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Isolated glucocorticoid deficiency: Genetic causes and animal models.
J Steroid Biochem Mol Biol. 2019 May;189:73-80. doi: 10.1016/j.jsbmb.2019.02.012. Epub 2019 Feb 25.
J Steroid Biochem Mol Biol. 2019.
PMID: 30817990
Review.
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA.
Maudhoo A, et al.
Endocrinol Diabetes Metab Case Rep. 2021 Sep 1;2021:21-0128. doi: 10.1530/EDM-21-0128. Online ahead of print.
Endocrinol Diabetes Metab Case Rep. 2021.
PMID: 34564059
Free PMC article.
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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: maudhoo a.
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.
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Viral pulmonary infection in pregnancy - Including COVID-19, SARS, influenza A, and varicella.
Maudhoo A, Khalil A.
Maudhoo A, et al.
Best Pract Res Clin Obstet Gynaecol. 2022 Dec;85(Pt A):17-25. doi: 10.1016/j.bpobgyn.2022.06.006. Epub 2022 Jul 9.
Best Pract Res Clin Obstet Gynaecol. 2022.
PMID: 35977871
Free PMC article.
Review.
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Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic.
Brown EG, Watts I, Beales ER, Maudhoo A, Hayward J, Sheridan E, Rafi I.
Brown EG, et al. Among authors: maudhoo a.
Genet Med. 2021 Aug;23(8):1438-1449. doi: 10.1038/s41436-021-01149-2. Epub 2021 Apr 6.
Genet Med. 2021.
PMID: 33824502
Free PMC article.
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