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Items: 1 to 20 of 91

1.

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.

Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29. Review.

PMID:
23279877
2.

ACTH resistance: genes and mechanisms.

Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJ, Metherell LA.

Endocr Dev. 2013;24:57-66. doi: 10.1159/000342504. Epub 2013 Feb 1. Review.

PMID:
23392095
3.

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2015 Dec;58(12):642-9. doi: 10.1016/j.ejmg.2015.11.001. Epub 2015 Nov 6. Review.

PMID:
26548497
4.

Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.

Gorrigan RJ, Guasti L, King P, Clark AJ, Chan LF.

J Mol Endocrinol. 2011 Jun 9;46(3):227-32. doi: 10.1530/JME-11-0011. Print 2011 Jun.

5.

The genetics of ACTH resistance syndromes.

Metherell LA, Chan LF, Clark AJ.

Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. Review.

PMID:
17161331
6.

Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.

Dias RP, Chan LF, Metherell LA, Pearce SH, Clark AJ.

Eur J Endocrinol. 2010 Feb;162(2):357-9. doi: 10.1530/EJE-09-0720. Epub 2009 Nov 10.

7.

Adrenocorticotropin resistance syndromes.

Cooray SN, Chan L, Metherell L, Storr H, Clark AJ.

Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Review.

PMID:
18493136
8.

A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.

Akin MA, Akin L, Coban D, Ozturk MA, Bircan R, Kurtoglu S.

Neonatology. 2011;100(3):277-81. doi: 10.1159/000323913. Epub 2011 Jun 23.

PMID:
21701219
9.

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJ, Metherell LA.

Eur J Pediatr. 2013 Oct;172(10):1407-10. doi: 10.1007/s00431-013-2044-1. Epub 2013 May 26.

PMID:
23708259
10.

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

Hughes CR, Guasti L, Meimaridou E, Chuang CH, Schimenti JC, King PJ, Costigan C, Clark AJ, Metherell LA.

J Clin Invest. 2012 Mar;122(3):814-20. doi: 10.1172/JCI60224. Epub 2012 Feb 22.

11.

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T.

Endocr J. 2013;60(7):855-9. Epub 2013 Mar 9.

12.

Heterogeneity in the molecular basis of ACTH resistance syndrome.

Collares CV, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MM, Elias Junior J, Clark AJ, de Castro M, Elias LL.

Eur J Endocrinol. 2008 Jul;159(1):61-8. doi: 10.1530/EJE-08-0079. Epub 2008 Apr 21.

13.

The molecular basis of adrenocorticotrophin resistance syndrome.

Elias LL, Clark AL.

Prog Mol Biol Transl Sci. 2009;88:155-71. doi: 10.1016/S1877-1173(09)88005-8. Epub 2009 Oct 7. Review.

PMID:
20374727
14.

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Chan LF, Clark AJ, Metherell LA.

Horm Res. 2008;69(2):75-82. Epub 2007 Dec 5. Review.

15.

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.

Malikova J, Flück CE.

Horm Res Paediatr. 2014;82(3):145-57. doi: 10.1159/000363107. Epub 2014 Aug 1. Review.

16.

Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene.

Jacoby E, Barzilai A, Laufer J, Pade S, Anikster Y, Pinhas-Hamiel O, Greenberger S.

Pediatr Dermatol. 2014 Jan-Feb;31(1):e13-7. doi: 10.1111/pde.12247. Epub 2013 Nov 14.

PMID:
24224542
17.

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJ, Metherell LA.

J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28.

PMID:
20427498
18.

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Chung TT, Chan LF, Metherell LA, Clark AJ.

Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.

19.

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ.

Nat Genet. 2005 Feb;37(2):166-70. Epub 2005 Jan 16.

PMID:
15654338
20.

Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency.

Matsuura H, Shiohara M, Yamano M, Kurata K, Arai F, Koike K.

J Pediatr Endocrinol Metab. 2006 Sep;19(9):1167-70.

PMID:
17128565

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