321 related articles for article (PubMed ID: 8316254)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM; Ricketts ML; Tardy V; Desrochers M; Mébarki F; Chaussain JL; Cabrol S; Raux-Demay MC; Forest MG; Sippell WG; Peter M; Morel Y; Simard J
J Clin Endocrinol Metab; 1999 Dec; 84(12):4410-25. PubMed ID: 10599696
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
Alos N; Moisan AM; Ward L; Desrochers M; Legault L; Leboeuf G; Van Vliet G; Simard J
J Clin Endocrinol Metab; 2000 May; 85(5):1968-74. PubMed ID: 10843183
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Structure-function relationships and molecular genetics of the 3 beta-hydroxysteroid dehydrogenase gene family.
Simard J; Sanchez R; Durocher F; Rhéaume E; Turgeon C; Labrie Y; Luu-The V; Mebarki F; Morel Y; de Launoit Y
J Steroid Biochem Mol Biol; 1995 Dec; 55(5-6):489-505. PubMed ID: 8547174
[TBL] [Abstract][Full Text] [Related]
17. Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.
Rhéaume E; Sanchez R; Mébarki F; Gagnon E; Carel JC; Chaussain JL; Morel Y; Labrie F; Simard J
Biochemistry; 1995 Mar; 34(9):2893-900. PubMed ID: 7893703
[TBL] [Abstract][Full Text] [Related]
18. Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.
Zhang L; Mason JI; Naiki Y; Copeland KC; Castro-Magana M; Gordon-Walker TT; Chang YT; Pang S
J Clin Endocrinol Metab; 2000 Apr; 85(4):1678-85. PubMed ID: 10770215
[TBL] [Abstract][Full Text] [Related]
19. Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.
Lutfallah C; Wang W; Mason JI; Chang YT; Haider A; Rich B; Castro-Magana M; Copeland KC; David R; Pang S
J Clin Endocrinol Metab; 2002 Jun; 87(6):2611-22. PubMed ID: 12050224
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
