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 *

153 related articles for article (PubMed ID: 9550364)

  • 1. 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]  

  • 2. [Familial glucocorticoid deficiency due to the ACTH receptor gene mutations].
    Katsumata N
    Nihon Rinsho; 2002 Feb; 60(2):260-4. PubMed ID: 11857911
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency.
    Imamine H; Mizuno H; Sugiyama Y; Ohro Y; Sugiura T; Togari H
    Tohoku J Exp Med; 2005 Feb; 205(2):123-31. PubMed ID: 15673970
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. [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]  

  • 9. 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]  

  • 10. Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency.
    Matsuura H; Shiohara M; Yamano M; Kurata K; Arai F; Koike K
    J Pediatr Endocrinol Metab; 2006 Sep; 19(9):1167-70. PubMed ID: 17128565
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Short stature in a patient with familial glucocorticoid deficiency.
    Mathew RP; Kovacs WJ
    J Pediatr Endocrinol Metab; 2011; 24(7-8):569-71. PubMed ID: 21932602
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients.
    Berberoğlu M; Aycan Z; Ocal G; Begeot M; Naville D; Akar N; Adiyaman P; Evliyaoglu O; Penhoat A
    J Pediatr Endocrinol Metab; 2001; 14(8):1113-8. PubMed ID: 11592568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations.
    al Kandari HM; Katsumata N; al Alwan I; al Balwi M; Rasoul MS
    Horm Res Paediatr; 2011; 76(3):165-71. PubMed ID: 21778684
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
    Chung TT; Chan LF; Metherell LA; Clark AJ
    Clin Endocrinol (Oxf); 2010 May; 72(5):589-94. PubMed ID: 19558534
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
    Rumié H; Metherell LA; Clark AJ; Beauloye V; Maes M
    Eur J Endocrinol; 2007 Oct; 157(4):539-42. PubMed ID: 17893271
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
    Chan LF; Metherell LA; Krude H; Ball C; O'Riordan SM; Costigan C; Lynch SA; Savage MO; Cavarzere P; Clark AJ
    Clin Endocrinol (Oxf); 2009 Aug; 71(2):171-5. PubMed ID: 19170705
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.