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Broader impact and outcome of human NR5A1/SF1 variants.
Kouri C, Naamneh-Elzenaty R, de Lapiscina IM, Flück CE. Kouri C, et al. Best Pract Res Clin Endocrinol Metab. 2025 Jul;39(4):102023. doi: 10.1016/j.beem.2025.102023. Epub 2025 Jul 4. Best Pract Res Clin Endocrinol Metab. 2025. PMID: 40645834 Free article. Review.
Population-Based Study of Rare Coding Variants in NR5A1/SF-1.
Kouri C, Jia RY, Kentistou KA, Gardner EJ, Perry JRB, Flück CE, Ong KK. Kouri C, et al. J Endocr Soc. 2024 Oct 23;8(12):bvae178. doi: 10.1210/jendso/bvae178. eCollection 2024 Oct 29. J Endocr Soc. 2024. PMID: 39479520 Free PMC article.
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R, Kouri C, Martinez de Lapiscina I, Sauter KS, Moreno F, Camats-Tarruella N, Flück CE. Naamneh Elzenaty R, et al. Among authors: kouri c. Int J Mol Sci. 2024 Sep 20;25(18):10109. doi: 10.3390/ijms251810109. Int J Mol Sci. 2024. PMID: 39337600 Free PMC article.
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE. Martinez de Lapiscina I, et al. Among authors: kouri c. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.