35 results on '"Menko, F H"'
Search Results
2. Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
3. Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion
4. Genetic Counseling for Hereditary Cancer: A Pilot Study on Experiences of Patients and Family Members.
5. Absence of the Birt–Hogg–Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
6. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
7. Highly variable clinical manifestations in a large family with a novel GATA2 mutation
8. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
9. Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results
10. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
11. Molecular profile of ductal carcinoma in situ of the breast in BRCA1 and BRCA2 germline mutation carriers
12. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
13. Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates
14. Is surveillance of the small bowel indicated for Lynch syndrome families?
15. Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer
16. STK11 status and intussusception risk in Peutz-Jeghers syndrome
17. Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data
18. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications
19. STRAD in Peutz-Jeghers syndrome and sporadic cancers
20. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
21. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
22. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect
23. Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition
24. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds
25. Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations
26. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome.
27. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
28. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
29. Histopathologic Features of Genetically Determined Ovarian Cancer.
30. Clinical and genetic evaluation of thirty ovarian cancer families.
31. A giant congenital orbital tumor: An unusual presentation of retinoblastoma.
32. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC).
33. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications.
34. Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols.
35. Williams syndrome and chromosome 18.
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