BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 38332730)

  • 1. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
    Sanoguera-Miralles L; Llinares-Burguet I; Bueno-Martínez E; Ramadane-Morchadi L; Stuani C; Valenzuela-Palomo A; García-Álvarez A; Pérez-Segura P; Buratti E; de la Hoya M; Velasco-Sampedro EA
    J Pathol; 2024 Apr; 262(4):395-409. PubMed ID: 38332730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    J Pathol; 2022 Mar; 256(3):321-334. PubMed ID: 34846068
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
    Sanoguera-Miralles L; Valenzuela-Palomo A; Bueno-Martínez E; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; García-Álvarez A; Pérez-Segura P; Infante M; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco-Sampedro EA
    Clin Chem; 2024 Jan; 70(1):319-338. PubMed ID: 37725924
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
    Bueno-Martínez E; Sanoguera-Miralles L; Valenzuela-Palomo A; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; Allen J; García-Álvarez A; Pérez-Segura P; Durán M; Easton DF; Devilee P; Vreeswijk MP; de la Hoya M; Velasco-Sampedro EA
    J Pathol; 2022 Sep; 258(1):83-101. PubMed ID: 35716007
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Minigene Splicing Assays Identify 12 Spliceogenic Variants of
    Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Caloca MJ; Gómez-Barrero S; Velasco EA
    Front Genet; 2019; 10():503. PubMed ID: 31191615
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Bueno-Martínez E; Sanoguera-Miralles L; Valenzuela-Palomo A; Lorca V; Gómez-Sanz A; Carvalho S; Allen J; Infante M; Pérez-Segura P; Lázaro C; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco EA
    Cancers (Basel); 2021 Jun; 13(11):. PubMed ID: 34200360
    [No Abstract]   [Full Text] [Related]  

  • 9. Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
    Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Acedo A; Velasco EA
    Front Genet; 2018; 9():188. PubMed ID: 29881398
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene
    Sanoguera-Miralles L; Bueno-Martínez E; Valenzuela-Palomo A; Esteban-Sánchez A; Llinares-Burguet I; Pérez-Segura P; García-Álvarez A; de la Hoya M; Velasco-Sampedro EA
    Cancers (Basel); 2022 Jun; 14(12):. PubMed ID: 35740625
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Splicing Analysis of 16
    Valenzuela-Palomo A; Sanoguera-Miralles L; Bueno-Martínez E; Esteban-Sánchez A; Llinares-Burguet I; García-Álvarez A; Pérez-Segura P; Gómez-Barrero S; de la Hoya M; Velasco-Sampedro EA
    Cancers (Basel); 2022 Sep; 14(18):. PubMed ID: 36139699
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
    Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L
    Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
    Zhang R; Lang Y; Shi X; Zhang Y; Liu X; Pan F; Qiao D; Teng X; Shao L
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2395. PubMed ID: 38400605
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Hum Mutat; 2015 Feb; 36(2):210-21. PubMed ID: 25382762
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
    Dominguez-Valentin M; Nakken S; Tubeuf H; Vodak D; Ekstrøm PO; Nissen AM; Morak M; Holinski-Feder E; Martins A; Møller P; Hovig E
    Fam Cancer; 2018 Jan; 17(1):141-153. PubMed ID: 28608266
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
    Gaildrat P; Krieger S; Di Giacomo D; Abdat J; Révillion F; Caputo S; Vaur D; Jamard E; Bohers E; Ledemeney D; Peyrat JP; Houdayer C; Rouleau E; Lidereau R; Frébourg T; Hardouin A; Tosi M; Martins A
    J Med Genet; 2012 Oct; 49(10):609-17. PubMed ID: 22962691
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the
    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
    Cancers (Basel); 2020 Dec; 12(12):. PubMed ID: 33333735
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.
    Liu X; Shi X; Xin Q; Liu Z; Pan F; Qiao D; Chen M; Zhang Y; Guo W; Li C; Zhang Y; Shao L; Zhang R
    BMC Genomics; 2023 Jul; 24(1):407. PubMed ID: 37468838
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
    Agiannitopoulos K; Papadopoulou E; Tsaousis GN; Pepe G; Kampouri S; Kocdor MA; Nasioulas G
    BMC Med Genet; 2019 Jul; 20(1):131. PubMed ID: 31349801
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
    Holm LL; Doktor TK; Hansen MB; Petersen USS; Andresen BS
    Hum Mutat; 2022 Feb; 43(2):253-265. PubMed ID: 34923709
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.