Found: 13
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Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2.
- Published in:
- Epigenomes, 2022, v. 6, n. 4, p. 32, doi. 10.3390/epigenomes6040032
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- Publication type:
- Article
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC.
- Published in:
- 2022
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- Publication type:
- journal article
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 554, doi. 10.1111/cge.14410
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- Publication type:
- Article
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.
- Published in:
- Familial Cancer, 2022, v. 21, n. 3, p. 319, doi. 10.1007/s10689-021-00274-w
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- Publication type:
- Article
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.
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- Familial Cancer, 2017, v. 16, n. 2, p. 167, doi. 10.1007/s10689-016-9940-2
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- Publication type:
- Article
Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter Program.
- Published in:
- Oncologist, 2024, v. 29, n. 8, p. e967, doi. 10.1093/oncolo/oyae057
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- Publication type:
- Article
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 163, doi. 10.1186/s13023-014-0163-z
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- Publication type:
- Article
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
- Published in:
- 2014
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- Publication type:
- Journal Article
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 347, doi. 10.1002/humu.21193
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- Publication type:
- Article
Non- USH2A mutations in USH2 patients.
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- Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004
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- Publication type:
- Article
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634
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- Publication type:
- Article
Pregnancy and von Hippel-Lindau disease.
- Published in:
- Journal of Neurosurgery, 2013, v. 118, n. 6, p. 1380, doi. 10.3171/2012.11.JNS122145
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- Publication type:
- Article
Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.913
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- Publication type:
- Article