Mostrando resultados 10 a 23 de 23
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 2018 | Identification of eight spliceogenic variants in BRCA2 exon 16 by minigene assays | Fraile-Bethencourt, Eugenia CSIC ORCID; Valenzuela-Palomo, Alberto CSIC; Díez-Gómez, Beatriz CSIC; Acedo, Alberto CSIC ORCID; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2019 | Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15 | Fraile-Bethencourt, Eugenia CSIC ORCID; Valenzuela-Palomo, Alberto CSIC; Díez-Gómez, Beatriz CSIC; Caloca, María J. CSIC ORCID CVN; Gómez-Barrero, Susana; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2022 | Minigene splicing assays identify 20 spliceogenic variants of the breast/Ovarian cancer susceptibility gene RAD51C | Sanoguera-Miralles, Lara CSIC ORCID CVN; Bueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Esteban-Sánchez, Ada; Llinares-Burguet, Inés CSIC ORCID CVN; Pérez-Segura, Pedro; García-Álvarez, Alicia CSIC; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | sep-2022 | Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants | Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Esteban-Sánchez, Ada; Lorca, Víctor; Llinares-Burguet, Inés CSIC ORCID CVN; Allen, Jamie; García-Álvarez, Alicia CSIC; Pérez-Segura, Pedro; Durán, Mercedes CSIC ORCID; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2019 | Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays | Fraile-Bethencourt, Eugenia CSIC ORCID; Valenzuela-Palomo, Alberto CSIC; Díez-Gómez, Beatriz CSIC; Goina, Elisa; Acedo, Alberto CSIC ORCID; Buratti, Emanuele; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2021 | RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants | Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Lorca, Víctor; Gómez-Sanz, Alicia; Carvalho, Sara; Allen, Jamie; Infante, Mar CSIC ORCID; Pérez-Segura, Pedro; Lázaro, Conxi; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2016 | Señalización en microglía activada | Valenzuela-Palomo, Alberto CSIC | tesis de maestría |
| openAccess |  | 2022 | Splicing analysis of 16 PALB2 clinVar variants by minigene assays: identification of six likely pathogenic variants | Valenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Bueno-Martínez, Elena CSIC ORCID CVN; Esteban-Sánchez, Ada; Llinares-Burguet, Inés CSIC ORCID CVN; García-Álvarez, Alicia CSIC; Pérez-Segura, Pedro; Gómez-Barrero, Susana; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess | | 30-mar-2022 | Splicing Functional Assays of ATM splice-site variants identified in the BRIDGES project | Bueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID | dataset |
| openAccess | | 15-mar-2023 | Splicing Functional Assays of CHEK2 splice-site variants identified in the BRIDGES project | Sanoguera-Miralles, Lara CSIC ORCID CVN; Bueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID | dataset |
| openAccess | | 12-sep-2022 | Splicing Functional Assays of PALB2 splice-site variants reported at the ClinVar database | Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID | dataset |
| openAccess | | 24-jun-2021 | Splicing Functional Assays of splice-site variants of the breast cancer gene PALB2 identified in the BRIDGES project | Valenzuela-Palomo, Alberto CSIC; Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID | dataset |
| openAccess |  | mar-2022 | Splicing predictions, minigene analyses and ACMG/AMP clinical classification of 42 germline PALB2 splice-site variants | Valenzuela-Palomo, Alberto CSIC; Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Lorca, Víctor; Fraile-Bethencourt, Eugenia CSIC ORCID; Esteban-Sánchez, Ada; Gómez-Barrero, Susana; Carvalho, Sara; Allen, Jamie; García-Álvarez, Alicia CSIC; Pérez-Segura, Pedro; Dorling, Leila; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2020 | UGT1A1 variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar patient induce aberrant splicing in minigene assays | Gailite, Linda; Valenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Rots, Dmitrijs; Kreile, Madara; Velasco, Eladio CSIC ORCID | artículo |
