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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. Persani L, et al. Among authors: rohayem j. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36228316 Free PMC article.
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, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.
Nowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, Bertherat J, Blankenstein O, Bonomi M, Bouvattier C, Brac de la Perrière A, Brucker S, Cappa M, Chanson P, Claahsen-van der Grinten HL, Colao A, Cools M, Davies JH, Dörr HG, Fenske WK, Ghigo E, Giordano R, Gravholt CH, Huebner A, Husebye ES, Igbokwe R, Juul A, Kiefer FW, Léger J, Menassa R, Meyer G, Neocleous V, Phylactou LA, Rohayem J, Russo G, Scaroni C, Touraine P, Unger N, Vojtková J, Yeste D, Lajic S, Reisch N. Nowotny H, et al. Among authors: rohayem j. Eur J Endocrinol. 2022 Mar 23;186(5):K17-K24. doi: 10.1530/EJE-21-0554. Eur J Endocrinol. 2022. PMID: 35235536 Free PMC article.
Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD.
Wiegmann S, Ernst M, Ihme L, Wechsung K, Kalender U, Stöckigt B, Richter-Unruh A, Vögler S, Hiort O, Jürgensen M, Marshall L, Menrath I, Schneidewind J, Wagner I, Rohayem J, Liesenkötter KP, Wabitsch M, Fuchs M, Herrmann G, Lutter H, Ernst G, Lehmann C, Haase M, Roll S, Schilling R, Keil T, Neumann U. Wiegmann S, et al. Among authors: rohayem j. BMC Endocr Disord. 2022 Jun 27;22(1):166. doi: 10.1186/s12902-022-01079-3. BMC Endocr Disord. 2022. PMID: 35761280 Free PMC article.
Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? -a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence.
Rohayem J, Hauffa BP, Zacharin M, Kliesch S, Zitzmann M; “German Adolescent Hypogonadotropic Hypogonadism Study Group”. Rohayem J, et al. Clin Endocrinol (Oxf). 2017 Jan;86(1):75-87. doi: 10.1111/cen.13164. Epub 2016 Sep 7. Clin Endocrinol (Oxf). 2017. PMID: 27467188 Clinical Trial.
76 results