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Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.
J Clin Endocrinol Metab. 2024 Apr 16:dgae251. doi: 10.1210/clinem/dgae251. Online ahead of print.
J Clin Endocrinol Metab. 2024.
PMID: 38623954
Free article.
Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis.
Liimatta J, Curschellas E, Altinkilic EM, Naamneh Elzenaty R, Augsburger P, du Toit T, Voegel CD, Breault DT, Flück CE, Pignatti E.
Liimatta J, et al. Among authors: naamneh elzenaty r.
Endocrinology. 2024 Jan 16;165(3):bqae014. doi: 10.1210/endocr/bqae014.
Endocrinology. 2024.
PMID: 38301271
Free PMC article.
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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: naamneh elzenaty r.
PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023.
PLoS One. 2023.
PMID: 37432935
Free PMC article.
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Basics of androgen synthesis and action.
Naamneh Elzenaty R, du Toit T, Flück CE.
Naamneh Elzenaty R, et al.
Best Pract Res Clin Endocrinol Metab. 2022 Jul;36(4):101665. doi: 10.1016/j.beem.2022.101665. Epub 2022 May 6.
Best Pract Res Clin Endocrinol Metab. 2022.
PMID: 35595638
Free article.
Review.
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