44 results on '"Menko, F H"'
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2. Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion
3. Absence of the Birt–Hogg–Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
4. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
5. Highly variable clinical manifestations in a large family with a novel GATA2 mutation
6. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
7. Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results
8. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
9. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
10. Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates
11. Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer
12. STK11 status and intussusception risk in Peutz-Jeghers syndrome
13. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
14. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
15. Intrachromosomal insertions: a case report and a review
16. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
17. Experience of discharge from colonoscopy of mutation negative HNPCC family members
18. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome
19. Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt–Hogg–Dubé syndrome
20. Birt-Hogg-Dube syndrome is a novel ciliopathy
21. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
22. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis (vol 110, pg 1020, 1996)
23. The gene for Hereditary Bullous dystrophy, X-linked Macular Type, maps to the Xq27.3-qter region
24. Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
25. Absence of the Birt–Hogg–Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
26. Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists
27. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
28. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer
29. Re: Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer
30. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
31. Atypical MEN Type 2B Associated with Two Germline RET Mutations on the Same Allele Not Involving Codon 918
32. Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2
33. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
34. Williams syndrome and chromosome 18.
35. Comparative genomic hybridization of microdissected familial ovarian carcinoma: two deleted regions on chromosome 15q not previously identified in sporadic ovarian carcinoma.
36. Familial breast cancer: clinical services in The Netherlands.
37. Inheritance of abnormal expression of SOS-like response in xeroderma pigmentosum and hereditary cancer-prone syndromes.
38. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
39. The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.
40. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.
41. Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer.
42. Variable age of onset in hereditary nonpolyposis colorectal cancer: clinical implications.
43. Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family.
44. Van der Woude syndrome--recognition of lesser expressions: case report.
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