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Page 1
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Jiao Y, et al. Among authors: uhrhammer n. Eur J Cancer. 2023 Jan;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub 2022 Nov 13. Eur J Cancer. 2023. PMID: 36509001 Free article.
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
Cavaillé M, Crampon D, Achim V, Bubien V, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Ouedraogo ZG, Jones N, Bidet Y, Sevenet N, Bignon YJ. Cavaillé M, et al. Among authors: uhrhammer n. BMC Med Genomics. 2023 Jul 13;16(1):166. doi: 10.1186/s12920-023-01600-0. BMC Med Genomics. 2023. PMID: 37442961 Free PMC article. Review.
Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Garrigues G, Batisse-Lignier M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Kelly A, Gay-Bellile M, Viala S, Bidet Y, Bignon YJ, Cavaillé M. Garrigues G, et al. Among authors: uhrhammer n. Mol Genet Genomic Med. 2023 May;11(5):e2133. doi: 10.1002/mgg3.2133. Epub 2023 Jan 14. Mol Genet Genomic Med. 2023. PMID: 36639964 Free PMC article. Review.
Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.
Gatti RA, Lange E, Rotman G, Chen X, Uhrhammer N, Liang T, Chiplunkar S, Yang L, Udar N, Dandekar S, Sheikhavandi S, Wang Z, Yang HM, Polikow J, Elashoff M, Teletar M, Sanal O, Chessa L, McConville C, Taylor M, Shiloh Y, Porras O, Borresen AL, Wegner RD, Curry C, Gerken S, Lange K, Concannon P. Gatti RA, et al. Among authors: uhrhammer n. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S57-62. Int J Radiat Biol. 1994. PMID: 7836853
117 results