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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.
de Oliveira FR, Mazzola TN, de Mello MP, Francese-Santos AP, Lemos-Marini SHV, Maciel-Guerra AT, Hiort O, Werner R, Guerra-Junior G, Fabbri-Scallet H. de Oliveira FR, et al. Among authors: werner r. Life (Basel). 2023 Apr 27;13(5):1093. doi: 10.3390/life13051093. Life (Basel). 2023. PMID: 37240737 Free PMC article.
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Francese-Santos AP, Meinel JA, Piveta CSC, Andrade JGR, Barros BA, Fabbri-Scallet H, Gil-da-Silva-Lopes VL, Guerra-Junior G, Künstner A, Busch H, Hiort O, de Mello MP, Werner R, Maciel-Guerra AT. Francese-Santos AP, et al. Among authors: werner r. Int J Mol Sci. 2022 Dec 28;24(1):494. doi: 10.3390/ijms24010494. Int J Mol Sci. 2022. PMID: 36613932 Free PMC article.
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R, Mönig I, Lünstedt R, Wünsch L, Thorns C, Reiz B, Krause A, Schwab KO, Binder G, Holterhus PM, Hiort O. Werner R, et al. PLoS One. 2017 May 1;12(5):e0176720. doi: 10.1371/journal.pone.0176720. eCollection 2017. PLoS One. 2017. PMID: 28459839 Free PMC article.
1,334 results