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排序方式: 共有109条查询结果,搜索用时 15 毫秒
1.
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. 总被引:26,自引:0,他引:26
The fragile-X syndrome is the most frequent inherited form of mental retardation, with an incidence of 1 in 1,500 males. It is characterized by the presence of a fragile site at Xq27.3 induced in vitro by folate deprivation or by inhibitors of deoxynucleotide synthesis. Its mode of inheritance is unusual for an X-linked trait, with incomplete penetrance in both males and females. Some phenotypically normal males transmit the mutation to all their daughters who rarely express any symptoms, but penetrance is high in sons and daughters of these carrier women. Genetic and physical mapping of the Xq27-q28 region has confirmed that the disease locus is located at or very near the fragile site. Hypotheses proposed to account for the abnormalities in the inheritance of the disease include sequence rearrangements by meiotic recombination or a mutation that affects reactivation of an inactive X chromosome during differentiation of female germ cells. To detect such rearrangements, or methylation changes that may reflect a locally inactive X chromosome, we used pulsed-field gel analysis of DNA from fragile-X patients with probes close to the fragile-X locus. The probe Do33 (DXS465) detected abnormal patterns in fragile-X patients, but not in normal controls or in non-expressing male transmitters. 相似文献
2.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy 总被引:4,自引:0,他引:4
Nicot AS Toussaint A Tosch V Kretz C Wallgren-Pettersson C Iwarsson E Kingston H Garnier JM Biancalana V Oldfors A Mandel JL Laporte J 《Nature genetics》2007,39(9):1134-1139
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations in amphiphysin 2 (BIN1) in three families with autosomal recessive inheritance. Two missense mutations affecting the BAR (Bin1/amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, and a partial truncation of the C-terminal SH3 domain abrogates the interaction with DNM2 and its recruitment to the membrane tubules. Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei. 相似文献
3.
FMRP与TDG蛋白的相互作用 总被引:3,自引:0,他引:3
脆性X智力低下蛋白FMRP表达的缺乏可以导致最常见的遗传性智力低下疾病—脆性X综合征。用酵母双杂交体系筛选与FMRP相互作用的蛋白质,以期通过相互作用的蛋白质研究与FMRP相关的生化途径。从小鼠胚胎cDNA文库中得到一个与FMRP特异相互作用蛋白的cDNA(Genbank号af102857)。该cDNA编码的蛋白与人的G/T错配DNA胸腺嘧啶糖苷酶(hTDG)高度同源通过多种FMRP造反剪接异构体 相似文献
4.
Isidor B Lindenbaum P Pichon O Bézieau S Dina C Jacquemont S Martin-Coignard D Thauvin-Robinet C Le Merrer M Mandel JL David A Faivre L Cormier-Daire V Redon R Le Caignec C 《Nature genetics》2011,43(4):306-308
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner. 相似文献
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Nutritional evaluation of bacterial diets in growing rats 总被引:1,自引:0,他引:1
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J P Delaunoy G Roussel P Mandel 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1977,285(7):801-804
With obtention of specific antibodies against isoenzyme C of Rat carbonic anhydrase it was possible to realize an immunohistochemical localisation in central nervous system of Rat. Results showed that this enzyme was mainly localized in cytoplasm of oligodendroglial cells and in low concentration in myelin sheath. 相似文献
10.
J Zwiller P Mandel 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1978,286(5):423-426
The purification of guanylate cyclase has been achieved. After electrophoresis on polyacrylamide gel only one protein band was observed. The low factor of purification must therefore be ascribed to the loss of an activator of guanylate cyclase. Stimulation of the activity by nitroprusside is also lost during purification. The purified enzyme follows Michaelis--Menten kinetics, it is activated by Mn++ ions and inhibited by triphospho nucleotides. 相似文献