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Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
Front Genet. 2018 May 24;9:188. doi: 10.3389/fgene.2018.00188. eCollection 2018.
Front Genet. 2018.
PMID: 29881398
Free PMC article.
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
Acedo A, Hernández-Moro C, Curiel-García Á, Díez-Gómez B, Velasco EA.
Acedo A, et al. Among authors: diez gomez b.
Hum Mutat. 2015 Feb;36(2):210-21. doi: 10.1002/humu.22725.
Hum Mutat. 2015.
PMID: 25382762
Free PMC article.
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Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.
Fraile-Bethencourt E, et al. Among authors: diez gomez b.
PLoS Genet. 2017 Mar 24;13(3):e1006691. doi: 10.1371/journal.pgen.1006691. eCollection 2017 Mar.
PLoS Genet. 2017.
PMID: 28339459
Free PMC article.
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Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA.
Fraile-Bethencourt E, et al. Among authors: diez gomez b.
J Pathol. 2019 Aug;248(4):409-420. doi: 10.1002/path.5268. Epub 2019 Apr 23.
J Pathol. 2019.
PMID: 30883759
Free article.
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Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Caloca MJ, Gómez-Barrero S, Velasco EA.
Fraile-Bethencourt E, et al. Among authors: diez gomez b.
Front Genet. 2019 May 28;10:503. doi: 10.3389/fgene.2019.00503. eCollection 2019.
Front Genet. 2019.
PMID: 31191615
Free PMC article.
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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Infante M, Durán M, Marcos G, Lastra E, Gómez-Barrero S, Velasco EA.
Fraile-Bethencourt E, et al. Among authors: diez gomez b.
Breast Cancer Res Treat. 2018 Aug;171(1):53-63. doi: 10.1007/s10549-018-4826-7. Epub 2018 May 15.
Breast Cancer Res Treat. 2018.
PMID: 29766361
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Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Llovet P, Díez-Gómez B, Caloca MJ, Pérez-Segura P, Fraile-Bethencourt E, Colmena M, Carvalho S, Allen J, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA.
Sanoguera-Miralles L, et al. Among authors: diez gomez b.
Cancers (Basel). 2020 Dec 15;12(12):3771. doi: 10.3390/cancers12123771.
Cancers (Basel). 2020.
PMID: 33333735
Free PMC article.
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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA.
Infante M, et al. Among authors: diez gomez b.
Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8.
Carcinogenesis. 2013.
PMID: 23929434
Free article.
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