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Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E, Lemonnier N, Penkert J, Freycon C, Blanchet S, Amadou A, Chuffart F, Fischer NW, Achatz MI, Levine AJ, Goudie C, Malkin D, Bougeard G, Kratz CP, Hainaut P. Montellier E, et al. Among authors: goudie c. iScience. 2024 Nov 1;27(12):111296. doi: 10.1016/j.isci.2024.111296. eCollection 2024 Dec 20. iScience. 2024. PMID: 39634561 Free PMC article.
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
Hebert R, Cullinan N, Armstrong L, Blood KA, Brossard J, Brunga L, Cacciotti C, Caswell K, Cellot S, Coltin H, Deyell RJ, Felton K, Fernandez CV, Fleming AJ, Gibson P, Hammad R, Jabado N, Johnston DL, Lafay-Cousin L, Larouche V, Leblanc-Desrochers C, Michaeli O, Perrier R, Pike M, Say J, Schiller I, Toupin AK, Vairy S, van Engelen K, Waespe N, Villani A, Foulkes WD, Malkin D, Reichman L, Goudie C. Hebert R, et al. Among authors: goudie c. J Med Genet. 2023 Nov 27;60(12):1218-1223. doi: 10.1136/jmg-2023-109376. J Med Genet. 2023. PMID: 37460202
76 results