172 related articles for article (PubMed ID: 1363812)
1. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.
Rhéaume E; Simard J; Morel Y; Mebarki F; Zachmann M; Forest MG; New MI; Labrie F
Nat Genet; 1992 Jul; 1(4):239-45. PubMed ID: 1363812
[TBL] [Abstract][Full Text] [Related]
2. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Simard J; Moisan AM; Morel Y
Semin Reprod Med; 2002 Aug; 20(3):255-76. PubMed ID: 12428206
[TBL] [Abstract][Full Text] [Related]
3. Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Simard J; Rhéaume E; Sanchez R; Laflamme N; de Launoit Y; Luu-The V; van Seters AP; Gordon RD; Bettendorf M; Heinrich U
Mol Endocrinol; 1993 May; 7(5):716-28. PubMed ID: 8316254
[TBL] [Abstract][Full Text] [Related]
4. Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.
Chang YT; Kappy MS; Iwamoto K; Wang J; Yang X; Pang S
Pediatr Res; 1993 Nov; 34(5):698-700. PubMed ID: 8284113
[TBL] [Abstract][Full Text] [Related]
5. Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency.
Sanchez R; Rhéaume E; Laflamme N; Rosenfield RL; Labrie F; Simard J
J Clin Endocrinol Metab; 1994 Mar; 78(3):561-7. PubMed ID: 8126127
[TBL] [Abstract][Full Text] [Related]
6. A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
Pang S; Wang W; Rich B; David R; Chang YT; Carbunaru G; Myers SE; Howie AF; Smillie KJ; Mason JI
J Clin Endocrinol Metab; 2002 Jun; 87(6):2556-63. PubMed ID: 12050213
[TBL] [Abstract][Full Text] [Related]
7. Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.
Mébarki F; Sanchez R; Rhéaume E; Laflamme N; Simard J; Forest MG; Bey-Omar F; David M; Labrie F; Morel Y
J Clin Endocrinol Metab; 1995 Jul; 80(7):2127-34. PubMed ID: 7608265
[TBL] [Abstract][Full Text] [Related]
8. Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.
Sanchez R; Mébarki F; Rhéaume E; Laflamme N; Forest MG; Bey-Omard F; David M; Morel Y; Labrie F; Simard J
Hum Mol Genet; 1994 Sep; 3(9):1639-45. PubMed ID: 7833923
[TBL] [Abstract][Full Text] [Related]
9. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
Zhang L; Sakkal-Alkaddour H; Chang YT; Yang X; Pang S
J Clin Endocrinol Metab; 1996 Jan; 81(1):291-5. PubMed ID: 8550766
[TBL] [Abstract][Full Text] [Related]
10. Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.
Rhéaume E; Sanchez R; Simard J; Chang YT; Wang J; Pang S; Labrie F
J Clin Endocrinol Metab; 1994 Oct; 79(4):1012-8. PubMed ID: 7962268
[TBL] [Abstract][Full Text] [Related]
11. Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity.
Chang YT; Zhang L; Alkaddour HS; Mason JI; Lin K; Yang X; Garibaldi LR; Bourdony CJ; Dolan LM; Donaldson DL
Pediatr Res; 1995 Jun; 37(6):820-4. PubMed ID: 7651769
[TBL] [Abstract][Full Text] [Related]
12. Human hypertension caused by mutations in the 11 beta-hydroxysteroid dehydrogenase gene: a molecular analysis of apparent mineralocorticoid excess.
Whorwood CB; Stewart PM
J Hypertens Suppl; 1996 Dec; 14(5):S19-24. PubMed ID: 9120678
[TBL] [Abstract][Full Text] [Related]
13. Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.
Russell AJ; Wallace AM; Forest MG; Donaldson MD; Edwards CR; Sutcliffe RG
J Mol Endocrinol; 1994 Apr; 12(2):225-37. PubMed ID: 8060486
[TBL] [Abstract][Full Text] [Related]
14. Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency.
Morel Y; Mébarki F; Rhéaume E; Sanchez R; Forest MG; Simard J
Steroids; 1997 Jan; 62(1):176-84. PubMed ID: 9029734
[TBL] [Abstract][Full Text] [Related]
15. Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity.
Lachance Y; Luu-The V; Verreault H; Dumont M; Rhéaume E; Leblanc G; Labrie F
DNA Cell Biol; 1991 Dec; 10(10):701-11. PubMed ID: 1741954
[TBL] [Abstract][Full Text] [Related]
16. Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
Welzel M; Wüstemann N; Simic-Schleicher G; Dörr HG; Schulze E; Shaikh G; Clayton P; Grötzinger J; Holterhus PM; Riepe FG
J Clin Endocrinol Metab; 2008 Apr; 93(4):1418-25. PubMed ID: 18252794
[TBL] [Abstract][Full Text] [Related]
17. Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency.
Simard J; Rheaume E; Mebarki F; Sanchez R; New MI; Morel Y; Labrie F
J Steroid Biochem Mol Biol; 1995 Jun; 53(1-6):127-38. PubMed ID: 7626445
[TBL] [Abstract][Full Text] [Related]
18. Studies of 3 beta-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels.
Sakkal-Alkaddour H; Zhang L; Yang X; Chang YT; Kappy M; Slover RS; Jorgensen V; Pang S
J Clin Endocrinol Metab; 1996 Nov; 81(11):3961-5. PubMed ID: 8923844
[TBL] [Abstract][Full Text] [Related]
19. The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3.
Bain PA; Meisler MH; Taylor BA; Payne AH
Genomics; 1993 Apr; 16(1):219-23. PubMed ID: 8486361
[TBL] [Abstract][Full Text] [Related]
20. A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online.
Marui S; Torrealba IM; Russell AJ; Latronico AC; Sutcliffe RG; Mendonca BB
Hum Mutat; 1998; 12(2):139. PubMed ID: 10694926
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
