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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.
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE. Camats N, et al. Among authors: fluck ce. PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015. PLoS One. 2015. PMID: 26580071 Free PMC article.
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.
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Katharopoulos E, Di Iorgi N, Fernandez-Alvarez P, Pandey AV, Groessl M, Dubey S, Camats N, Napoli F, Patti G, Lezzi M, Maghnie M, Flück CE. Katharopoulos E, et al. Among authors: fluck ce. Int J Mol Sci. 2020 Aug 27;21(17):6185. doi: 10.3390/ijms21176185. Int J Mol Sci. 2020. PMID: 32867102 Free PMC article.
183 results