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188 related items for PubMed ID: 30158362

  • 1. Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.
    Al Argan R, Saskin A, Yang JW, D'Agostino MD, Rivera J.
    Endocr J; 2018 Nov 29; 65(11):1139-1146. PubMed ID: 30158362
    [Abstract] [Full Text] [Related]

  • 2. Chrousos syndrome: from molecular pathogenesis to therapeutic management.
    Nicolaides NC, Charmandari E.
    Eur J Clin Invest; 2015 May 29; 45(5):504-14. PubMed ID: 25715669
    [Abstract] [Full Text] [Related]

  • 3. A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.
    Paragliola RM, Costella A, Corsello A, Urbani A, Concolino P.
    Mol Diagn Ther; 2020 Aug 29; 24(4):473-485. PubMed ID: 32607951
    [Abstract] [Full Text] [Related]

  • 4. PRKAR1A-negative familial Cushing's syndrome: two case reports.
    Lim LL, Kitan N, Paramasivam SS, Ratnasingam J, Ibrahim L, Chan SP, Tan AT, Vethakkan SR.
    J Med Case Rep; 2015 Dec 01; 9():277. PubMed ID: 26619967
    [Abstract] [Full Text] [Related]

  • 5. An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.
    Molnár Á, Patócs A, Likó I, Nyírő G, Rácz K, Tóth M, Sármán B.
    BMC Med Genet; 2018 Mar 06; 19(1):37. PubMed ID: 29510671
    [Abstract] [Full Text] [Related]

  • 6. Pathophysiology of Glucocorticoid Signaling.
    Vitellius G, Trabado S, Bouligand J, Delemer B, Lombès M.
    Ann Endocrinol (Paris); 2018 Jun 06; 79(3):98-106. PubMed ID: 29685454
    [Abstract] [Full Text] [Related]

  • 7. 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; 2013 Jan 06; 168(1):K9-K18. PubMed ID: 23076843
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 45(8):782-91. PubMed ID: 26031419
    [Abstract] [Full Text] [Related]

  • 9. Case Report: Consecutive Adrenal Cushing's Syndrome and Cushing's Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations.
    Detomas M, Altieri B, Schlötelburg W, Appenzeller S, Schlaffer S, Coras R, Schirbel A, Wild V, Kroiss M, Sbiera S, Fassnacht M, Deutschbein T.
    Front Endocrinol (Lausanne); 2021 Aug 06; 12():731579. PubMed ID: 34489873
    [Abstract] [Full Text] [Related]

  • 10. Glucocorticoid Resistance.
    Nicolaides NC, Charmandari E.
    Exp Suppl; 2019 Aug 06; 111():85-102. PubMed ID: 31588529
    [Abstract] [Full Text] [Related]

  • 11. Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
    Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA.
    J Pediatr Endocrinol Metab; 2012 Aug 06; 25(1-2):213-9. PubMed ID: 22570980
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.
    Laulhé M, Kuhn E, Bouligand J, Amazit L, Perrot J, Lebigot E, Kamenickỷ P, Lombès M, Fagart J, Viengchareun S, Martinerie L.
    Eur J Endocrinol; 2024 Mar 30; 190(4):284-295. PubMed ID: 38584335
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.
    Tatsi C, Xekouki P, Nioti O, Bachrach B, Belyavskaya E, Lyssikatos C, Stratakis CA.
    J Hypertens; 2019 Jul 30; 37(7):1475-1481. PubMed ID: 31145715
    [Abstract] [Full Text] [Related]

  • 14. Bilateral adrenocortical adenomas causing ACTH-independent Cushing's syndrome at different periods: a case report and discussion of corticosteroid replacement therapy following bilateral adrenalectomy.
    Tung SC, Wang PW, Huang TL, Lee WC, Chen WJ.
    J Endocrinol Invest; 2004 Apr 30; 27(4):375-9. PubMed ID: 15233560
    [Abstract] [Full Text] [Related]

  • 15. Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
    Vitellius G, Fagart J, Delemer B, Amazit L, Ramos N, Bouligand J, Le Billan F, Castinetti F, Guiochon-Mantel A, Trabado S, Lombès M.
    Hum Mutat; 2016 Aug 30; 37(8):794-803. PubMed ID: 27120390
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  • 19. [Primary Generalized Glucocorticoid Resistance: a case report].
    Larina II, Makazan NV, Ivashchenko KV, Platonova NM, Orlova EM, Kareva MA, Sozaeva LS, Yukina MY, Tulpakov AN, Dukhanin AS, Shimanovskii NL, Troshina EA.
    Probl Endokrinol (Mosk); 2024 Feb 28; 70(1):30-37. PubMed ID: 38433539
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