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| 1 | Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6 and PMS2 responsible for hereditary nonpolyposis colorectal cancer ( HNPCC ) 显示文摘 | Heleen van der Klift Juul Wijnen Anja Wagner | 2005 | Genes Chromosomes and Cancer2005,44,2: | 1 |
| 2 | One mineral density and fracture risk in type-2 diabetes mellitus:The Rotterdam study 显示文摘 | de Liefde II van der Klift M de Laet CE | 2005 | Osteoporosis Int2005,16,: | 1 |
| 3 | Bone mineral density and fracture risk in type-2diabetes mellitus:the Rotter-dam Study显示文摘 | De Liefde van der Klift M de Laet CE | 2005 | Osteoporosis International2005,16,12: | 1 |
| 4 | Bone mineral density and fracture risk in type-2 diabetes mellitus:the Rotterdam Study显示文摘 | de Liefde I I van der Klift M de Laet C E | 2005 | Osteoporos Int2005,16,12: | 1 |
| 5 | Bone Mineral Density and Fracture Risk in Type - 2 Diabetes Mellitus: the Rotterdam Study显示文摘 | De Liefde Ⅱ Van Der Klift M De Laet CE | 2005 | Osteoporos Int2005,16,12: | 1 |
| 6 | Thiazide diureticsand the risk for hip fracture显示文摘 | Schoofs MW Van Der Klift M Hofman A | 2003 | Ann Intern Med2003,139,6: | 1 |
| 7 | Endoge-nous sex hormones,sex hormone-binding globulin,and the risk of inci-dent vertebral fractures in elderly men and women:the Rotterdam Study显示文摘 | Goderie-Plomp H W van der Klift M de Ronde W | 2004 | J Clin Endocrinol Metab2004,89,7: | 1 |
| 8 | Comprehensive two-dimensional liquid chromatography with ultraviolet, evaporative light scattering and mass spectrometric detection of triacylglycerols in corn oil 显示文摘 | Van der Klift EJC Viv6-Truyols G Claassen FW | 2008 | Journal of Chromatography A2008,1178,12: | 1 |
| 9 | Bone mineral density and the risk of breast cancer: the rotterdam study显示文摘 | Van Der Klift M De Laet C Coebergh JW | 2003 | Bone2003,32,3: | 1 |
| 10 | Bone mineral density and fracture risk in type-2 diabetes mellitus: the Rotterdam显示文摘 | de Liefde van der Klift M de Laet CE | 2005 | Int2005,16,: | 1 |
| 11 | PMS2中杂合子突变可引起遗传性非息肉性大肠癌(Lynch综合征)显示文摘Background & Aims: The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different heterozygous truncating PMS2 mutations have been reported in HNPCC-suspected families. Our aim was to further assess the role of PMS2 in HNPCC. Methods: We performed Southern blot analysis in 112 patients from MLH1- , MSH2- , and MSH6- negative HNPCC-like families. A subgroup (n = 38) of these patients was analyzed by denaturing gradient gel electrophoresis (DGGE). In a second study group consisting of 775 index patients with familial colorectal cancer,we performed immunohistochemistry using antibodies against MLH1,MSH2, MSH6, and PMS2 proteins. In 8 of 775 tumors, only loss of PMS2 expression was found. In these cases, we performed Southern blot analysis and DGGE. Segregation analysis was performed in the families with a (possibly) deleterious mutation. Results: Seven novel mutations were identified: 4 genomic rearrangements and 3 truncating point mutations. Three of these 7 families fulfill the Amsterdam II criteria. The pattern of inheritance is autosomal dominant with a milder phenotype compared with families with pathogenic MLH1 or MSH2 mutations. Microsatellite instability and immunohistochemical analysis performed in HNPCC-related tumors from proven carriers showed a microsatellite instability high phenotype and loss of PMS2 protein expression in all tumors. Conclusions: We show that heterozygous truncatingmutations in PMS2 do play a role in a small subset of HNPCC-like families. PMS2 mutation analysis is indicated in patients diagnosed with a colorectal tumor with Absent staining for the PMS2 protein. | Hendriks Y.M.C. Jagmohan-Changur S. Van Der Klift H.M. 赵天智 | 2006 | 世界核心医学期刊文摘(胃肠病学分册)2006,2,8: | 1 |
| 12 | Bone min- eral density and fracture risk in type - 2 diabetes mellitus : the Rotterdam Study 显示文摘 | De Liefde II Van der Klift M de Laet CE | 2005 | Osteopoms Int2005,16,12: | 1 |
| 13 | Bone mineral density and fracture risk in type 2 diabetes melli- tus: the Rotterdam Study 显示文摘 | de Liefde I] van der Klift M de Laet CE | 2005 | Osteoprosis Int2005,16,: | 1 |
| 14 | Use of statins and fracture:results of 4 prospective studies and cumulative meta-analysis of observational studies and controlled trials显示文摘 | Bauer DC Mundy GR Jamal SA Black DM Cauley JA Ensrud KE van der Klift M Pols HA | | 0,,2: | 1 |
| 15 | Osteoarthritis of the knee is associated with vertebral and nonvertebral fractures in the elderly: the Rotterdam study显示文摘 | Bergink AP van der Klift M Hofman A | 2003 | Arthritis Rheum2003,49,: | 1 |
| 16 | Bone mineral density and the risk of peripheral arterial disease:the Rotterdam Study 显示文摘 | van der Klift M Pols HA Hak AE | 2002 | Calcif Tissue Int2002,70,6: | 1 |
| 17 | Bone mineral density and fracture risk in type-2 diabetes mellitus: the Rotter- dam Study显示文摘 | de Liefde II van der Klift M de Laet CE | 2005 | Osteoporos Int2005,16,12: | 1 |
| 18 | Osteoporosis in men and women:a story about bone mineral density thresholds and hip fracture risk显示文摘 | de Laet CE van der Klift M Hofman A | 2002 | JBone Miner Res2002,17,: | 1 |
| 19 | Bone mineral density andfracture risk in type 2 diabetes mellitus:the Rotterdam Study显示文摘 | de LiefdeⅡ van der Klift M de Laet CE | 2005 | Osteo-prosis Int2005,16,12: | 1 |
| 20 | Fracture inci- dence and association with bone mineral density in elderly men and women: the Rotterdam Study显示文摘 | Schuit SC van der Klift M Weel AE | 2004 | Bone2004,34,1: | 1 |