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Page 1
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: bignon yj. 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.
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S. Chevarin M, et al. Among authors: bignon yj. Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358. Oncotarget. 2023. PMID: 36749285 Free PMC article.
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: bignon yj. 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.
Systematic Review of COVID-19-Related Physical Activity-Based Rehabilitations: Benefits to Be Confirmed by More Robust Methodological Approaches.
Bailly M, Pélissier L, Coudeyre E, Evrard B, Bingula R, Rochette C, Mériade L, Blavignac C, Fournier AC, Bignon YJ, Rannou F, Dutheil F, Thivel D, Duclos M. Bailly M, et al. Among authors: bignon yj. Int J Environ Res Public Health. 2022 Jul 25;19(15):9025. doi: 10.3390/ijerph19159025. Int J Environ Res Public Health. 2022. PMID: 35897400 Free PMC article. Review.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Guérin C, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E. Sebai M, et al. Among authors: bignon yj. Hum Mutat. 2022 Mar;43(3):316-327. doi: 10.1002/humu.24313. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 34882875
Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ. Laraqui A, et al. Among authors: bignon yj. J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713. eCollection 2021. J Genomics. 2021. PMID: 34646395 Free PMC article.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf… See abstract for full author list ➔ Caputo SM, et al. Among authors: bignon yj. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon MG, Golmard L, Rouleau E, Garrec C, Martinez M, Toulas C, Nguyen TD, Brayotel F, Crivelli L, Maugard CM, Bubien V, Sevenet N, Gesta P, Chieze-Valero S, Nambot S, Goussot V, Mari V, Popovici C, Prieur F, Morin-Meschin ME, Tinat J, Lortholary A, Dreyfus H, Bidart M, Collonge-Rame MA, Mozelle-Nivoix M, Gladieff L, Giraud S, Boutry-Kryza N, Chiesa J, Denizeau P, Bignon YJ, Uhrhammer N, Cohen-Haguenauer O, Vilquin P, Mailliez A, Coupier I, Rey JM, Lacaze E, Béra O, Colas C, Coulet F, Delnatte C, Houdayer C, Lasset C, Lemonnier J, Longy M, Noguès C, Stoppa-Lyonnet D, Vaur D, Andrieu N, Caron O. Lesueur F, et al. Among authors: bignon yj. Cancers (Basel). 2021 Jul 21;13(15):3659. doi: 10.3390/cancers13153659. Cancers (Basel). 2021. PMID: 34359559 Free PMC article.
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