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CPMS-improving patient care in Europe via virtual case discussions.
Endocrine. 2021 Mar;71(3):549-554. doi: 10.1007/s12020-021-02628-x. Epub 2021 Feb 2.
Endocrine. 2021.
PMID: 33528763
Free PMC article.
Review.
Pubertal development in 46,XY patients with NR5A1 mutations.
Mönig I, Schneidewind J, Johannsen TH, Juul A, Werner R, Lünstedt R, Birnbaum W, Marshall L, Wünsch L, Hiort O.
Mönig I, et al.
Endocrine. 2022 Feb;75(2):601-613. doi: 10.1007/s12020-021-02883-y. Epub 2021 Oct 6.
Endocrine. 2022.
PMID: 34613524
Free PMC article.
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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE; SF1next study group.
Kouri C, et al.
EBioMedicine. 2024 Jan;99:104941. doi: 10.1016/j.ebiom.2023.104941. Epub 2024 Jan 1.
EBioMedicine. 2024.
PMID: 38168586
Free PMC article.
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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. Among authors: monig i.
PLoS One. 2017 May 1;12(5):e0176720. doi: 10.1371/journal.pone.0176720. eCollection 2017.
PLoS One. 2017.
PMID: 28459839
Free PMC article.
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Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.
Naamneh Elzenaty R, Martinez de Lapiscina I, Kouri C, Sauter KS, Sommer G, Castaño L, Flück CE; SF1next study group.
Naamneh Elzenaty R, et al.
J Clin Endocrinol Metab. 2024 Apr 16:dgae251. doi: 10.1210/clinem/dgae251. Online ahead of print.
J Clin Endocrinol Metab. 2024.
PMID: 38623954
Free article.
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Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
Werner R, Mönig I, August J, Freiberg C, Lünstedt R, Reiz B, Wünsch L, Holterhus PM, Kulle A, Döhnert U, Wudy SA, Richter-Unruh A, Thorns C, Hiort O.
Werner R, et al. Among authors: monig i.
Sex Dev. 2015;9(5):260-8. doi: 10.1159/000442309. Epub 2015 Dec 18.
Sex Dev. 2015.
PMID: 26681172
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