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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: gravholt ch. 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.
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay.
Persani L, Bonomi M, Cools M, Dattani M, Dunkel L, Gravholt CH, Juul A. Persani L, et al. Among authors: gravholt ch. Endocrine. 2021 Mar;71(3):681-688. doi: 10.1007/s12020-021-02626-z. Epub 2021 Jan 29. Endocrine. 2021. PMID: 33512657 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: gravholt ch. 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.
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: gravholt ch. 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.
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.
Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkebæk A, Tartaglia N, Swaab H. Gravholt CH, et al. Endocr Connect. 2023 Feb 8;12(3):e220500. doi: 10.1530/EC-22-0500. Print 2023 Mar 1. Endocr Connect. 2023. PMID: 36598290 Free PMC article. Review.
AMH and other markers of ovarian function in patients with Turner syndrome - a single center experience of transition from pediatric to gynecological follow up.
Hagen CP, Fischer MB, Mola G, Mikkelsen TB, Cleemann LH, Gravholt CH, Viuff MH, Juul A, Pedersen AT, Main KM. Hagen CP, et al. Among authors: gravholt ch. Front Endocrinol (Lausanne). 2023 Jun 29;14:1173600. doi: 10.3389/fendo.2023.1173600. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37455919 Free PMC article. Review.
Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.
Berglund A, Johannsen EB, Skakkebæk A, Chang S, Rohayem J, Laurentino S, Hørlyck A, Drue SO, Bak EN, Fedder J, Tüttelmann F, Gromoll J, Just J, Gravholt CH. Berglund A, et al. Among authors: gravholt ch. Biol Sex Differ. 2024 Oct 8;15(1):77. doi: 10.1186/s13293-024-00654-8. Biol Sex Differ. 2024. PMID: 39380113 Free PMC article.
310 results