;q22)和/或CBFβ-MYH11+的AML患者,记录所有患者临床及实验室指标、治疗方案及疗效评估,分析影响其总体生存(OS)、无事件生存(EFS)的相关因素。结果:在151例伴有inv(16)/t(16;16)(p13.1;q22)和/或CBFβ-MYH11+的AML患者中,伴有附加染色体异常占比约27.8%,其中最常见为+22(33例,21.8%),其次为+8(11例,7.3%);完善NGS检查者有112例,最常见的伴随基因突变为KIT突变(34例,30.4%)和FLT3突变(23例,20.5%)。单因素分析显示,初诊时中性粒细胞数(NE)≤0.5×109/L(P=0.006)、合并K-RAS突变(P=0.002)是影响EFS的... 相似文献
199.
目的:研究荧光原位杂交(fluorescence in situhybridization,FISH)检测维A酸受体α(RARα)基因重排对于急性早幼粒细胞白血病(acute promyelocytic leukemia,APL)的诊断价值。方法:对骨髓形态学检查呈典型的APL改变而常规染色体R显带核型分析t(15;17)及RT-PCR检测RARα基因重排两者皆为阴性的4例急性白血病患者采用双色荧光原位杂交检测RARα基因的重排。结果:2例FISH检测为阴性,1例80%的细胞中显示早幼粒白血病基因(PML)/RARα融合信号,1例PML/RARα融合基因信号阴性,但99.8%的细胞显示RARα基因17q21断裂点以下基因的复制及重排。结论:应用FISH技术可以在部分APL患者中检出核型及RT-PCR技术无法检出的RARα基因重排,有助于APL的确诊。 相似文献