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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: martinez de lapiscina i. Int J Mol Sci. 2024 Sep 20;25(18):10109. doi: 10.3390/ijms251810109. Int J Mol Sci. 2024. PMID: 39337600 Free PMC article.
Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age.
Urrutia I, Martinez R, Calvo B, Marcelo I, Saso-Jimenez L, Martinez de Lapiscina I, Bilbao JR, Castano L, Rica I; Collaborative Working Group. Urrutia I, et al. Among authors: martinez de lapiscina i. Front Endocrinol (Lausanne). 2024 Aug 12;15:1411686. doi: 10.3389/fendo.2024.1411686. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39188918 Free PMC article.
Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.
Naamneh Elzenaty R, Martinez de Lapiscina I, Kouri C, Sauter KS, Sommer G, Castaño L, Flück CE; SF1next study group. Naamneh Elzenaty R, et al. Among authors: martinez de lapiscina i. 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.
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. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.
21 results