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GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
Martinez de LaPiscina I, de Mingo C, Riedl S, Rodriguez A, Pandey AV, Fernández-Cancio M, Camats N, Sinclair A, Castaño L, Audi L, Flück CE. Martinez de LaPiscina I, et al. Among authors: fluck ce. Front Endocrinol (Lausanne). 2018 Apr 4;9:142. doi: 10.3389/fendo.2018.00142. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29670578 Free PMC article.
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
Martínez de LaPiscina I, Mahmoud RA, Sauter KS, Esteva I, Alonso M, Costa I, Rial-Rodriguez JM, Rodríguez-Estévez A, Vela A, Castano L, Flück CE. Martínez de LaPiscina I, et al. Among authors: fluck ce. Int J Mol Sci. 2020 Nov 13;21(22):8554. doi: 10.3390/ijms21228554. Int J Mol Sci. 2020. PMID: 33202802 Free PMC article.
Genetics of human sexual development and related disorders.
Martinez de LaPiscina I, Flück CE. Martinez de LaPiscina I, et al. Among authors: fluck ce. Curr Opin Pediatr. 2021 Dec 1;33(6):556-563. doi: 10.1097/MOP.0000000000001066. Curr Opin Pediatr. 2021. PMID: 34654048 Review.
Basics of androgen synthesis and action.
Naamneh Elzenaty R, du Toit T, Flück CE. Naamneh Elzenaty R, et al. Among authors: fluck ce. 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.
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: fluck ce. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.
183 results