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Items: 1 to 20 of 152

1.

Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

Mendonca BB, Leite MV, de Castro M, Kino T, Elias LL, Bachega TA, Arnhold IJ, Chrousos GP, Latronico AC.

J Clin Endocrinol Metab. 2002 Apr;87(4):1805-9.

PMID:
11932321
2.
3.

Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene.

Karl M, Lamberts SW, Detera-Wadleigh SD, Encio IJ, Stratakis CA, Hurley DM, Accili D, Chrousos GP.

J Clin Endocrinol Metab. 1993 Mar;76(3):683-9.

PMID:
8445027
4.

A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.

Nader N, Bachrach BE, Hurt DE, Gajula S, Pittman A, Lescher R, Kino T.

J Clin Endocrinol Metab. 2010 May;95(5):2281-5. doi: 10.1210/jc.2009-2463. Epub 2010 Mar 24.

5.

Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).

McMahon SK, Pretorius CJ, Ungerer JP, Salmon NJ, Conwell LS, Pearen MA, Batch JA.

J Clin Endocrinol Metab. 2010 Jan;95(1):297-302. doi: 10.1210/jc.2009-1003. Epub 2009 Nov 20.

PMID:
19933394
6.

A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

Charmandari E, Kino T, Ichijo T, Jubiz W, Mejia L, Zachman K, Chrousos GP.

J Clin Endocrinol Metab. 2007 Oct;92(10):3986-90. Epub 2007 Jul 17.

PMID:
17635946
7.
8.

Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.

Ruiz M, Lind U, Gåfvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikström AC, Werner S.

Clin Endocrinol (Oxf). 2001 Sep;55(3):363-71.

PMID:
11589680
9.

A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.

Nicolaides NC, Roberts ML, Kino T, Braatvedt G, Hurt DE, Katsantoni E, Sertedaki A, Chrousos GP, Charmandari E.

J Clin Endocrinol Metab. 2014 May;99(5):E902-7. doi: 10.1210/jc.2013-3005. Epub 2014 Jan 31.

10.

Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.

Bouligand J, Delemer B, Hecart AC, Meduri G, Viengchareun S, Amazit L, Trabado S, Fève B, Guiochon-Mantel A, Young J, Lombès M.

PLoS One. 2010 Oct 22;5(10):e13563. doi: 10.1371/journal.pone.0013563.

11.

GRKO mice express an aberrant dexamethasone-binding glucocorticoid receptor, but are profoundly glucocorticoid resistant.

Cole TJ, Myles K, Purton JF, Brereton PS, Solomon NM, Godfrey DI, Funder JW.

Mol Cell Endocrinol. 2001 Feb 28;173(1-2):193-202.

PMID:
11223190
12.

Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.

Trebble P, Matthews L, Blaikley J, Wayte AW, Black GC, Wilton A, Ray DW.

J Clin Endocrinol Metab. 2010 Dec;95(12):E490-9. doi: 10.1210/jc.2010-0705. Epub 2010 Sep 22.

13.

A somatic cell genetic method for identification of untargeted mutations in the glucocorticoid receptor that cause hormone binding deficiencies.

Lee S, Duncan KA, Chou H, Chen D, Kohli K, Huang CF, Stallcup MR.

Mol Endocrinol. 1995 Jul;9(7):826-37.

PMID:
7476966
14.

Glucocorticosteroid resistance in humans. Elucidation of the molecular mechanisms and implications for pathophysiology.

Stratakis CA, Karl M, Schulte HM, Chrousos GP.

Ann N Y Acad Sci. 1994 Nov 30;746:362-74; discussion 374-6. Review.

PMID:
7825890
16.

[Primary glucocorticoid resistance syndrome presenting as pseudo-precocious puberty and galactorrhea].

Xiang SL, He LP, Ran XW, Tian HM, Li XJ, Liang JZ.

Sichuan Da Xue Xue Bao Yi Xue Ban. 2008 Sep;39(5):861-4. Chinese.

PMID:
19024330
17.

Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.

Donner KM, Hiltunen TP, Jänne OA, Sane T, Kontula K.

Eur J Endocrinol. 2012 Dec 10;168(1):K9-K18. doi: 10.1530/EJE-12-0532. Print 2013 Jan.

18.

Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene.

Huizenga NA, de Lange P, Koper JW, de Herder WW, Abs R, Kasteren JH, de Jong FH, Lamberts SW.

J Clin Endocrinol Metab. 2000 May;85(5):2076-81.

PMID:
10843199
20.

A novel mutation of the hGR gene causing Chrousos syndrome.

Nicolaides NC, Geer EB, Vlachakis D, Roberts ML, Psarra AM, Moutsatsou P, Sertedaki A, Kossida S, Charmandari E.

Eur J Clin Invest. 2015 Aug;45(8):782-91. doi: 10.1111/eci.12470. Epub 2015 Jul 14.

PMID:
26031419

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