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Journal Abstract Search

225 related items for PubMed ID: 1406709

  • 21.
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  • 23. CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
    Koppens PF, Hoogenboezem T, Degenhart HJ.
    Eur J Hum Genet; 2000 Nov; 8(11):827-36. PubMed ID: 11093272
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  • 24. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    White PC, Speiser PW.
    Endocr Rev; 2000 Jun; 21(3):245-91. PubMed ID: 10857554
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  • 27. Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
    Lee HH, Niu DM, Lin RW, Chan P, Lin CY.
    J Hum Genet; 2002 Jun; 47(10):517-22. PubMed ID: 12376740
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  • 28. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
    Mornet E, Crété P, Kuttenn F, Raux-Demay MC, Boué J, White PC, Boué A.
    Am J Hum Genet; 1991 Jan; 48(1):79-88. PubMed ID: 1985465
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  • 29. A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.
    Collier S, Tassabehji M, Sinnott P, Strachan T.
    Nat Genet; 1993 Mar; 3(3):260-5. PubMed ID: 8485582
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  • 30.
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  • 31. 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
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  • 32.
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  • 33. Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.
    Donohoue PA, Sandrini Neto R, Collins MM, Migeon CJ.
    Mol Endocrinol; 1990 Sep; 4(9):1354-62. PubMed ID: 1978247
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  • 34. [Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency].
    Dardis A, Marino R, Bergadá I, Escobar ME, Gryngarten M, Rivarola MA, Belgorosky A.
    Medicina (B Aires); 2001 Sep; 61(1):28-34. PubMed ID: 11265620
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  • 35. 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
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  • 36. CYP21 mutations and congenital adrenal hyperplasia.
    Lee HH.
    Clin Genet; 2001 May; 59(5):293-301. PubMed ID: 11359457
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  • 37. Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
    Baumgartner-Parzer SM, Schulze E, Waldhäusl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F, Vierhapper H.
    J Clin Endocrinol Metab; 2001 Oct; 86(10):4771-5. PubMed ID: 11600539
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  • 38. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
    Wedell A.
    Clin Lab Med; 1996 Mar; 16(1):125-37. PubMed ID: 8867587
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  • 39. Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG.
    J Clin Endocrinol Metab; 2005 Jan; 90(1):445-54. PubMed ID: 15483094
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  • 40. Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype.
    Chu X, Braun-Heimer L, Rittner C, Schneider PM.
    Exp Clin Immunogenet; 1992 Jan; 9(2):80-5. PubMed ID: 1489553
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