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Page 1
Clinico-pathological and epigenetic heterogeneity of diffuse gliomas with FGFR3::TACC3 fusion.
Métais A, Tauziède-Espariat A, Garcia J, Appay R, Uro-Coste E, Meyronet D, Maurage CA, Vandenbos F, Rigau V, Chiforeanu DC, Pallud J, Senova S, Saffroy R, Colin C, Edjlali M, Varlet P, Figarella-Branger D; Biopathology RENOCLIP-LOC network. Métais A, et al. Acta Neuropathol Commun. 2023 Jan 16;11(1):14. doi: 10.1186/s40478-023-01506-z. Acta Neuropathol Commun. 2023. PMID: 36647073 Free PMC article.
Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as "CNS embryonal tumor with BRD4-LEUTX fusion".
Lebrun L, Allard-Demoustiez S, Gilis N, Van Campenhout C, Rodesch M, Roman C, Calò P, Lolli V, David P, Fricx C, De Witte O, Escande F, Maurage CA, Salmon I. Lebrun L, et al. Among authors: escande f. Acta Neuropathol Commun. 2023 Mar 18;11(1):46. doi: 10.1186/s40478-023-01549-2. Acta Neuropathol Commun. 2023. PMID: 36934287 Free PMC article.
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Vanlerberghe C, Frénois F, Smol T, Jourdain AS, Escande F, Aït-Yahya E, Aldeeri AA, Yu TW, Cormier-Daire V, Ghoumid J, Jacob M, Newbury-Ecob R, Manouvrier S, Platon J, Sailer S, Brunelle P, Da Costa L, Petit F. Vanlerberghe C, et al. Among authors: escande f. Genet Med. 2024 Dec;26(12):101266. doi: 10.1016/j.gim.2024.101266. Epub 2024 Sep 10. Genet Med. 2024. PMID: 39268718
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Dufour W, Alawbathani S, Jourdain AS, Asif M, Baujat G, Becker C, Budde B, Gallacher L, Georgomanolis T, Ghoumid J, Höhne W, Lyonnet S, Ba-Saddik IA, Manouvrier-Hanu S, Motameny S, Noegel AA, Pais L, Vanlerberghe C, Wagle P, White SM, Willems M, Nürnberg P, Escande F, Petit F, Hussain MS. Dufour W, et al. Among authors: escande f. Genet Med. 2022 Aug;24(8):1708-1721. doi: 10.1016/j.gim.2022.04.022. Epub 2022 May 18. Genet Med. 2022. PMID: 35583550 Free article.
Comprehensive study of nine novel cases of TFEB-amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expression.
Kammerer-Jacquet SF, Gandon C, Dugay F, Laguerre B, Peyronnet B, Mathieu R, Verhoest G, Bensalah K, Leroy X, Aubert S, Vermaut C, Escande F, Verkarre V, Compérat E, Ambrosetti D, Pedeutour F, Belaud-Rotureau MA, Rioux-Leclercq N; members of CARARE French network (Rare Renal Carcinoma in Adults) of the INCa (National Institut of Cancer, France). Kammerer-Jacquet SF, et al. Among authors: escande f. Histopathology. 2022 Aug;81(2):228-238. doi: 10.1111/his.14683. Epub 2022 Jun 13. Histopathology. 2022. PMID: 35562857 Free article.
114 results