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Sexual Differentiation and Disorders Sign in to save
Papers per year
Papers 47
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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd J. W. Tack, Martine Cools, +67 more
42citations -
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry2021 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Irina Bacila, Nicole Freeman, Eleni Daniel, Marija Sandrk, Jillian Bryce, Salma Ali, +39 more
35citations -
Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions2020 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Trine Holm Johannsen, Anna‐Maria Andersson, S. Faisal Ahmed, Yolanda B. de Rijke, Ronda F. Greaves, Michaela F. Hartmann, +12 more
31citations -
Brain structure changes associated with sexual orientation2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Mikhail Votinov, Katharina S. Goerlich, Andrei Alexandru Puiu, Elke Stefanie Smith, Thomas K. Nickl-Jockschat, Birgit Derntl, +1 more
26citations -
Gonadectomy in conditions affecting sex development: a registry-based cohort study2021 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Angela Katrina Lucas-Herald, Jillian Bryce, Andreas Kyriakou, Marie Lindhardt Ljubicic, Wiebke Arlt, Laura Audı́, +51 more
19citations -
Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency2022 Radboud Repository (Radboud University) article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders
Mariska A M Schröder, Antonius Eduard van Herwaarden, Paul N. Span, Erica L T van den Akker, Gianni Bocca, Sabine Elisabeth Hannema, +1 more
19citations -
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Yolande van Bever, Hennie T. Brüggenwirth, Katja P. Wolffenbuttel, Arianne B. Dessens, Irene A.L. Groenenberg, Maarten F. C. M. Knapen, +9 more
18citations -
Assessing the health-related management of people with differences of sex development2021 Endocrine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Martina Jürgensen, Marion Rapp, Ulla Döhnert, Fabian‐Simon Frielitz, S. Faisal Ahmed, Martine Cools, +2 more
17citations -
Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure14citations
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The external genitalia score (EGS): A European multicenter validation study2020 Yearbook of pediatric endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders
Van der Straaten S, Doris Hebenstreit, Ursula Tonnhofer, Anna Gawlik, Małgorzata Baumert, Sara Debulpaep, +17 more
14citations -
An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia2023 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Annelies van’t Westeinde, Leif Karlsson, Valeria Messina, Lena Wallensteen, Manuela Brösamle, Giorgio Dal Maso, +9 more
14citations -
Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study2023 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Mariska A M Schröder, Mihaela Neacşu, Bas P H Adriaansen, Fred C.G.J. Sweep, S. Faisal Ahmed, Salma Ali, +26 more
13citations -
Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure2022 Greater South Information System article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Uta Neumann, Ruth Elisabeth Krone, Nils Peter Krone, Ayla Güven, Tülay Güran, Heba Hassan Elsedfy, +21 more
11citations -
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development2021 Clinical Endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders
Lloyd J. W. Tack, Saskia van der Straaten, Stefan Riedl, Alexander Springer, Paul‐Martin Holterhus, Nadine Hornig, +19 more
11citations -
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations2023 PLoS ONE article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
11citations -
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri, Kay‐Sara Sauter, Grit Sommer, Luis Antonio Castaño, +1 more
10citations -
Social Management Training in Males With 47,XXY (Klinefelter Syndrome): A Pilot Study of a Neurocognitive-Behavioral Treatment Targeting Social, Emotional, and Behavioral Problems2020 American Journal on Intellectual and Developmental Disabilities article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Francien Martin, Sophie van Rijn, Marit Bierman, Hanna Swaab
9citations -
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry2022 Clinical Endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Neil Lawrence, Irina Bacila, Jeremy Dawson, Jillian Bryce, Salma Ali, Erica L T van den Akker, +26 more
9citations -
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, +66 more
9citations
Most active Aachen authors
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Sabine Elisabeth Hannema 6,234 citations overall16 papers
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Idoia Martinez de la Piscina 517 citations overall7 papers
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Christiaan de Bruin 658 citations overall6 papers
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Luis Antonio Castaño 12,187 citations overall3 papers
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Hanna Swaab 8,705 citations overall3 papers
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Lara Marise Wierenga 3,707 citations overall2 papers
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Sophie van Rijn 2,923 citations overall2 papers
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Sarah Burke 1,032 citations overall2 papers
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Andrea Maria Isidori 25,938 citations overall1 paper
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Alberto M. Pereira 22,314 citations overall1 paper