Found: 18
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Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 864, doi. 10.1038/ejhg.2012.270
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- Publication type:
- Article
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11872, doi. 10.3390/ijms241411872
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- Publication type:
- Article
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 150, doi. 10.3390/genes12020150
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- Publication type:
- Article
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 172, n. 2, p. 497, doi. 10.1007/s10549-018-4903-y
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- Publication type:
- Article
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
- Published in:
- Breast Cancer Research & Treatment, 2016, v. 155, n. 2, p. 253, doi. 10.1007/s10549-015-3676-9
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- Publication type:
- Article
Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061302
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- Publication type:
- Article
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b<sup>o,+</sup>AT) of rBAT.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 52
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- Publication type:
- Article
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
- Published in:
- Carcinogenesis, 2013, v. 34, n. 11, p. 2505, doi. 10.1093/carcin/bgt272
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- Publication type:
- Article
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
- Published in:
- Cancers, 2020, v. 12, n. 4, p. 829, doi. 10.3390/cancers12040829
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- Publication type:
- Article
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
- Published in:
- Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 979, doi. 10.1007/s10549-011-1661-5
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- Publication type:
- Article
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
- Published in:
- 2011
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- Publication type:
- Report
Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 122, n. 3, p. 733, doi. 10.1007/s10549-009-0613-9
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- Publication type:
- Article
ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 271, doi. 10.1002/humu.22484
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- Publication type:
- Article
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02465-y
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- Publication type:
- Article
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2097, doi. 10.1093/hmg/ddg228
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- Publication type:
- Article
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
- Published in:
- International Journal of Cancer, 2019, v. 145, n. 10, p. 2682, doi. 10.1002/ijc.32304
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- Publication type:
- Article
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
- Published in:
- International Journal of Cancer, 2017, v. 141, n. 7, p. 1365, doi. 10.1002/ijc.30820
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- Publication type:
- Article