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Journal Abstract Search

297 related items for 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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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. 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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  • 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
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  • 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
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  • 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
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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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  • 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
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  • 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
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