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Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
McGlacken-Byrne SM, Del Valle I, Quesne Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T, Buonocore F; GOSgene; Crespo B, Moreno N, Niola P, Brooks T, Brain CE, Dattani MT, Kelberman D, Vento-Tormo R, Lagos CF, Livera G, Conway GS, Achermann JC. McGlacken-Byrne SM, et al. Among authors: brain ce. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671. JCI Insight. 2022. PMID: 35138268 Free PMC article.
Holistic management of DSD.
Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. Brain CE, et al. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54. doi: 10.1016/j.beem.2010.01.006. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541156 Free PMC article. Review.
Thyroid Surgery in Children: Clinical Outcomes.
Sinha CK, Decoppi P, Pierro A, Brain C, Hindmarsh P, Butler G, Dattani M, Spoudeas H, Kurzawinski TR. Sinha CK, et al. Eur J Pediatr Surg. 2015 Oct;25(5):425-9. doi: 10.1055/s-0034-1384649. Epub 2014 Aug 21. Eur J Pediatr Surg. 2015. PMID: 25144354
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: brain ce. 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.
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: brain ce. 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.
69 results