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Page 1
Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Louis J, Rolain M, Levacher C, Baudry K, Pujol P, Ruminy P, Baert Desurmont S, Bou J, Bouvignies E, Coutant S, Kasper E, Lienard G, Vasseur S, Vezain M, Houdayer C, Charbonnier F, Bougeard G. Louis J, et al. Among authors: pujol p. J Med Genet. 2025 Jan 9:jmg-2024-110449. doi: 10.1136/jmg-2024-110449. Online ahead of print. J Med Genet. 2025. PMID: 39788694
Homologous recombination deficiency in ovarian cancer: Global expert consensus on testing and a comparison of companion diagnostics.
Quesada S, Penault-Llorca F, Matias-Guiu X, Banerjee S, Barberis M, Coleman RL, Colombo N, DeFazio A, McNeish IA, Nogueira-Rodrigues A, Oaknin A, Pignata S, Pujade-Lauraine É, Rouleau É, Ryška A, Van Der Merwe N, Van Gorp T, Vergote I, Weichert W, Wu X, Ray-Coquard I, Pujol P; expert consensus group. Quesada S, et al. Among authors: pujol p. Eur J Cancer. 2025 Jan 17;215:115169. doi: 10.1016/j.ejca.2024.115169. Epub 2024 Dec 9. Eur J Cancer. 2025. PMID: 39693891
Recommandations francophones pour la pratique clinique concernant la prise en charge des cancers du sein de Saint-Paul-de-Vence 2022-2023.
Gligorov J, Benderra MA, Barthere X, de Forceville L, Antoine EC, Cottu PH, Delaloge S, Pierga JY, Belkacemi Y, Houvenaegel G, Pujol P, Rivera S, Spielmann M, Penault-Llorca F, Namer M; et l'ensemble des experts des votes des RPC Saint-Paul 2022-2023. Gligorov J, et al. Among authors: pujol p. Bull Cancer. 2023 Nov;110(10S):10S1-10S43. doi: 10.1016/S0007-4551(23)00473-3. Bull Cancer. 2023. PMID: 38061827
Cancer hygiene hypothesis: A test from wild captive mammals.
Dujon AM, Jeanjean J, Vincze O, Giraudeau M, Lemaître JF, Pujol P, Ujvari B, Thomas F. Dujon AM, et al. Among authors: pujol p. Ecol Evol. 2023 Sep 22;13(9):e10547. doi: 10.1002/ece3.10547. eCollection 2023 Sep. Ecol Evol. 2023. PMID: 37745791 Free PMC article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
221 results