BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

301 related articles for article (PubMed ID: 7608265)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 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. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues.
    Labrie F; Simard J; Luu-The V; Bélanger A; Pelletier G
    J Steroid Biochem Mol Biol; 1992 Dec; 43(8):805-26. PubMed ID: 22217825
    [TBL] [Abstract][Full Text] [Related]  

  • 17. No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency.
    Zerah M; Rhéaume E; Mani P; Schram P; Simard J; Labrie F; New MI
    J Clin Endocrinol Metab; 1994 Dec; 79(6):1811-7. PubMed ID: 7989489
    [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. Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads.
    Rhéaume E; Lachance Y; Zhao HF; Breton N; Dumont M; de Launoit Y; Trudel C; Luu-The V; Simard J; Labrie F
    Mol Endocrinol; 1991 Aug; 5(8):1147-57. PubMed ID: 1944309
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.