These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 32398771)

  • 21. 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]  

  • 22. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
    Brandão RD; van Roozendaal K; Tserpelis D; Gómez García E; Blok MJ
    Breast Cancer Res Treat; 2011 Oct; 129(3):971-82. PubMed ID: 21638052
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
    Whiley PJ; Guidugli L; Walker LC; Healey S; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Couch FJ; Spurdle AB
    Hum Mutat; 2011 Jun; 32(6):678-87. PubMed ID: 21394826
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
    Baert A; Machackova E; Coene I; Cremin C; Turner K; Portigal-Todd C; Asrat MJ; Nuk J; Mindlin A; Young S; MacMillan A; Van Maerken T; Trbusek M; McKinnon W; Wood ME; Foulkes WD; Santamariña M; de la Hoya M; Foretova L; Poppe B; Vral A; Rosseel T; De Leeneer K; Vega A; Claes KBM
    Hum Mutat; 2018 Apr; 39(4):515-526. PubMed ID: 29280214
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. RNA-based analysis of BRCA1 and BRCA2 gene alterations.
    Bonatti F; Pepe C; Tancredi M; Lombardi G; Aretini P; Sensi E; Falaschi E; Cipollini G; Bevilacqua G; Caligo MA
    Cancer Genet Cytogenet; 2006 Oct; 170(2):93-101. PubMed ID: 17011978
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.
    Claes K; Poppe B; Machackova E; Coene I; Foretova L; De Paepe A; Messiaen L
    Genes Chromosomes Cancer; 2003 Jul; 37(3):314-20. PubMed ID: 12759930
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.
    Spurdle AB; Lakhani SR; Da Silva LM; Balleine RL; ; Goldgar DE
    Hum Mutat; 2010 Feb; 31(2):E1141-5. PubMed ID: 20020529
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. A novel BRCA2 splice variant identified in a young woman.
    Nicolussi A; Belardinilli F; Ottini L; Petroni M; Capalbo C; Giannini G; Coppa A
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1513. PubMed ID: 33159495
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
    Walker LC; Whiley PJ; Couch FJ; Farrugia DJ; Healey S; Eccles DM; Lin F; Butler SA; Goff SA; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Spurdle AB
    Hum Mutat; 2010 Jun; 31(6):E1484-505. PubMed ID: 20513136
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
    Whiley PJ; Pettigrew CA; Brewster BL; Walker LC; ; Spurdle AB; Brown MA
    BMC Med Genet; 2010 May; 11():80. PubMed ID: 20507642
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
    Wappenschmidt B; Becker AA; Hauke J; Weber U; Engert S; Köhler J; Kast K; Arnold N; Rhiem K; Hahnen E; Meindl A; Schmutzler RK
    PLoS One; 2012; 7(12):e50800. PubMed ID: 23239986
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
    Di Giacomo D; Gaildrat P; Abuli A; Abdat J; Frébourg T; Tosi M; Martins A
    Hum Mutat; 2013 Nov; 34(11):1547-57. PubMed ID: 23983145
    [TBL] [Abstract][Full Text] [Related]  

  • 37. In silico prioritization and further functional characterization of SPINK1 intronic variants.
    Zou WB; Wu H; Boulling A; Cooper DN; Li ZS; Liao Z; Chen JM; Férec C
    Hum Genomics; 2017 May; 11(1):7. PubMed ID: 28472998
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Comprehensive Assessment of
    Walker LC; Lattimore VL; Kvist A; Kleiblova P; Zemankova P; de Jong L; Wiggins GAR; Hakkaart C; Cree SL; Behar R; Houdayer C; ; Parsons MT; Kennedy MA; Spurdle AB; de la Hoya M
    Front Genet; 2019; 10():1139. PubMed ID: 31803232
    [No Abstract]   [Full Text] [Related]  

  • 39. 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]  

  • 40. Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
    Machackova E; Foretova L; Lukesova M; Vasickova P; Navratilova M; Coene I; Pavlu H; Kosinova V; Kuklova J; Claes K
    BMC Cancer; 2008 May; 8():140. PubMed ID: 18489799
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.