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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 8094489)

  • 1. 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]  

  • 2. Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.
    Naville D; Barjhoux L; Jaillard C; Faury D; Despert F; Esteva B; Durand P; Saez JM; Begeot M
    J Clin Endocrinol Metab; 1996 Apr; 81(4):1442-8. PubMed ID: 8636348
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome.
    Tsigos C; Arai K; Latronico AC; DiGeorge AM; Rapaport R; Chrousos GP
    J Clin Endocrinol Metab; 1995 Jul; 80(7):2186-9. PubMed ID: 7608277
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.
    Tsigos C; Arai K; Hung W; Chrousos GP
    J Clin Invest; 1993 Nov; 92(5):2458-61. PubMed ID: 8227361
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Adrenocorticotropin receptor in familial glucocorticoid deficiency].
    Takayanagi R; Sakai Y; Nawata H; Nishiyama S; Ito T; Kodama M; Matsuda I; Matsuda H
    Nihon Rinsho; 1993 Oct; 51(10):2643-8. PubMed ID: 8254933
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.
    Weber A; Toppari J; Harvey RD; Klann RC; Shaw NJ; Ricker AT; Näntö-Salonen K; Bevan JS; Clark AJ
    J Clin Endocrinol Metab; 1995 Jan; 80(1):65-71. PubMed ID: 7829641
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.
    Penhoat A; Naville D; El Mourabit H; Buronfosse A; Berberoglu M; Ocal G; Tsigos C; Durand P; Bégeot M
    J Mol Med (Berl); 2002 Jul; 80(7):406-11. PubMed ID: 12110946
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency.
    Weber A; Clark AJ
    Hum Mol Genet; 1994 Apr; 3(4):585-8. PubMed ID: 8069303
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ACTH resistance syndromes.
    Huebner A; Elias LL; Clark AJ
    J Pediatr Endocrinol Metab; 1999 Apr; 12 Suppl 1():277-93. PubMed ID: 10698592
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial glucocorticoid deficiency type 2 in two neonates.
    Ramachandran P; Penhoat A; Naville D; Begeot M; Osama Abdel-Wareth L; Reza Sedaghatian M
    J Perinatol; 2003 Jan; 23(1):62-6. PubMed ID: 12556930
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2).
    Naville D; Weber A; Genin E; Durand P; Clark AJ; Bégeot M
    J Clin Endocrinol Metab; 1998 Oct; 83(10):3592-6. PubMed ID: 9768670
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.
    Wu SM; Stratakis CA; Chan CH; Hallermeier KM; Bourdony CJ; Rennert OM; Chan WY
    Mol Genet Metab; 1998 Aug; 64(4):256-65. PubMed ID: 9758716
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
    Selva KA; LaFranchi SH; Boston B
    J Pediatr Endocrinol Metab; 2004 Jan; 17(1):85-92. PubMed ID: 14960026
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The molecular pathogenesis of ACTH insensitivity syndromes.
    Clark AJ; Metherell L; Swords FM; Elias LL
    Ann Endocrinol (Paris); 2001 Apr; 62(2):207-11. PubMed ID: 11353896
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency.
    Tsiotra PC; Koukourava A; Kaltezioti V; Geffner ME; Naville D; Begeot M; Raptis SA; Tsigos C
    J Pediatr Endocrinol Metab; 2006 Sep; 19(9):1157-66. PubMed ID: 17128564
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency.
    Tsigos C; Tsiotra P; Garibaldi LR; Stavridis JC; Chrousos GP; Raptis SA
    Mol Genet Metab; 2000 Dec; 71(4):646-50. PubMed ID: 11136558
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
    Tiosano D; Pannain S; Vassart G; Parma J; Gershoni-Baruch R; Mandel H; Lotan R; Zaharan Y; Pery M; Weiss RE; Refetoff S; Hochberg Z
    Thyroid; 1999 Sep; 9(9):887-94. PubMed ID: 10524567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
    Kim CJ; Woo YJ; Kim GH; Yoo HW
    J Korean Med Sci; 2009 Oct; 24(5):979-81. PubMed ID: 19795005
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.