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2025
Correction to: Quality of care for people with differences of sex development (DSD) in Germany
Schnoor, M., Heidenreich, A., Jürgensen, M., Döhnert, U., Hiort, O. & Katalinic, A., 12.03.2025, In: Orphanet Journal of Rare Diseases. 20, 1, p. 119 119.Research output: Journal Articles › Comments/Debates
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Satisfaction with health care among people with differences of sex development (DSD) in Germany
Schnoor, M., Heidenreich, A., Jürgensen, M., Döhnert, U., Hiort, O. & Katalinic, A., 01.03.2025, In: Endocrine Connections. 14, 3, e240647.Research output: Journal Articles › Journal articles › Research › peer-review
2 Link opens in a new tab Citations (Scopus) -
The Effect of Parental Weight and Genetics on the Body Mass Index of Very Low Birth Weight Infants as They Reach School Age
Göpel, W., Lüders, C., Heinze, K., Rausch, T. K., Fortmann, I., Szymczak, S., König, I. R., Herting, E. & Hanke, K., 07.02.2025, In: Deutsches Arzteblatt International. 122, 3, p. 65-70 6 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2024
Development of quality indicators to evaluate the quality of care for people with Differences of Sex Development (DSD)
Jürgensen, M. & DSDCare Study Group, 29.07.2024, In: Hormone Research in Paediatrics. 98, 6, p. 699 - 708 10 p.Research output: Journal Articles › Journal articles › Research › peer-review
6 Link opens in a new tab Citations (Scopus) -
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
Pozojevic, J., Sivaprasad, R., Laß, J., Haarich, F., Trinh, J., Kakar, N., Schulz, K., Händler, K., Verrijn Stuart, A. A., Giltay, J. C., van Gassen, K. L., Caliebe, A., Holterhus, P. M., Spielmann, M. & Hornig, N. C., 15.07.2024, In: Scientific Reports. 14, 1, p. 16302 16302.Research output: Journal Articles › Journal articles › Research › peer-review
3 Link opens in a new tab Citations (Scopus) -
Quality of care for people with differences of sex development (DSD) in Germany
Schnoor, M., Heidenreich, A., Jürgensen, M., Döhnert, U., Hiort, O. & Katalinic, A., 12.2024, In: Orphanet Journal of Rare Diseases. 19, 1, p. 460 460.Research output: Journal Articles › Journal articles › Research › peer-review
4 Link opens in a new tab Citations (Scopus) -
2023
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Fabbri-Scallet, H., Werner, R., Guaragna, M. S., De Andrade, J. G. R., Maciel-Guerra, A. T., Hornig, N. C., Hiort, O., Guerra-Júnior, G. & De Mello, M. P., 01.02.2023, In: Sexual Development. 16, 4, p. 252-260 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
8 Link opens in a new tab Citations (Scopus) -
Classic genetic and hormonal switches during fetal sex development and beyond
Holterhus, P. M., Kulle, A., Busch, H. & Spielmann, M., 01.09.2023, In: Medizinische Genetik. 35, 3, p. 163-171 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
2 Link opens in a new tab Citations (Scopus) -
Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine
Kulle, A. E., Jürgensen, M., Döhnert, U., Malich, L., Marshall, L. & Hiort, O., 01.09.2023, In: Medizinische Genetik. 35, 3, p. 181-187 7 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Is sex still binary?
