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Year | Number of Results |
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2003 | 1 |
2010 | 1 |
2015 | 2 |
2016 | 1 |
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2024 | 0 |
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Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene.
Oncogene. 2003 Feb 13;22(6):840-6. doi: 10.1038/sj.onc.1206155.
Oncogene. 2003.
PMID: 12584563
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D.
Shlien A, et al.
Am J Hum Genet. 2010 Nov 12;87(5):631-42. doi: 10.1016/j.ajhg.2010.10.007.
Am J Hum Genet. 2010.
PMID: 21056402
Free PMC article.
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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaïti-Pellié C, Tinat J, Baert-Desurmont S, Frebourg T.
Bougeard G, et al.
J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26.
J Clin Oncol. 2015.
PMID: 26014290
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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.
Susswein LR, et al.
Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17.
Genet Med. 2016.
PMID: 26681312
Free PMC article.
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Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Zerdoumi Y, Lanos R, Raad S, Flaman JM, Bougeard G, Frebourg T, Tournier I.
Zerdoumi Y, et al.
Hum Mol Genet. 2017 Jul 15;26(14):2591-2602. doi: 10.1093/hmg/ddx106.
Hum Mol Genet. 2017.
PMID: 28369373
Free PMC article.
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