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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: hiort o. Int J Mol Sci. 2022 Dec 28;24(1):494. doi: 10.3390/ijms24010494. Int J Mol Sci. 2022. PMID: 36613932 Free PMC article.
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: hiort o. Life (Basel). 2023 Apr 27;13(5):1093. doi: 10.3390/life13051093. Life (Basel). 2023. PMID: 37240737 Free PMC article.
Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.
Boogers LS, Brüggenwirth HT, Wolffenbuttel KP, Hersmus R, Bryce J, Ahmed SF, Lucas-Herald AK, Baronio F, Cools M, Ellaithi M, Globa E, Güran T, Hiort O, Holterhus PM, MсElreavey K, Niedziela M, Stancampiano MR, Tosun BG, van Bever Y, Oosterhuis JW, Looijenga LHJ, Hannema SE. Boogers LS, et al. Among authors: hiort o. Eur J Endocrinol. 2025 Jan 6;192(1):34-45. doi: 10.1093/ejendo/lvae154. Eur J Endocrinol. 2025. PMID: 39782875
Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.
Patjamontri S, Lucas-Herald AK, Bryce J, van den Akker E, Cools M, Globa E, Guerra-Junior G, Hiort O, Hofman P, Holterhus PM, Hughes IA, Juul A, Nordenstrom A, Russo G, Stancampiano MR, Seneviratne SN, Tadokoro-Cuccaro R, Thankamony A, Weintrob N, Zelinska N, Ahmed SF. Patjamontri S, et al. Among authors: hiort o. J Clin Endocrinol Metab. 2024 Aug 30:dgae562. doi: 10.1210/clinem/dgae562. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39213311
Satisfaction with a new patient education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.
Wiegmann S, Schilling R, Winter M, Ernst M, Wechsung K, Kalender U, Stöckigt B, Richter-Unruh A, Hiort O, Döhnert U, Marshall L, Rohayem J, Liesenkötter KP, Wabitsch M, Herrmann G, Ernst G, Roll S, Keil T, Neumann U. Wiegmann S, et al. Among authors: hiort o. PEC Innov. 2024 Jul 8;5:100321. doi: 10.1016/j.pecinn.2024.100321. eCollection 2024 Dec 15. PEC Innov. 2024. PMID: 39104792 Free PMC article.
Is sex still binary?
Rehmann-Sutter C, Hiort O, Krämer UM, Malich L, Spielmann M. Rehmann-Sutter C, et al. Among authors: hiort o. Med Genet. 2023 Aug 16;35(3):173-180. doi: 10.1515/medgen-2023-2039. eCollection 2023 Sep. Med Genet. 2023. PMID: 38840819 Free PMC article.
The Role of Genetics in Sex Diversity.
Hiort O, Krämer U, Malich L, Rehmann-Sutter C, Spielmann M. Hiort O, et al. Med Genet. 2023 Aug 16;35(3):151-152. doi: 10.1515/medgen-2023-2035. eCollection 2023 Sep. Med Genet. 2023. PMID: 38840816 Free PMC article. No abstract available.
267 results