全文获取类型
收费全文 | 41篇 |
免费 | 0篇 |
专业分类
教育与普及 | 2篇 |
理论与方法论 | 1篇 |
现状及发展 | 15篇 |
研究方法 | 10篇 |
综合类 | 13篇 |
出版年
2016年 | 1篇 |
2013年 | 2篇 |
2012年 | 1篇 |
2011年 | 2篇 |
2010年 | 1篇 |
2009年 | 1篇 |
2008年 | 3篇 |
2007年 | 3篇 |
2006年 | 1篇 |
2003年 | 1篇 |
2002年 | 5篇 |
2001年 | 1篇 |
2000年 | 1篇 |
1996年 | 1篇 |
1989年 | 1篇 |
1987年 | 1篇 |
1980年 | 1篇 |
1979年 | 2篇 |
1978年 | 1篇 |
1973年 | 1篇 |
1972年 | 3篇 |
1970年 | 3篇 |
1969年 | 1篇 |
1968年 | 2篇 |
1967年 | 1篇 |
排序方式: 共有41条查询结果,搜索用时 437 毫秒
1.
2.
W F Bodmer C J Bailey J Bodmer H J Bussey A Ellis P Gorman F C Lucibello V A Murday S H Rider P Scambler 《Nature》1987,328(6131):614-616
Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there is a rare dominantly inherited susceptibility to colon cancer, familial adenomatous polyposis (FAP; also often previously called familial polyposis coli). During adolescence affected individuals develop from a few hundred to over a thousand adenomatous polyps in their large bowel. These are sufficiently likely to give rise to adenocarcinomas to make prophylactic removal of the colon usual in diagnosed FAP individuals. Adenomas may occur elsewhere in the gastrointestinal tract and the condition is often associated with other extracolonic lesions, such as epidermoid cysts, jaw osteomata and fibrous desmoid tumours. Adenomata have been suggested to be precancerous states for most colorectal tumours. Knudson has suggested that the mutation for a dominantly inherited cancer susceptibility may be the first step in a recessive change in the tumour cells, and that the same gene may be involved in both familial and non-familial cases of a given tumour. Following up a case report of an interstitial deletion of chromosome 5 in a mentally retarded individual with multiple developmental abnormalities and FAP, we have now shown that the FAP gene is on chromosome 5, most probably near bands 5q21-q22. 相似文献
3.
4.
Zusammenfassung Es wurde das gehäufte, geographisch begrenzte Auftreten multipler Allele für LDH-H, das bei den bisher untersuchten Organismen nur selten Varianten zeigt, nachgewiesen. Ebenso gelang die Identifizierung von elektrophoretischen Varianten in Abhängigkeit vom pH. 相似文献
5.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer 总被引:26,自引:0,他引:26
Tomlinson IP Alam NA Rowan AJ Barclay E Jaeger EE Kelsell D Leigh I Gorman P Lamlum H Rahman S Roylance RR Olpin S Bevan S Barker K Hearle N Houlston RS Kiuru M Lehtonen R Karhu A Vilkki S Laiho P Eklund C Vierimaa O Aittomäki K Hietala M Sistonen P Paetau A Salovaara R Herva R Launonen V Aaltonen LA;Multiple Leiomyoma Consortium 《Nature genetics》2002,30(4):406-410
6.
Island lizards: the genetic-phenetic variation correlation 总被引:1,自引:0,他引:1
7.
8.
Sex chromosomes of a pygopodid lizard, Lialis burtonis 总被引:2,自引:0,他引:2
9.
10.
Tomlinson IP Webb E Carvajal-Carmona L Broderick P Howarth K Pittman AM Spain S Lubbe S Walther A Sullivan K Jaeger E Fielding S Rowan A Vijayakrishnan J Domingo E Chandler I Kemp Z Qureshi M Farrington SM Tenesa A Prendergast JG Barnetson RA Penegar S Barclay E Wood W Martin L Gorman M Thomas H Peto J Bishop DT Gray R Maher ER Lucassen A Kerr D Evans DG;CORGI Consortium Schafmayer C Buch S Völzke H Hampe J Schreiber S John U Koessler T Pharoah P van Wezel T Morreau H Wijnen JT Hopper JL 《Nature genetics》2008,40(5):623-630
To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls. In phase 2, we genotyped 42,708 selected SNPs in 2,873 CRC cases and 2,871 controls. In phase 3, we evaluated 11 SNPs showing association at P < 10(-4) in a joint analysis of phases 1 and 2 in 4,287 CRC cases and 3,743 controls. Two SNPs were taken forward to phase 4 genotyping (10,731 CRC cases and 10,961 controls from eight centers). In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition. 相似文献