Found: 22
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Malignant salivary gland tumours in families with breast cancer susceptibility.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2021, v. 479, n. 1, p. 221, doi. 10.1007/s00428-021-03105-6
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- Publication type:
- Article
Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1306238
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- Publication type:
- Article
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1102184
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- Publication type:
- Article
Characterization of an Italian Founder Mutation in the RING-Finger Domain of <i>BRCA1</i>.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0086924
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- Publication type:
- Article
Comparative <i>In Vitro</i> and <i>In Silico</i> Analyses of Variants in Splicing Regions of <i>BRCA1</i> and <i>BRCA2</i> Genes and Characterization of Novel Pathogenic Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057173
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- Publication type:
- Article
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031038
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- Publication type:
- Article
FORMAÇÃO CONTINUADA DE PROFESSORES PARA EDUCAÇÃO INCLUSIVA: UMA EXPERIÊNCIA COM CASOS DE ENSINO.
- Published in:
- Revista Ibero-Americana de Estudos em Educação, 2020, v. 15, p. 916, doi. 10.21723/riaee.v15iesp.1.13508
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- Publication type:
- Article
BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.
- Published in:
- Cancers, 2020, v. 12, n. 12, p. 3584, doi. 10.3390/cancers12123584
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- Publication type:
- Article
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
- Published in:
- Cancers, 2019, v. 11, n. 3, p. 295, doi. 10.3390/cancers11030295
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- Publication type:
- Article
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.
- Published in:
- Cancers, 2019, v. 11, n. 2, p. 151, doi. 10.3390/cancers11020151
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- Publication type:
- Article
Le Roman de la rose. L'art d'aimer au Moyen Âge.
- Published in:
- 2013
- By:
- Publication type:
- Book Review
Mise en scène et fonctions de la forme dialoguée dans le "Dialogue sur le jeu" (1505) de François Demoulins de Rochefort, in Formes dialoguées dans la littérature exemplaire du Moyen Âge.
- Published in:
- Studi Francesi, 2013, n. 170, p. 439, doi. 10.4000/studifrancesi.3037
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- Publication type:
- Article
Aimé du Mont-Cassin, Ystoire de li Normant.
- Published in:
- 2013
- By:
- Publication type:
- Book Review
Caso de ensino: Vamos Quintanear? O encontro das crianças com o Poeta Passarinho.
- Published in:
- Roteiro, 2021, v. 46, n. 1, p. 1, doi. 10.18593/r.v46.27232
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- Publication type:
- Article
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5345, doi. 10.1093/hmg/ddv251
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- Publication type:
- Article
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666
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- Publication type:
- Article
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.820878
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- Publication type:
- Article
The <italic>BRCA2</italic> c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 729, doi. 10.1002/humu.23411
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- Publication type:
- Article
Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388
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- Publication type:
- Article
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.
- Published in:
- Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2023.1102184
- By:
- Publication type:
- Article
First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
- Published in:
- 2013
- By:
- Publication type:
- journal article