299 results on '"Evans, D. G. R."'
Search Results
2. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations
3. BRCA1/2 mutation analysis in male breast cancer families from North West England
4. Familial colorectal cancer referral to regional genetics department—a single centre experience
5. Metachronous colorectal cancer risk in patients with a moderate family history
6. Risk of breast cancer in male BRCA2 carriers
7. The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis
8. Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like family
9. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
10. An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2)
11. Risk reducing mastectomy: outcomes in 10 European centres
12. A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene
13. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
14. The impact of new screening protocol on individuals at increased risk of colorectal cancer
15. Response to correspondence on “Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening”
16. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
17. Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
18. Prophylactic mastectomy in mutation carriers
19. BRCA1/2 testing: uptake and its measurement
20. Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes
21. A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?
22. Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2
23. Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms
24. Update on the Manchester Scoring System for BRCA1 and BRCA2 testing
25. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
26. Multiple meningiomas: differential involvement of the NF2 gene in children and adults
27. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
28. Molecular stool screening for colorectal cancer
29. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
30. Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families
31. High detection rate for BRCA2 mutations in male breast cancer families from North West England
32. Genotype-phenotype correlations for cataracts in neurofibromatosis 2
33. Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families
34. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
35. Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
36. Risk assessment and management of high risk familial breast cancer
37. Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future
38. Neurofibromatosis type 1 and sporadic optic gliomas
39. Malignant peripheral nerve sheath tumours in neurofibromatosis 1
40. Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas
41. Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer
42. 2157delG: a frequent mutation in BRCA2 missed by PTT
43. Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2)
44. Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2
45. Guidelines for a genetic risk based approach to advising women with a family history of breast cancer
46. Paediatric presentation of type 2 neurofibromatosis
47. Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma
48. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients
49. A clinical study of type 1 neurofibromatosis in north west England
50. Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas
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