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Journal Abstract Search

777 related items for PubMed ID: 10857554

  • 1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    White PC, Speiser PW.
    Endocr Rev; 2000 Jun; 21(3):245-91. PubMed ID: 10857554
    [Abstract] [Full Text] [Related]

  • 2. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Forest MG.
    Hum Reprod Update; 2004 Jun; 10(6):469-85. PubMed ID: 15514016
    [Abstract] [Full Text] [Related]

  • 3. Mutations in steroid 21-hydroxylase (CYP21).
    White PC, Tusie-Luna MT, New MI, Speiser PW.
    Hum Mutat; 1994 Jun; 3(4):373-8. PubMed ID: 8081391
    [Abstract] [Full Text] [Related]

  • 4. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
    White PC, Bachega TA.
    Semin Reprod Med; 2012 Oct; 30(5):400-9. PubMed ID: 23044877
    [Abstract] [Full Text] [Related]

  • 5. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
    Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P.
    Iran Biomed J; 2008 Jan; 12(1):49-53. PubMed ID: 18392095
    [Abstract] [Full Text] [Related]

  • 6. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
    Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI.
    J Steroid Biochem Mol Biol; 1999 Jan; 69(1-6):19-29. PubMed ID: 10418977
    [Abstract] [Full Text] [Related]

  • 7. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
    New MI.
    Am J Med; 1995 Jan 16; 98(1A):2S-8S. PubMed ID: 7825636
    [Abstract] [Full Text] [Related]

  • 8. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
    Tusié-Luna MT, White PC.
    Proc Natl Acad Sci U S A; 1995 Nov 07; 92(23):10796-800. PubMed ID: 7479886
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  • 10. Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
    Day DJ, Speiser PW, White PC, Barany F.
    Genomics; 1995 Sep 01; 29(1):152-62. PubMed ID: 8530065
    [Abstract] [Full Text] [Related]

  • 11. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
    Nunez BS, Lobato MN, White PC, Meseguer A.
    Biochem Biophys Res Commun; 1999 Sep 07; 262(3):635-7. PubMed ID: 10471376
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  • 14. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
    Speiser PW.
    Am J Pharmacogenomics; 2001 Sep 07; 1(2):101-10. PubMed ID: 12174671
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  • 16. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
    Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC.
    Mol Endocrinol; 1992 Aug 07; 6(8):1318-22. PubMed ID: 1406709
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  • 19. An update of congenital adrenal hyperplasia.
    New MI.
    Ann N Y Acad Sci; 2004 Dec 07; 1038():14-43. PubMed ID: 15838095
    [Abstract] [Full Text] [Related]

  • 20. Sonography in prenatal diagnosis of congenital adrenal hyperplasia.
    Saada J, Grebille AG, Aubry MC, Rafii A, Dumez Y, Benachi A.
    Prenat Diagn; 2004 Aug 07; 24(8):627-30. PubMed ID: 15305351
    [Abstract] [Full Text] [Related]

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