Rehmann-Sutter, C., Hiort, O., Krämer, U. M., Malich, L. & Spielmann, M., 01.09.2023, In: Medizinische Genetik. 35, 3, p. 173-180 8 p.Research output: Journal Articles › Journal articles › Research › peer-review
11 Link opens in a new tab Citations (Scopus) -
The past and future of "sex genes"
Rehmann-Sutter, C., Hornig, N., Stammberger, B. & Stoff, H., 01.09.2023, In: Medizinische Genetik. 35, 3, p. 153-161 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
4 Link opens in a new tab Citations (Scopus) -
The Role of Genetics in Sex Diversity
Hiort, O., Krämer, U., Malich, L., Rehmann-Sutter, C. & Spielmann, M., 01.09.2023, In: Medizinische Genetik. 35, 3, p. 151-152 2 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2022
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
Francese-Santos, A. P., Meinel, J. A., Piveta, C. S. C., Andrade, J. G. R., Barros, B. A., Fabbri-Scallet, H., Gil-da-Silva-Lopes, V. L., Guerra-Junior, G., Künstner, A., Busch, H., Hiort, O., de Mello, M. P., Werner, R. & Maciel-Guerra, A. T., 2022, In: International Journal of Molecular Sciences. 24, 1, 494.Research output: Journal Articles › Journal articles › Research › peer-review
5 Link opens in a new tab Citations (Scopus) -
Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome
Kumar, A., Sharma, R., Faruq, M., Kumar, M., Sharma, S., Werner, R., Hiort, O. & Vandana, J., 01.01.2022, In: Sexual Development. 16, 1, p. 34-45 12 p.Research output: Journal Articles › Journal articles › Research › peer-review
12 Link opens in a new tab Citations (Scopus) -
Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE
Choukair, D., Lee-Kirsch, M. A., Berner, R., Grasemann, C., Hiort, O., Hauck, F., Klein, C., Druschke, D., Hoffmann, G. F. & Burgard, P., 01.2022, In: Monatsschrift fur Kinderheilkunde. 170, 1, p. 52-60 9 p.Translated title of the contribution :The clinical pathway for multidisciplinary treatment of rare diseases in pediatrics—Results from the TRANSLATE-NAMSE project Research output: Journal Articles › Journal articles › Research › peer-review
1 Link opens in a new tab Citation (Scopus) -
Intersex, DSD, and the child's wellbeing: changing perceptions
Hiort, O., Jürgensen, M. & Rehmann-Sutter, C., 01.05.2022, In: Hormone Research in Paediatrics. 95, 1, p. 21-24 4 p.Research output: Journal Articles › Comments/Debates
6 Link opens in a new tab Citations (Scopus) -
Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome
Auer, M. K., Birnbaum, W., Hartmann, M. F., Holterhus, P. M., Kulle, A., Lux, A., Marshall, L., Rall, K., Richter-Unruh, A., Werner, R., Wudy, S. A. & Hiort, O., 06.2022, In: Endocrine. 76, 3, p. 722-732 11 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2021
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders
Iotova, V., Schalin-Jäntti, C., Bruegmann, P., Broesamle, M., De Graaf, J., Bratina, N., Tillmann, V., Pereira, A. M. & Hiort, O., 03.2021, In: Endocrine. 71, 3, p. 542-548 7 p.Research output: Journal Articles › Journal articles › Research › peer-review
6 Link opens in a new tab Citations (Scopus) -
2020
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
Andrade, J. G. R., Fabbri-Scallet, H., Dos Santos, A. P., Cools, M., Werner, R., Hiort, O., De Mello, M. P., Guerra-Júnior, G. & Maciel-Guerra, A. T., 01.05.2020, In: Sexual Development. 13, 4, p. 171-177 7 p.Research output: Journal Articles › Journal articles › Research › peer-review
26 Link opens in a new tab Citations (Scopus) -
Genetic testing in inherited endocrine disorders: Joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
Eggermann, T., Elbracht, M., Kurth, I., Juul, A., Juul, A., Johannsen, T. H., Johannsen, T. H., Netchine, I., Mastorakos, G., Johannsson, G., Musholt, T. J., Zenker, M., Prawitt, D., Pereira, A. M. & Hiort, O., 08.06.2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 144 144.Research output: Journal Articles › Scientific review articles › Research
23 Link opens in a new tab Citations (Scopus) -
Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU cost action 'SDnet' and european reference network on rare endocrine conditions: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions
Working Group 3 'Harmonisation of Laboratory Assessment' of the European Cooperation in Science and Technology (COST) Action BM1303 'DSDnet' and Work Package 5 'Diagnostics and Laboratory Analysis' of the European Reference Network on Rare Endocrine Conditions, 06.2020, In: European Journal of Endocrinology. 182, 6, p. P1-P15Research output: Journal Articles › Journal articles › Research › peer-review
23 Link opens in a new tab Citations (Scopus) -
Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency
Kumar, A., Sharma, R., Faruq, M., Suroliya, V., Kumar, M., Sharma, S., Werner, R., Hiort, O. & Jain, V., 01.10.2020, In: Sexual Development. 13, 5-6, p. 228-239 12 p.Research output: Journal Articles › Journal articles › Research › peer-review
15 Link opens in a new tab Citations (Scopus) -
Varianten der Geschlechtsentwicklung bei Kindern und Jugendlichen: Grundlagen, Diagnostik und Management
Hiort, O., Marshall, L., Bacia, A., Bouteleux, M., Rody, A. & Wünsch, L., 25.11.2020, In: Gynakologische Endokrinologie.Translated title of the contribution :Differences of sex development in children and adolescents: Principles. diagnostics and management Research output: Journal Articles › Scientific review articles › Research