163 results on '"Tops, Carli M"'
Search Results
2. Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
3. Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation
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. Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
7. Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome.
8. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
9. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2
10. SNP association study in PMS2-associated Lynch syndrome
11. Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age
12. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
13. Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
14. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
15. Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
16. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
17. High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations
18. Phenotype of SDHB mutation carriers in the Netherlands
19. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
20. Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
21. MUTYH gene variants and breast cancer in a Dutch case–control study
22. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer
23. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
24. Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas
25. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family
26. 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
27. MUTYH and the mismatch repair system: partners in crime?
28. Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures
29. Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
30. Insertion of an Sva Element, a Nonautonomous Retrotransposon, in PMS2 Intron 7 as a Novel Cause of Lynch Syndrome
31. A Cell-Free Assay for the Functional Analysis of Variants of the Mismatch Repair Protein MLH1
32. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
33. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis
34. APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism.
35. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis
36. Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
37. The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
38. A 4-base-pair deletion polymorphism in man
39. The phenotype of SDHB germline mutation carriers: a nationwide study.
40. Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
41. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
42. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
43. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk.
44. Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
45. Early onset MSI-H colon cancer with MLH1promoter methylation, is there a geneticpredisposition?
46. Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis.
47. Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome.
48. Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
49. Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree.
50. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
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