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1. Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation.

2. Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer

3. Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers

4. 28 Prevalence and prognosis of lynch syndrome and sporadic mismatch repair deficiency in the combined PORTEC-1,-2 and -3 endometrial cancer trials

5. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

6. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

7. Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

8. Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.

9. Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation.

10. Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients.

11. Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

12. APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism.

13. Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.

14. Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

15. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.

16. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.

17. RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.

19. Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

20. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

21. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

22. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

23. Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.

24. Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

25. Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.

26. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

27. Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age.

28. Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

29. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

30. Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

31. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

32. Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

33. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

34. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

35. High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

36. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

37. Phenotype of SDHB mutation carriers in the Netherlands.

38. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

39. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.

40. The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.

41. Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.

42. High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.

43. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

44. Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.

45. MUTYH gene variants and breast cancer in a Dutch case–control study.

46. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

47. Infiltration of Lynch colorectal cancers by activated immune cells associates with early staging of the primary tumor and absence of lymph node metastases.

48. High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

49. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

50. Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.

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