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Journal Abstract Search

215 related items for PubMed ID: 36833189

  • 1. Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
    Hovland HN, Mchaina EK, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
    Genes (Basel); 2023 Jan 19; 14(2):. PubMed ID: 36833189
    [Abstract] [Full Text] [Related]

  • 2. Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
    Bassi N, Hovland HN, Rasheed K, Jarhelle E, Pedersen N, Mchaina EK, Bakkan SME, Iversen N, Høberg-Vetti H, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E, Van Ghelue M.
    BMC Cancer; 2023 Apr 21; 23(1):368. PubMed ID: 37085799
    [Abstract] [Full Text] [Related]

  • 3. Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
    Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N.
    Hum Genomics; 2018 Nov 20; 12(1):51. PubMed ID: 30458859
    [Abstract] [Full Text] [Related]

  • 4. BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
    Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.
    Dis Markers; 2012 Nov 20; 32(6):343-53. PubMed ID: 22684231
    [Abstract] [Full Text] [Related]

  • 5. A high-throughput functional complementation assay for classification of BRCA1 missense variants.
    Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.
    Cancer Discov; 2013 Oct 20; 3(10):1142-55. PubMed ID: 23867111
    [Abstract] [Full Text] [Related]

  • 6. Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
    Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA.
    J Biol Chem; 2019 Apr 12; 294(15):5980-5992. PubMed ID: 30765603
    [Abstract] [Full Text] [Related]

  • 7. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    Am J Hum Genet; 2022 Jun 02; 109(6):1153-1174. PubMed ID: 35659930
    [Abstract] [Full Text] [Related]

  • 8. Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
    Jarhelle E, Riise Stensland HM, Mæhle L, Van Ghelue M.
    Fam Cancer; 2017 Jan 02; 16(1):1-16. PubMed ID: 27495310
    [Abstract] [Full Text] [Related]

  • 9. Functional analysis of clinical BARD1 germline variants.
    Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    Cold Spring Harb Mol Case Stud; 2019 Aug 02; 5(4):. PubMed ID: 31371347
    [Abstract] [Full Text] [Related]

  • 10. Effect of BRCA1 missense variants on gene reversion in DNA double-strand break repair mutants and cell cycle-arrested cells of Saccharomyces cerevisiae.
    Lodovichi S, Bellè F, Cervelli T, Lorenzoni A, Maresca L, Cozzani C, Caligo MA, Galli A.
    Mutagenesis; 2020 Mar 27; 35(2):189-195. PubMed ID: 31769492
    [Abstract] [Full Text] [Related]

  • 11. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
    Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.
    Genet Med; 2020 May 27; 22(5):825-830. PubMed ID: 31911673
    [Abstract] [Full Text] [Related]

  • 12. Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM, UNICANCER Genetic Group BRCA network.
    Mol Cancer Res; 2019 Jan 27; 17(1):54-69. PubMed ID: 30257991
    [Abstract] [Full Text] [Related]

  • 13. BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
    Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium.
    J Med Genet; 2015 Apr 27; 52(4):224-30. PubMed ID: 25643705
    [Abstract] [Full Text] [Related]

  • 14. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
    Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, Brøndum-Nielsen K, Gerdes AM, Møller P, Kristoffersson U, Olsson H, Borg A, Monteiro AN.
    Hum Mol Genet; 2001 Feb 15; 10(4):353-60. PubMed ID: 11157798
    [Abstract] [Full Text] [Related]

  • 15. Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
    Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA, Dutch-Belgian VUS workgroup, Vreeswijk MPG, Jonkers J.
    Clin Cancer Res; 2020 Sep 01; 26(17):4559-4568. PubMed ID: 32546644
    [Abstract] [Full Text] [Related]

  • 16. DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment.
    Toland AE, Andreassen PR.
    J Med Genet; 2017 Nov 01; 54(11):721-731. PubMed ID: 28866612
    [Abstract] [Full Text] [Related]

  • 17. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
    Ahlborn LB, Dandanell M, Steffensen AY, Jønson L, Nielsen FC, Hansen TV.
    Breast Cancer Res Treat; 2015 Apr 01; 150(2):289-98. PubMed ID: 25724305
    [Abstract] [Full Text] [Related]

  • 18. Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer.
    Kim HK, Lee EJ, Lee YJ, Kim J, Kim Y, Kim K, Lee SW, Chang S, Lee YJ, Lee JW, Lee W, Chun S, Son BH, Jung KH, Kim YM, Min WK, Ahn SH.
    J Hum Genet; 2020 Mar 01; 65(3):209-220. PubMed ID: 31907386
    [Abstract] [Full Text] [Related]

  • 19. The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays.
    Adamovich AI, Diabate M, Banerjee T, Nagy G, Smith N, Duncan K, Mendoza Mendoza E, Prida G, Freitas MA, Starita LM, Parvin JD.
    Am J Hum Genet; 2022 Apr 07; 109(4):618-630. PubMed ID: 35196514
    [Abstract] [Full Text] [Related]

  • 20. Inter-BRCT linker is probably the most intolerant region of the BRCA1 BRCT domain.
    Yadegari F, Farahmand L, Esmaeili R, Zarinfam S, Majidzadeh-A K.
    J Biomol Struct Dyn; 2024 Jul 07; 42(11):5734-5746. PubMed ID: 37948190
    [Abstract] [Full Text] [Related]

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