214 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. Familial and Hereditary Non-polyposis Colorectal Cancer: Issues Relevant for Surgical Practice
4. Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion
5. Genetic Counseling for Hereditary Cancer: A Pilot Study on Experiences of Patients and Family Members.
6. Screening for Hereditary Non-polyposis Colorectal Cancer in the Netherlands
7. Absence of the Birt–Hogg–Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
8. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
9. Highly variable clinical manifestations in a large family with a novel GATA2 mutation
10. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
11. Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results
12. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
13. Molecular profile of ductal carcinoma in situ of the breast in BRCA1 and BRCA2 germline mutation carriers
14. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
15. Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates
16. Is surveillance of the small bowel indicated for Lynch syndrome families?
17. Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer
18. STK11 status and intussusception risk in Peutz-Jeghers syndrome
19. Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data
20. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications
21. STRAD in Peutz-Jeghers syndrome and sporadic cancers
22. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
23. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
24. Intrachromosomal insertions: a case report and a review
25. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
26. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect
27. Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition
28. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds
29. Experience of discharge from colonoscopy of mutation negative HNPCC family members
30. MSH2 Mutation Carriers Are at Higher Risk of Cancer Than MLH1 Mutation Carriers: A Study of Hereditary Nonpolyposis Colorectal Cancer Families
31. Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations
32. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome
33. Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt–Hogg–Dubé syndrome
34. Birt-Hogg-Dube syndrome is a novel ciliopathy
35. Familial multiple discoid fibroma:A lookalike of Birt-Hogg-Dube syndrome not linked to the FLCN locus
36. Poliepen
37. Aanbevelingen voor het beleid bij vrouwen met een erfelijk bepaalde hoge kans op gynaecologische kanker
38. Survival analysis in familial ovarian cancer, a case control study
39. Jan Peutz, Harold Jeghers and a remarkable combination of polyposis and pigmentation of the skin and mucous membranes
40. Een patiënt met het Peutz-Jeghers-syndroom en levermetastasen van een onbekende primaire tumor
41. Clinical and genetic evaluation of thirty ovarian cancer families
42. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
43. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis (vol 110, pg 1020, 1996)
44. De kans op mammacarcinoom en samenhangende carcinomen bij een positieve familieanamnese. Landelijke Werkgroep Erfelijk Mammacarcinoom van de Stichting Opsporing Erfelijke Tumoren
45. The gene for Hereditary Bullous dystrophy, X-linked Macular Type, maps to the Xq27.3-qter region
46. Klonering van het eerste gen voor borst-/ovariumkanker (BRCA1), kartering van een tweede genlocus (BRCA2) en consequenties voor de klinische praktijk
47. Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
48. Absence of the Birt–Hogg–Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
49. Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists
50. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
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