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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Bouassida M, Molina-Gomes D, Koraichi F, Hervé B, Lhuilier M, Duvillier C, Le Gall J, Gauthier-Villars M, Serazin V, Quibel T, Dard R, Vialard F. Bouassida M, et al. Among authors: le gall j. Mol Genet Genomic Med. 2024 Apr;12(4):e2437. doi: 10.1002/mgg3.2437. Mol Genet Genomic Med. 2024. PMID: 38588252 Free PMC article.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Schwartz M, Ibadioune S, Vacher S, Villy MC, Trabelsi-Grati O, Le Gall J, Caputo SM, Delhomelle H, Warcoin M, Moncoutier V, Bourneix C, Boutry-Kryza N, De Pauw A, Stern MH, Buecher B, Mouret-Fourme E, Colas C, Stoppa-Lyonnet D, Masliah-Planchon J, Golmard L, Bieche I. Schwartz M, et al. Among authors: le gall j. Breast. 2024 Feb;73:103620. doi: 10.1016/j.breast.2023.103620. Epub 2023 Dec 10. Breast. 2024. PMID: 38096711 Free PMC article.
Diffuse Infiltrating Retinoblastoma with Anterior Chamber Involvement: Conservative Management and Identification of RB1 Alterations in Aqueous Humor.
Cassoux N, Malaise D, Lumbroso-Le-Rouic L, Le Gall J, Golmard L, Cardoen L, Freneaux P, Bouchoucha Y, Aerts I, Doz F, Matet A. Cassoux N, et al. Among authors: le gall j. Ocul Oncol Pathol. 2023 Sep;9(3-4):96-100. doi: 10.1159/000531233. Epub 2023 Jun 16. Ocul Oncol Pathol. 2023. PMID: 37900191 Free PMC article.
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
Le Gall J, Dehainault C, Boutte M, Petitalot A, Caputo SM, Courtois L, Vacher S, Bieche I, Radvanyi F, Pacquement H, Doz F, Lumbroso-Le Rouic L, Gauthier Villars M, Stoppa-Lyonnet D, Lallemand F, Houdayer C, Golmard L. Le Gall J, et al. J Med Genet. 2023 Dec 21;61(1):78-83. doi: 10.1136/jmg-2022-109105. J Med Genet. 2023. PMID: 37541786
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M, Moncoutier V, Peytral A, Le Gall J, Suybeng V, Pagès M, Masliah-Planchon J, Trabelsi-Grati O, Melaabi S, Callens C, Bièche I, Delhomelle H, De Pauw A, Saule C, Mouret-Fourme E, Gauthier-Villars M, Buecher B, Colas C, Stoppa-Lyonnet D, Golmard L. Schwartz M, et al. Among authors: le gall j. Clin Genet. 2023 Jul;104(1):107-113. doi: 10.1111/cge.14327. Epub 2023 Mar 27. Clin Genet. 2023. PMID: 36974006
576 results