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Adrenocortical development, maintenance, and disease.
Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L, King P. Yates R, et al. Among authors: hughes c. Curr Top Dev Biol. 2013;106:239-312. doi: 10.1016/B978-0-12-416021-7.00007-9. Curr Top Dev Biol. 2013. PMID: 24290352 Review.
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA. Meimaridou E, et al. Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29. Mol Cell Endocrinol. 2013. PMID: 23279877 Review.
ACTH resistance: genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJ, Metherell LA. Meimaridou E, et al. Among authors: hughes cr. Endocr Dev. 2013;24:57-66. doi: 10.1159/000342504. Epub 2013 Feb 1. Endocr Dev. 2013. PMID: 23392095 Review.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. Among authors: hughes cr. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Buonocore F, et al. Among authors: hughes cr. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1. J Endocr Soc. 2021. PMID: 34258490 Free PMC article.
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
Man E, Mushtaq I, Barnicoat A, Carmichael P, Hughes CR, Davies K, Aitkenhead H, Amin R, Buchanan CR, Cherian A, Costa NJ, Creighton SM, Duffy PG, Hewson E, Hindmarsh PC, Monzani LC, Peters CJ, Ransley PG, Smeulders N, Spoudeas HA, Wood D, Hughes IA, Katugampola H, Brain CE, Dattani MT, Achermann JC. Man E, et al. Among authors: hughes cr, hughes ia. J Endocr Soc. 2022 Oct 28;7(1):bvac165. doi: 10.1210/jendso/bvac165. eCollection 2022 Nov 17. J Endocr Soc. 2022. PMID: 36419940 Free PMC article.
3,817 results