241 results on '"Tops, Carli M"'
Search Results
2. Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation
3. Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
4. Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers
5. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas
6. Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
7. Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome
8. Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
9. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
10. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2
11. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas
12. SNP association study in PMS2-associated Lynch syndrome
13. Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age
14. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
15. Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
16. APCmosaicism, not always isolated: two first-degree relatives with apparently distinctAPCmosaicism
17. 2022-RA-809-ESGO Underlying causes and prognosis of mismatch repair deficiency in endometrial cancer other thanMLH1promoter hypermethylation
18. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
19. Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
20. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
21. High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations
22. Phenotype of SDHB mutation carriers in the Netherlands
23. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
24. Linkage Studies on Familial Adenomatous Polyposis in the Netherlands
25. Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
26. Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer
27. Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
28. MUTYH gene variants and breast cancer in a Dutch case–control study
29. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer
30. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
31. Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas
32. Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers
33. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family
34. Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts
35. MUTYH and the mismatch repair system: partners in crime?
36. Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures
37. Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
38. Insertion of an Sva Element, a Nonautonomous Retrotransposon, in PMS2 Intron 7 as a Novel Cause of Lynch Syndrome
39. The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material
40. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
41. A Cell-Free Assay for the Functional Analysis of Variants of the Mismatch Repair Protein MLH1
42. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
43. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis
44. APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism.
45. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis
46. Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1Promoter Hypermethylation
47. Constitutional mismatch repair deficiency in a healthy child : On the spot diagnosis?
48. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
49. Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps
50. The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
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