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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: hersmus r. Eur J Endocrinol. 2025 Jan 6;192(1):34-45. doi: 10.1093/ejendo/lvae154. Eur J Endocrinol. 2025. PMID: 39782875
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
Bever YV, Brüggenwirth HT, Wolffenbuttel KP, Dessens AB, Groenenberg IAL, Knapen MFCM, De Baere E, Cools M, van Ravenswaaij-Arts CMA, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema SE. Bever YV, et al. Among authors: hersmus r. J Med Genet. 2020 Sep;57(9):581-589. doi: 10.1136/jmedgenet-2019-106354. Epub 2020 Apr 17. J Med Genet. 2020. PMID: 32303604 Free PMC article. Review.
A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing.
Gravholt CH, Dollerup OL, Duval L, Mejlgaard E, Stribolt K, Vang S, Laursen BE, Knudsen M, Thorsen K, Hersmus R, Looijenga LHJ, Stochholm K. Gravholt CH, et al. Among authors: hersmus r. Sex Dev. 2017;11(5-6):262-268. doi: 10.1159/000484398. Epub 2017 Dec 2. Sex Dev. 2017. PMID: 29197878
Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.
Cools M, Wolffenbuttel KP, Hersmus R, Mendonca BB, Kaprová J, Drop SLS, Stoop H, Gillis AJM, Oosterhuis JW, Costa EMF, Domenice S, Nishi MY, Wunsch L, Quigley CA, T'Sjoen G, Looijenga LHJ. Cools M, et al. Among authors: hersmus r. Hum Reprod. 2017 Dec 1;32(12):2561-2573. doi: 10.1093/humrep/dex300. Hum Reprod. 2017. PMID: 29121256
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Robevska G, et al. Among authors: hersmus r. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29027299 Free PMC article.
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, van der Windt F, Hannema SE, Dessens AB, Dorssers LCJ, Biermann K, Hersmus R, de Rijke YB, Looijenga LHJ. van Bever Y, et al. Among authors: hersmus r. Sex Dev. 2018;12(1-3):145-154. doi: 10.1159/000479946. Epub 2017 Sep 20. Sex Dev. 2018. PMID: 28926831 Free PMC article.
47 results