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Journal Abstract Search

209 related items for PubMed ID: 8070426

  • 1. Disorders of steroid 17 alpha-hydroxylase deficiency.
    Kater CE, Biglieri EG.
    Endocrinol Metab Clin North Am; 1994 Jun; 23(2):341-57. PubMed ID: 8070426
    [Abstract] [Full Text] [Related]

  • 2. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
    Guenego A, Morel Y, Ionesco O, Mallet D, Priou-Guesdon M.
    Ann Endocrinol (Paris); 2015 Feb; 76(1):71-4. PubMed ID: 25613935
    [Abstract] [Full Text] [Related]

  • 3. Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.
    Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C.
    N Engl J Med; 1985 Nov 07; 313(19):1182-91. PubMed ID: 2932643
    [Abstract] [Full Text] [Related]

  • 4. 17 alpha-Hydroxylase/17,20-lyase defects.
    Yanase T.
    J Steroid Biochem Mol Biol; 1995 Jun 07; 53(1-6):153-7. PubMed ID: 7626447
    [Abstract] [Full Text] [Related]

  • 5. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K.
    J Steroid Biochem Mol Biol; 2005 Nov 07; 97(3):257-65. PubMed ID: 16176874
    [Abstract] [Full Text] [Related]

  • 6. Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.
    Winter JS, Couch RM, Muller J, Perry YS, Ferreira P, Baydala L, Shackleton CH.
    J Clin Endocrinol Metab; 1989 Feb 07; 68(2):309-16. PubMed ID: 2493025
    [Abstract] [Full Text] [Related]

  • 7. Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension.
    Hermans C, de Plaen JF, de Nayer P, Maiter D.
    Am J Med Sci; 1996 Sep 07; 312(3):126-9. PubMed ID: 8783679
    [Abstract] [Full Text] [Related]

  • 8. Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.
    Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR.
    Mol Endocrinol; 1988 Jun 07; 2(6):564-70. PubMed ID: 2843762
    [Abstract] [Full Text] [Related]

  • 9. [Congenital adrenal hyperplasia].
    Stanić M, Nesović M.
    Med Pregl; 1999 Jun 07; 52(11-12):447-54. PubMed ID: 10748766
    [Abstract] [Full Text] [Related]

  • 10. Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
    Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR.
    Mol Endocrinol; 1991 Dec 07; 5(12):2037-45. PubMed ID: 1665206
    [Abstract] [Full Text] [Related]

  • 11. Seventeen alpha-hydroxylase deficiency.
    Wong SL, Shu SG, Tsai CR.
    J Formos Med Assoc; 2006 Feb 07; 105(2):177-81. PubMed ID: 16477341
    [Abstract] [Full Text] [Related]

  • 12. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.
    Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR.
    J Clin Endocrinol Metab; 1990 May 07; 70(5):1325-9. PubMed ID: 2335573
    [Abstract] [Full Text] [Related]

  • 13. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.
    Yanase T, Simpson ER, Waterman MR.
    Endocr Rev; 1991 Feb 07; 12(1):91-108. PubMed ID: 2026124
    [No Abstract] [Full Text] [Related]

  • 14. Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
    Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS.
    Hum Genet; 1989 Jun 07; 82(3):285-6. PubMed ID: 2786493
    [Abstract] [Full Text] [Related]

  • 15. Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR.
    J Clin Endocrinol Metab; 1992 Mar 07; 74(3):667-72. PubMed ID: 1740503
    [Abstract] [Full Text] [Related]

  • 16. Disorders of steroid 11 beta-hydroxylase isozymes.
    White PC, Curnow KM, Pascoe L.
    Endocr Rev; 1994 Aug 07; 15(4):421-38. PubMed ID: 7988480
    [Abstract] [Full Text] [Related]

  • 17. Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.
    Rumsby G, Skinner C, Lee HA, Honour JW.
    Clin Endocrinol (Oxf); 1993 Oct 07; 39(4):483-5. PubMed ID: 8287576
    [Abstract] [Full Text] [Related]

  • 18. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
    Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB.
    J Clin Endocrinol Metab; 2003 Dec 07; 88(12):5739-46. PubMed ID: 14671162
    [Abstract] [Full Text] [Related]

  • 19. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.
    Takeda Y, Yoneda T, Demura M, Furukawa K, Koshida H, Miyamori I, Mabuchi H.
    Clin Endocrinol (Oxf); 2001 Jun 07; 54(6):751-8. PubMed ID: 11422109
    [Abstract] [Full Text] [Related]

  • 20. Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
    Laflamme N, Leblanc JF, Mailloux J, Faure N, Labrie F, Simard J.
    J Clin Endocrinol Metab; 1996 Jan 07; 81(1):264-8. PubMed ID: 8550762
    [Abstract] [Full Text] [Related]

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