Found: 21
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Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
- Published in:
- Hereditary Cancer in Clinical Practice, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s13053-022-00237-x
- By:
- Publication type:
- Article
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 5, p. 483, doi. 10.1111/j.1399-0004.2010.01333.x
- By:
- Publication type:
- Article
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.
- Published in:
- Psycho-Oncology, 2011, v. 20, n. 6, p. 631, doi. 10.1002/pon.1951
- By:
- Publication type:
- Article
Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens.
- Published in:
- Breast Cancer Research & Treatment, 2016, v. 155, n. 3, p. 597, doi. 10.1007/s10549-016-3697-z
- By:
- Publication type:
- Article
A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 130, n. 2, p. 425, doi. 10.1007/s10549-011-1357-x
- By:
- Publication type:
- Article
Validating measures of free-living physical activity in overweight and obese subjects using an accelerometer.
- Published in:
- International Journal of Obesity, 2014, v. 38, n. 7, p. 1011, doi. 10.1038/ijo.2013.195
- By:
- Publication type:
- Article
Sleep duration and body-weight development during puberty in a Dutch children cohort.
- Published in:
- International Journal of Obesity, 2010, v. 34, n. 10, p. 1508, doi. 10.1038/ijo.2010.161
- By:
- Publication type:
- Article
Genetic structure inOrchesella cincta(Collembola): strong subdivision of European populations inferred from mtDNA and AFLP markers.
- Published in:
- Molecular Ecology, 2005, v. 14, n. 7, p. 2017, doi. 10.1111/j.1365-294X.2005.02548.x
- By:
- Publication type:
- Article
Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial.
- Published in:
- British Journal of Cancer, 2014, v. 110, n. 4, p. 1081, doi. 10.1038/bjc.2013.805
- By:
- Publication type:
- Article
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 173, doi. 10.1007/s10689-016-9942-0
- By:
- Publication type:
- Article
Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.
- Published in:
- Familial Cancer, 2016, v. 15, n. 4, p. 563, doi. 10.1007/s10689-016-9877-5
- By:
- Publication type:
- Article
Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study.
- Published in:
- Familial Cancer, 2015, v. 14, n. 3, p. 355, doi. 10.1007/s10689-015-9788-x
- By:
- Publication type:
- Article
Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits.
- Published in:
- Familial Cancer, 2010, v. 9, n. 4, p. 647, doi. 10.1007/s10689-010-9368-z
- By:
- Publication type:
- Article
BRCA testing of breast cancer patients: medical specialists' referral patterns, knowledge and attitudes to genetic testing.
- Published in:
- European Journal of Cancer Care, 2010, v. 19, n. 3, p. 369, doi. 10.1111/j.1365-2354.2008.01065.x
- By:
- Publication type:
- Article
A multiplex PCR predictor for aCGH success of FFPE samples.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU14>3.0.CO;2-Y
- By:
- Publication type:
- Article
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
- Published in:
- Human Mutation, 1998, v. 11, p. S85, doi. 10.1002/humu.1380110129
- By:
- Publication type:
- Article
Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2015, v. 107, n. 5, p. 1, doi. 10.1093/jnci/djv033
- By:
- Publication type:
- Article
Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article