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Isolated glucocorticoid deficiency: Genetic causes and animal models.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L. Maharaj A, et al. Among authors: metherell la. 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.
Tall stature in familial glucocorticoid deficiency.
Elias LL, Huebner A, Metherell LA, Canas A, Warne GL, Bitti ML, Cianfarani S, Clayton PE, Savage MO, Clark AJ. Elias LL, et al. Among authors: metherell la. Clin Endocrinol (Oxf). 2000 Oct;53(4):423-30. doi: 10.1046/j.1365-2265.2000.01122.x. Clin Endocrinol (Oxf). 2000. PMID: 11012566
Genetics of ACTH insensitivity syndromes.
Clark JL, Metherell LA, Naville D, Begeot M, Huebner A. Clark JL, et al. Among authors: metherell la. Ann Endocrinol (Paris). 2005 Jun;66(3):247-9. doi: 10.1016/s0003-4266(05)81757-3. Ann Endocrinol (Paris). 2005. PMID: 15988386 Review.
The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF, Clark AJ. Metherell LA, et al. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. doi: 10.1016/j.beem.2006.09.002. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161331 Review.
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL. Cooray SN, et al. Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Endocr Dev. 2008. PMID: 18493136 Review.
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJ. Chung TT, et al. Among authors: metherell la. J Clin Endocrinol Metab. 2008 Dec;93(12):4948-54. doi: 10.1210/jc.2008-1744. Epub 2008 Oct 7. J Clin Endocrinol Metab. 2008. PMID: 18840636 Free PMC article.
115 results