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Journal Abstract Search

173 related items for PubMed ID: 1363812

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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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 Nov; 12(2):139. PubMed ID: 10694926
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