These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. 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; 65(11):1139-1146. PubMed ID: 30158362 [TBL] [Abstract][Full Text] [Related]
7. 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; 37(8):794-803. PubMed ID: 27120390 [TBL] [Abstract][Full Text] [Related]
8. Further characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance. Ruiz M; Hedman E; Gåfvels M; Eggertsen G; Werner S; Wahrenberg H; Wikström AC Scand J Clin Lab Invest; 2013 Apr; 73(3):203-7. PubMed ID: 23391271 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11932321 [TBL] [Abstract][Full Text] [Related]
10. 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; 190(4):284-295. PubMed ID: 38584335 [TBL] [Abstract][Full Text] [Related]
11. Chrousos syndrome: from molecular pathogenesis to therapeutic management. Nicolaides NC; Charmandari E Eur J Clin Invest; 2015 May; 45(5):504-14. PubMed ID: 25715669 [TBL] [Abstract][Full Text] [Related]
12. A NOVEL GLUCOCORTICOID RECEPTOR MUTATION IN PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE DISEASE. Ma L; Tan X; Li J; Long Y; Xiao Z; De J; Ren Y; Tian H; Chen T Endocr Pract; 2020 Jun; 26(6):651-659. PubMed ID: 32045292 [No Abstract] [Full Text] [Related]
13. 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. PubMed ID: 8445027 [TBL] [Abstract][Full Text] [Related]
14. 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; 37(7):1475-1481. PubMed ID: 31145715 [TBL] [Abstract][Full Text] [Related]
15. Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Bray PJ; Cotton RG Hum Mutat; 2003 Jun; 21(6):557-68. PubMed ID: 12754700 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 11589680 [TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 24483153 [TBL] [Abstract][Full Text] [Related]
19. 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; 24(4):473-485. PubMed ID: 32607951 [TBL] [Abstract][Full Text] [Related]