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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: krausz c. 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.
Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.
Nordenström A, Ahmed SF, van den Akker E, Blair J, Bonomi M, Brachet C, Broersen LHA, Claahsen-van der Grinten HL, Dessens AB, Gawlik A, Gravholt CH, Juul A, Krausz C, Raivio T, Smyth A, Touraine P, Vitali D, Dekkers OM. Nordenström A, et al. Among authors: krausz c. Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. doi: 10.1530/EJE-22-0073. Eur J Endocrinol. 2022. PMID: 35353710 Free PMC article.
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. Lillepea K, et al. Among authors: krausz c. Am J Hum Genet. 2024 May 2;111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013. Epub 2024 Apr 12. Am J Hum Genet. 2024. PMID: 38614076
Epidemiology, diagnosis, and treatment of male hypogonadotropic hypogonadism.
Lenzi A, Balercia G, Bellastella A, Colao A, Fabbri A, Foresta C, Galdiero M, Gandini L, Krausz C, Lombardi G, Lombardo F, Maggi M, Radicioni A, Selice R, Sinisi AA, Forti G. Lenzi A, et al. Among authors: krausz c. J Endocrinol Invest. 2009 Dec;32(11):934-8. doi: 10.1007/BF03345775. Epub 2009 Dec 1. J Endocrinol Invest. 2009. PMID: 19955846 Review.
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. Riera-Escamilla A, et al. Among authors: krausz c. Hum Reprod. 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042. Hum Reprod. 2019. PMID: 31125047
A clinical approach to parasellar lesions in the transition age.
Sbardella E, Puliani G, Feola T, Pofi R, Pirchio R, Sesti F, Verdecchia F, Gianfrilli D, Moffat D, Isidori AM, Grossman AB; Talent group. Sbardella E, et al. J Neuroendocrinol. 2021 Jun;33(6):e12995. doi: 10.1111/jne.12995. J Neuroendocrinol. 2021. PMID: 34138496 Review.
209 results