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115 related items for PubMed ID: 2783935

  • 1. 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]

  • 2. 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]

  • 3. Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.
    Morel Y, André J, Uring-Lambert B, Hauptmann G, Bétuel H, Tossi M, Forest MG, David M, Bertrand J, Miller WL.
    J Clin Invest; 1989 Feb; 83(2):527-36. PubMed ID: 2913051
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Lee PA, Rosenwaks Z, Urban MD, Migeon CJ, Bias WD.
    J Clin Endocrinol Metab; 1982 Nov; 55(5):866-71. PubMed ID: 6288754
    [Abstract] [Full Text] [Related]

  • 6. Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.
    Kohn B, Levine LS, Pollack MS, Pang S, Lorenzen F, Levy D, Lerner AJ, Rondanini GF, Dupont B, New MI.
    J Clin Endocrinol Metab; 1982 Nov; 55(5):817-27. PubMed ID: 6288753
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
    Levine LS, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield S, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumello G, Rondanini GF, Gargantini L, Giovannelli G, Virdis R, Bartolotta E, Migliori C, Pintor C, Tato L, Barboni F, New MI.
    J Clin Endocrinol Metab; 1980 Dec; 51(6):1316-24. PubMed ID: 6449518
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. DNA and RNA analysis of cytochrome P-450 21-hydroxylase: transcriptional activity in congenital adrenal hyperplasia.
    al-Othman AN, Docherty K, Makgoba MW, Sheppard MC, London DR.
    J Mol Endocrinol; 1988 Nov; 1(3):157-64. PubMed ID: 2475127
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe.
    Killeen AA, Seelig S, Ulstrom RA, Orr HT.
    Am J Med Genet; 1988 Mar; 29(3):703-12. PubMed ID: 2897792
    [Abstract] [Full Text] [Related]

  • 13. 21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
    Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T.
    J Med Genet; 1989 Jan; 26(1):10-7. PubMed ID: 2783976
    [Abstract] [Full Text] [Related]

  • 14. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
    Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI.
    J Clin Endocrinol Metab; 1985 Jul; 61(1):89-97. PubMed ID: 3873469
    [Abstract] [Full Text] [Related]

  • 15. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
    Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, Ward K.
    Prenat Diagn; 2002 Dec; 22(13):1171-6. PubMed ID: 12478627
    [Abstract] [Full Text] [Related]

  • 16. Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.
    Ghanem N, Lobaccaro JM, Buresi C, Abbal M, Halaby G, Sultan C, Lefranc G.
    Hum Genet; 1990 Dec; 86(2):117-25. PubMed ID: 1979956
    [Abstract] [Full Text] [Related]

  • 17. Combined 21- and 11 beta-hydroxylase deficiency in familial congenital adrenal hyperplasia.
    Hurwitz A, Brautbar C, Milwidsky A, Vecsei P, Milewicz A, Navot D, Rösler A.
    J Clin Endocrinol Metab; 1985 Apr; 60(4):631-8. PubMed ID: 2982904
    [Abstract] [Full Text] [Related]

  • 18. 21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.
    Haglund-Stengler B, Ritzén EM, Luthman H.
    J Clin Endocrinol Metab; 1990 Jan; 70(1):43-8. PubMed ID: 2152933
    [Abstract] [Full Text] [Related]

  • 19. [Molecular genetic study of 21-hydroxylase deficiency gene conversion as a molecular mechanism of monogenic disorder].
    Harada F.
    Fukuoka Igaku Zasshi; 1987 Feb; 78(2):55-66. PubMed ID: 3495477
    [No Abstract] [Full Text] [Related]

  • 20. 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]

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