382 results on '"Nielsen, Maartje"'
Search Results
2. Germline NPAT inactivating variants as cause of hereditary colorectal cancer
3. Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
4. Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
5. Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
6. Emerge of colorectal cancer in Lynch syndrome despite colonoscopy surveillance: A challenge of hide and seek
7. Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation
8. MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome
9. Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
10. Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers
11. Figure 1 from PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
12. Supplementary Table S3 from PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
13. Supplementary Figure S5 from PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
14. Data from PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
15. Figure 3 from PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
16. Figure 2 from PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
17. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas
18. Molecular functions of MCM8 and MCM9 and their associated pathologies
19. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
20. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
21. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
22. Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome
23. PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis
24. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
25. Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas
26. Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
27. The coding microsatellite mutation profile of PMS2-deficient colorectal cancer
28. MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome
29. The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations
30. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
31. Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair–Deficient Lynch-Like Tumors
32. Saturation genome editing of BAP1functionally classifies somatic and germline variants
33. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
34. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
35. MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
36. Relation between WHO Classification and Location- and Functionality-Based Classifications of Neuroendocrine Neoplasms of the Digestive Tract
37. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
38. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
39. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
40. Adenomatous Polyposis Syndromes: MUTYH-Associated Polyposis
41. Familial Adenomatous Polyposis or APC-Associated Polyposis
42. Adenomatous Polyposis Syndromes: NTHL1-Associated Polyposis / Tumor Syndrome
43. Adenomatous Polyposis Syndromes: Germline Biallelic Inactivation of Mismatch Repair Genes
44. Adenomatous Polyposis Syndromes: Unexplained Colorectal Adenomatous Polyposis
45. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2
46. Relation between WHO Classification and Location- and Functionality-Based Classifications of Neuroendocrine Neoplasms of the Digestive Tract.
47. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas
48. SNP association study in PMS2-associated Lynch syndrome
49. The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution
50. Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
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