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The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
Landa I, Ruiz-Llorente S, Montero-Conde C, Inglada-Pérez L, Schiavi F, Leskelä S, Pita G, Milne R, Maravall J, Ramos I, Andía V, Rodríguez-Poyo P, Jara-Albarrán A, Meoro A, del Peso C, Arribas L, Iglesias P, Caballero J, Serrano J, Picó A, Pomares F, Giménez G, López-Mondéjar P, Castello R, Merante-Boschin I, Pelizzo MR, Mauricio D, Opocher G, Rodríguez-Antona C, González-Neira A, Matías-Guiu X, Santisteban P, Robledo M. Landa I, et al. Among authors: gimenez g. PLoS Genet. 2009 Sep;5(9):e1000637. doi: 10.1371/journal.pgen.1000637. Epub 2009 Sep 4. PLoS Genet. 2009. PMID: 19730683 Free PMC article.
Dopaminergic resistance in a case of invasive macroprolactinoma.
Schwarzstein D, García-Patterson A, Giménez G, Calaf J, Puig-Domingo M, Caixàs A, Matías-Guiu X, Webb SM. Schwarzstein D, et al. Among authors: gimenez g. J Endocrinol Invest. 1993 Jun;16(6):443-7. doi: 10.1007/BF03348879. J Endocrinol Invest. 1993. PMID: 8103781
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: gimenez g. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M, Hoosemans L, Vanmechelen M, van Heumen M, Piepers JAF, Astuti G, Ackermans L, Schijns OEMG, Kampen KR, Tjan-Heijnen VCG, de Barbanson BA, Postma AA, Eekers DBP, Broen MPG, Beckervordersandforth J, Staňková K, de Smet F, Rich J, Hubert CG, Gimenez G, Chatterjee A, Hoeben A, Vooijs MA. Verduin M, et al. Among authors: gimenez g. Neurooncol Adv. 2023 Nov 25;5(1):vdad152. doi: 10.1093/noajnl/vdad152. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 38130902 Free PMC article.
182 results