Found: 22
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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
Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 318, doi. 10.1210/clinem/dgaa833
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- Publication type:
- Article
The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4629, doi. 10.3390/ijms22094629
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- Publication type:
- Article
Regulation of T-cell Receptor Gene Expression by Three-Dimensional Locus Conformation and Enhancer Function.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8478, doi. 10.3390/ijms21228478
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- Publication type:
- Article
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
- Published in:
- Bioinformatics, 2021, v. 37, n. 22, p. 4227, doi. 10.1093/bioinformatics/btab356
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- Publication type:
- Article
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
- Published in:
- Scientific Reports, 2017, p. 39348, doi. 10.1038/srep39348
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- Publication type:
- Article
Puerto Rico como cuerpo adicto. Un acercamiento desde la micropolítica a El peor de mis amigos de Rafael Franco Steeves.
- Published in:
- 2019
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- Publication type:
- Book Review
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
- Published in:
- Cancers, 2020, v. 12, n. 7, p. 1799, doi. 10.3390/cancers12071799
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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
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
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
Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation.
- Published in:
- Cancer Medicine, 2024, v. 13, n. 7, p. 1, doi. 10.1002/cam4.7041
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- Publication type:
- Article
Immunogenicity and evolutionary variability of epitopes within lgA1 protease from serogroup A Neisseria meningitidis.
- Published in:
- Molecular Microbiology, 1994, v. 11, n. 1, p. 175, doi. 10.1111/j.1365-2958.1994.tb00299.x
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- Publication type:
- Article
Hilvanando la diáspora caribeña en Madrid: La labor de YoSoyElOtro.
- Published in:
- Relaciones Internacionales (1699-3950), 2014, n. 25, p. 201
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- Publication type:
- Article
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.719115
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- Publication type:
- Article
Primary constitutional MLH1 epimutations: a focal epigenetic event.
- Published in:
- 2018
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- Publication type:
- journal 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
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0762-6
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- Publication type:
- Article
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 501, doi. 10.1007/s10689-017-9981-1
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- Publication type:
- Article
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 12, p. 6964, doi. 10.1093/nar/gkad1222
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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
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