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27. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Clark AJ; McLoughlin L; Grossman A Lancet; 1993 Feb; 341(8843):461-2. PubMed ID: 8094489 [TBL] [Abstract][Full Text] [Related]
28. The genetics of ACTH resistance syndromes. Metherell LA; Chan LF; Clark AJ Best Pract Res Clin Endocrinol Metab; 2006 Dec; 20(4):547-60. PubMed ID: 17161331 [TBL] [Abstract][Full Text] [Related]
29. 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. PubMed ID: 19903795 [TBL] [Abstract][Full Text] [Related]
30. An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). Turan S; Hughes C; Atay Z; Guran T; Haliloglu B; Clark AJ; Bereket A; Metherell LA J Clin Endocrinol Metab; 2012 May; 97(5):E771-4. PubMed ID: 22337906 [TBL] [Abstract][Full Text] [Related]
31. ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Slavotinek AM; Hurst JA; Dunger D; Wilkie AO Clin Genet; 1998 Jan; 53(1):57-62. PubMed ID: 9550364 [TBL] [Abstract][Full Text] [Related]
32. Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Hirsch A; Meimaridou E; Fernandez-Cancio M; Pandey AV; Clemente M; Audi L; Clark AJ; Flück CE J Clin Endocrinol Metab; 2011 Jan; 96(1):E65-72. PubMed ID: 20962024 [TBL] [Abstract][Full Text] [Related]
33. Familial glucocorticoid deficiency: one syndrome, but more than one gene. Clark AJ; Cammas FM; Watt A; Kapas S; Weber A J Mol Med (Berl); 1997 Jun; 75(6):394-9. PubMed ID: 9231879 [TBL] [Abstract][Full Text] [Related]
34. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency. Özbek MN; Demiral M; Unal E; Karaşin ND; Baran RT; Demirbilek H J Pediatr Endocrinol Metab; 2021 Nov; 34(11):1463-1468. PubMed ID: 34271604 [TBL] [Abstract][Full Text] [Related]
35. ACTH resistance: genes and mechanisms. Meimaridou E; Hughes CR; Kowalczyk J; Chan LF; Clark AJ; Metherell LA Endocr Dev; 2013; 24():57-66. PubMed ID: 23392095 [TBL] [Abstract][Full Text] [Related]
36. 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. PubMed ID: 18426811 [TBL] [Abstract][Full Text] [Related]
37. [Myocardiopathy and isolated glucocorticoid deficit with ACTH resistance: a fortuitous association?]. Vigneron P; Cabrol S; Tillous-Borde I; Tahraoui L; Bégué P; Costil J; Begeot M; Baudon JJ Arch Pediatr; 1999 Mar; 6(3):283-5. PubMed ID: 10191895 [TBL] [Abstract][Full Text] [Related]
38. [ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency]. Fukata J; Li CL; Saibara T; Onishi S Nihon Rinsho; 1998 Jul; 56(7):1836-42. PubMed ID: 9702062 [TBL] [Abstract][Full Text] [Related]
39. Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. Weber A; Clark AJ; Perry LA; Honour JW; Savage MO Clin Endocrinol (Oxf); 1997 Apr; 46(4):431-7. PubMed ID: 9196605 [TBL] [Abstract][Full Text] [Related]
40. ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH. Ding YX; Zou LP; He B; Yue WH; Liu ZL; Zhang D Pharmacogenet Genomics; 2010 Feb; 20(2):71-6. PubMed ID: 20042918 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]