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Journal Abstract Search

199 related items for PubMed ID: 35409408

  • 1. Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
    Bellè F, Mercatanti A, Lodovichi S, Congregati C, Guglielmi C, Tancredi M, Caligo MA, Cervelli T, Galli A.
    Int J Mol Sci; 2022 Apr 06; 23(7):. PubMed ID: 35409408
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. RAD52 influences the effect of BRCA1/2 missense variants on homologous recombination and gene reversion in Saccharomyces cerevisiae.
    Lodovichi S, Bellè F, Mercatanti A, Spugnesi L, Cozzani C, Caligo MA, Cervelli T, Galli A.
    FEMS Yeast Res; 2022 Jun 30; 22(1):. PubMed ID: 35472165
    [Abstract] [Full Text] [Related]

  • 5. 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 30; 54(11):721-731. PubMed ID: 28866612
    [Abstract] [Full Text] [Related]

  • 6. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
    Hart SN, Hoskin T, Shimelis H, Moore RM, Feng B, Thomas A, Lindor NM, Polley EC, Goldgar DE, Iversen E, Monteiro ANA, Suman VJ, Couch FJ.
    Genet Med; 2019 Jan 30; 21(1):71-80. PubMed ID: 29884841
    [Abstract] [Full Text] [Related]

  • 7. 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 30; 65(3):209-220. PubMed ID: 31907386
    [Abstract] [Full Text] [Related]

  • 8. 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 30; 22(5):825-830. PubMed ID: 31911673
    [Abstract] [Full Text] [Related]

  • 9. BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer.
    Lourenço RA, Lança M, Monteiro Gil O, Cardoso J, Lourenço T, Pereira-Leal JB, Rodrigues AS, Rueff J, Nunes Silva S.
    Mol Med Rep; 2023 Jul 30; 28(1):. PubMed ID: 37232349
    [Abstract] [Full Text] [Related]

  • 10. 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 Jul 30; 32(6):343-53. PubMed ID: 22684231
    [Abstract] [Full Text] [Related]

  • 11. Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.
    Millot GA, Berger A, Lejour V, Boulé JB, Bobo C, Cullin C, Lopes J, Stoppa-Lyonnet D, Nicolas A.
    Hum Mutat; 2011 Dec 30; 32(12):1470-80. PubMed ID: 21922593
    [Abstract] [Full Text] [Related]

  • 12. Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
    So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC, Huh J.
    Breast Cancer; 2019 Jul 30; 26(4):510-519. PubMed ID: 30725392
    [Abstract] [Full Text] [Related]

  • 13. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
    Lyra PCM, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA.
    Genet Med; 2021 Feb 30; 23(2):306-315. PubMed ID: 33087888
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. 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 30; 16(1):1-16. PubMed ID: 27495310
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 3(10):1142-55. PubMed ID: 23867111
    [Abstract] [Full Text] [Related]

  • 17. BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy.
    Khandakji M, Habish HHA, Abdulla NBS, Kusasi SAA, Abdou NMG, Al-Mulla HMMA, Al Sulaiman RJAA, Bu Jassoum SM, Mifsud B.
    Physiol Genomics; 2023 Aug 01; 55(8):315-323. PubMed ID: 37335020
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 52(4):224-30. PubMed ID: 25643705
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. BRCA1/2 missense mutations and the value of in-silico analyses.
    Sadowski CE, Kohlstedt D, Meisel C, Keller K, Becker K, Mackenroth L, Rump A, Schröck E, Wimberger P, Kast K.
    Eur J Med Genet; 2017 Nov 21; 60(11):572-577. PubMed ID: 28807866
    [Abstract] [Full Text] [Related]

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