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259 results

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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: hiort o. 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: 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.
[Differences in sexual development-S2k guideline update].
Krege S, Eckoldt F, Richter-Unruh A; Leitliniengruppe. Krege S, et al. Urologie. 2024 Apr 4. doi: 10.1007/s00120-024-02326-2. Online ahead of print. Urologie. 2024. PMID: 38573501 Review. German.
Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project.
Ali SR, Bryce J, Priego-Zurita AL, Cherenko M, Smythe C, de Rooij TM, Cools M, Danne T, Katugampola H, Dekkers OM, Hiort O, Linglart A, Netchine I, Nordenstrom A, Attila P, Persani L, Reisch N, Smyth A, Sumnik Z, Taruscio D, Visser WE, Pereira AM, Appelman-Dijkstra NM, Ahmed SF. Ali SR, et al. Among authors: hiort o. Endocr Connect. 2023 Nov 20;12(12):e230434. doi: 10.1530/EC-23-0434. Print 2023 Dec 1. Endocr Connect. 2023. PMID: 37902973 Free PMC article.
Transition for adolescents with a rare disease: results of a nationwide German project.
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D. Grasemann C, et al. Among authors: hiort o. Orphanet J Rare Dis. 2023 Apr 25;18(1):93. doi: 10.1186/s13023-023-02698-2. Orphanet J Rare Dis. 2023. PMID: 37098531 Free PMC article.
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. Among authors: hiort o. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
259 results