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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 3
2011 2
2012 2
2013 3
2014 2
2015 1
2017 2
2018 4
2019 5
2020 5
2021 2
2022 2
2024 0

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28 results

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Page 1
Editorial: RNA Splicing and Backsplicing: Disease and Therapy.
Asselta R, Duga S, Velasco EA, Buratti E. Asselta R, et al. Front Genet. 2020 Dec 8;11:626835. doi: 10.3389/fgene.2020.626835. eCollection 2020. Front Genet. 2020. PMID: 33363577 Free PMC article. No abstract available.
Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1.
Casado-Medrano V, Barrio-Real L, Gutiérrez-Miranda L, González-Sarmiento R, Velasco EA, Kazanietz MG, Caloca MJ. Casado-Medrano V, et al. Among authors: velasco ea. J Biol Chem. 2020 Jan 31;295(5):1300-1314. doi: 10.1074/jbc.RA119.008688. Epub 2019 Dec 22. J Biol Chem. 2020. PMID: 31871052 Free PMC article.
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.
Zhu L, Miao B, Dymerska D, Kuswik M, Bueno-Martínez E, Sanoguera-Miralles L, Velasco EA, Paramasivam N, Schlesner M, Kumar A, Yuan Y, Lubinski J, Bandapalli OR, Hemminki K, Försti A. Zhu L, et al. Among authors: velasco ea. Cancers (Basel). 2022 Jan 28;14(3):670. doi: 10.3390/cancers14030670. Cancers (Basel). 2022. PMID: 35158942 Free PMC article.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A; kConFab Investigators; Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M. Lopez-Perolio I, et al. Among authors: velasco ea. J Med Genet. 2019 Jul;56(7):453-460. doi: 10.1136/jmedgenet-2018-105834. Epub 2019 Mar 19. J Med Genet. 2019. PMID: 30890586 Free PMC article.
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Villate O, Ibarluzea N, Fraile-Bethencourt E, Valenzuela A, Velasco EA, Grozeva D, Raymond FL, Botella MP, Tejada MI. Villate O, et al. Among authors: velasco ea. Front Genet. 2018 Jan 26;9:7. doi: 10.3389/fgene.2018.00007. eCollection 2018. Front Genet. 2018. PMID: 29434620 Free PMC article.
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA. Valenzuela-Palomo A, et al. Among authors: velasco ea. J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28. J Pathol. 2022. PMID: 34846068 Free PMC article.
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: velasco ea. Cancers (Basel). 2020 Dec 15;12(12):3771. doi: 10.3390/cancers12123771. Cancers (Basel). 2020. PMID: 33333735 Free PMC article.
28 results