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305 related items for PubMed ID: 6334310

  • 1. HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
    White PC, New MI, Dupont B.
    Proc Natl Acad Sci U S A; 1984 Dec; 81(23):7505-9. PubMed ID: 6334310
    [Abstract] [Full Text] [Related]

  • 2. Molecular cloning of steroid 21-hydroxylase.
    White PC, Dupont B, New MI.
    Endocr Res; 1984 Dec; 10(3-4):335-45. PubMed ID: 6336060
    [Abstract] [Full Text] [Related]

  • 3. Steroid 21-hydroxylase deficiency and the major histocompatibility complex.
    White PC, Werkmeister J, New MI, Dupont B.
    Hum Immunol; 1986 Apr; 15(4):404-15. PubMed ID: 3009365
    [Abstract] [Full Text] [Related]

  • 4. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.
    White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL.
    Proc Natl Acad Sci U S A; 1985 Feb; 82(4):1089-93. PubMed ID: 2983330
    [Abstract] [Full Text] [Related]

  • 5. Adrenal 21-hydroxylase cytochrome P-450 genes within the MHC class III region.
    White PC, New MI, Dupont B.
    Immunol Rev; 1985 Oct; 87():123-50. PubMed ID: 3902620
    [Abstract] [Full Text] [Related]

  • 6. Frequent deletion and duplication of the steroid 21-hydroxylase genes.
    Werkmeister JW, New MI, Dupont B, White PC.
    Am J Hum Genet; 1986 Oct; 39(4):461-9. PubMed ID: 3490178
    [Abstract] [Full Text] [Related]

  • 7. Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.
    Donohoue PA, van Dop C, McLean RH, White PC, Jospe N, Migeon CJ.
    J Clin Endocrinol Metab; 1986 May; 62(5):995-1002. PubMed ID: 3007562
    [Abstract] [Full Text] [Related]

  • 8. Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
    Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J, Sasazuki T.
    Proc Natl Acad Sci U S A; 1987 Nov; 84(22):8091-4. PubMed ID: 3500473
    [Abstract] [Full Text] [Related]

  • 9. Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish.
    Donohoue PA, Van Dop C, Migeon CJ, McLean RH, Bias WB.
    J Clin Endocrinol Metab; 1987 Nov; 65(5):980-6. PubMed ID: 2822757
    [Abstract] [Full Text] [Related]

  • 10. Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Layrisse Z, White C, Gunczler P, Gafaro Valera L, Arias S, Yunis EJ, Alper CA, Awdeh ZL.
    Immunogenetics; 1987 Nov; 25(2):99-103. PubMed ID: 3493216
    [Abstract] [Full Text] [Related]

  • 11. Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency.
    Nakura J, Miki T, Fukuchi K, Shimizu K, Nose O, Takai S, White PC, Honjo T, Kumahara Y.
    Endocrinol Jpn; 1987 Jun; 34(3):373-9. PubMed ID: 3498630
    [Abstract] [Full Text] [Related]

  • 12. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
    White PC, Vitek A, Dupont B, New MI.
    Proc Natl Acad Sci U S A; 1988 Jun; 85(12):4436-40. PubMed ID: 3260033
    [Abstract] [Full Text] [Related]

  • 13. Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency.
    Mornet E, Couillin P, Kutten F, Raux MC, White PC, Cohen D, Boué A, Dausset J.
    Hum Genet; 1986 Dec; 74(4):402-8. PubMed ID: 2878869
    [Abstract] [Full Text] [Related]

  • 14. P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.
    Matteson KJ, Phillips JA, Miller WL, Chung BC, Orlando PJ, Frisch H, Ferrandez A, Burr IM.
    Proc Natl Acad Sci U S A; 1987 Aug; 84(16):5858-62. PubMed ID: 3497399
    [Abstract] [Full Text] [Related]

  • 15. Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency.
    Matsumoto T, Kondoh T, Kamei T, Yoshimoto M, Tsuji Y, Suzumori K, Izumi R, Iwatani N, Niikawa N.
    Eur J Pediatr; 1988 Dec; 148(3):228-32. PubMed ID: 2905656
    [Abstract] [Full Text] [Related]

  • 16. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.
    Sinnott P, Collier S, Costigan C, Dyer PA, Harris R, Strachan T.
    Proc Natl Acad Sci U S A; 1990 Mar; 87(6):2107-11. PubMed ID: 2315306
    [Abstract] [Full Text] [Related]

  • 17. Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types.
    Morel Y, David M, Forest MG, Betuel H, Hauptman G, Andre J, Bertrand J, Miller WL.
    J Clin Endocrinol Metab; 1989 Mar; 68(3):592-9. PubMed ID: 2783935
    [Abstract] [Full Text] [Related]

  • 18. Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
    Strumberg D, Hauffa BP, Horsthemke B, Grosse-Wilde H.
    Eur J Pediatr; 1992 Nov; 151(11):821-6. PubMed ID: 1361434
    [Abstract] [Full Text] [Related]

  • 19. [Genetic of the 21 hydroxylase deficiency].
    Boué A, Couillin P, Pomarède R, Rappaport R, Boué J.
    Ann Endocrinol (Paris); 1982 Nov; 43(1):3-14. PubMed ID: 6982657
    [Abstract] [Full Text] [Related]

  • 20. Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency.
    Zemmour J, Ennis PD, Parham P, Dupont B.
    Immunogenetics; 1988 Nov; 27(4):281-7. PubMed ID: 3257938
    [Abstract] [Full Text] [Related]

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