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

Year Number of Results
2002 5
2003 3
2004 4
2005 4
2006 4
2007 4
2008 3
2009 4
2010 3
2011 5
2012 7
2013 12
2014 8
2015 11
2016 13
2017 13
2018 7
2019 7
2020 12
2021 10
2022 12
2023 6
2024 4

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146 results

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Page 1
Functional characterization of 84 PALB2 variants of uncertain significance.
Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ. Wiltshire T, et al. Among authors: carvalho ma. Genet Med. 2020 Mar;22(3):622-632. doi: 10.1038/s41436-019-0682-z. Epub 2019 Oct 21. Genet Med. 2020. PMID: 31636395 Free PMC article.
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Lyra PCM Jr, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS Jr, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA. Lyra PCM Jr, et al. Among authors: carvalho ma. Genet Med. 2021 Feb;23(2):306-315. doi: 10.1038/s41436-020-00991-0. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087888 Free PMC article.
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. Fernandes VC, et al. Among authors: carvalho ma. J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14. J Biol Chem. 2019. PMID: 30765603 Free PMC article.
PALB2 Variants: Protein Domains and Cancer Susceptibility.
Nepomuceno TC, Carvalho MA, Rodrigue A, Simard J, Masson JY, Monteiro ANA. Nepomuceno TC, et al. Among authors: carvalho ma. Trends Cancer. 2021 Mar;7(3):188-197. doi: 10.1016/j.trecan.2020.10.002. Epub 2020 Nov 1. Trends Cancer. 2021. PMID: 33139182 Review.
Functional assays for BRCA1 and BRCA2.
Carvalho MA, Couch FJ, Monteiro AN. Carvalho MA, et al. Int J Biochem Cell Biol. 2007;39(2):298-310. doi: 10.1016/j.biocel.2006.08.002. Epub 2006 Aug 18. Int J Biochem Cell Biol. 2007. PMID: 16978908 Free PMC article. Review.
The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.
Nepomuceno TC, De Gregoriis G, de Oliveira FMB, Suarez-Kurtz G, Monteiro AN, Carvalho MA. Nepomuceno TC, et al. Among authors: carvalho ma. Int J Mol Sci. 2017 Aug 31;18(9):1886. doi: 10.3390/ijms18091886. Int J Mol Sci. 2017. PMID: 28858227 Free PMC article. Review.
A guide for functional analysis of BRCA1 variants of uncertain significance.
Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group. Millot GA, et al. Among authors: carvalho ma. Hum Mutat. 2012 Nov;33(11):1526-37. doi: 10.1002/humu.22150. Epub 2012 Jul 16. Hum Mutat. 2012. PMID: 22753008 Free PMC article. Review.
CAR-T Cells Microscopic and Phenotypic Identification in the Peripheral Blood.
Lesesve JF, Cravat M, Boulangé L, Rubio MT, De Carvalho M. Lesesve JF, et al. Among authors: de carvalho m. Mediterr J Hematol Infect Dis. 2022 Mar 1;14(1):e2022024. doi: 10.4084/MJHID.2022.024. eCollection 2022. Mediterr J Hematol Infect Dis. 2022. PMID: 35444766 Free PMC article. No abstract available.
146 results