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Year Number of Results
2002 3
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2009 1
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Page 1
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: carvalho ma. HGG Adv. 2024 Apr 25;5(3):100296. doi: 10.1016/j.xhgg.2024.100296. Online ahead of print. HGG Adv. 2024. PMID: 38669137 Free PMC article. No abstract available.
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: carvalho ma. HGG Adv. 2023 Oct 12;4(4):100240. doi: 10.1016/j.xhgg.2023.100240. Epub 2023 Sep 16. HGG Adv. 2023. PMID: 37718511 Free PMC article.
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR. Xia B, et al. Among authors: carvalho ma. Hum Mutat. 2022 Oct;43(10):1396-1407. doi: 10.1002/humu.24427. Epub 2022 Jul 12. Hum Mutat. 2022. PMID: 35762214 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.
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.
49 results