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Journal Abstract Search

131 related items for PubMed ID: 15943551

  • 1. The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.
    Mao R, McDonald J, Cantwell M, Tang W, Ward K.
    Genet Test; 2005; 9(2):121-5. PubMed ID: 15943551
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
    Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR.
    Horm Res; 2005 Sep; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 5. Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
    Manfras BJ, Swinyard M, Rudert WA, Ball EJ, Lee PA, Kühnl P, Trucco M, Böhm BO.
    Hum Genet; 1993 Aug; 92(1):33-9. PubMed ID: 8365724
    [Abstract] [Full Text] [Related]

  • 6. CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
    Witchel SF, Smith R, Crivellaro CE, Della Manna T, Dichtchekenian V, Setian N, Damiani D.
    Hum Genet; 2000 Apr; 106(4):414-9. PubMed ID: 10830908
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  • 7. Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
    Jiddou RR, Wei WL, Sane KS, Killeen AA.
    Clin Chem; 1999 May; 45(5):625-9. PubMed ID: 10222348
    [Abstract] [Full Text] [Related]

  • 8. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
    Owerbach D, Ballard AL, Draznin MB.
    J Clin Endocrinol Metab; 1992 Mar; 74(3):553-8. PubMed ID: 1740489
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  • 11. Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
    Killeen AA, Jiddou RR, Sane KS.
    Clin Chem; 1998 Dec; 44(12):2410-5. PubMed ID: 9836705
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  • 12. Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
    Owerbach D, Draznin MB, Carpenter RJ, Greenberg F.
    Hum Genet; 1992 Apr; 89(1):109-10. PubMed ID: 1349559
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  • 13. 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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  • 16. Congenital adrenal hyperplasia. Molecular characterization.
    Ko TM, Kao CH, Ho HN, Tseng LH, Hwa HL, Hsu PM, Chuang SM, Lee TY.
    J Reprod Med; 1998 Apr; 43(4):379-86. PubMed ID: 9583072
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  • 17. Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.
    Speiser PW, White PC, Dupont J, Zhu D, Mercado A, New MI.
    Recent Prog Horm Res; 1994 Apr; 49():367-71. PubMed ID: 8146433
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  • 18. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
    Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.
    Eur J Endocrinol; 2005 Jul; 153(1):99-106. PubMed ID: 15994751
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  • 19. [Technique of PCR-ACRS for the detection of CYP21 gene mutations].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):449-51. PubMed ID: 14556206
    [Abstract] [Full Text] [Related]

  • 20. Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
    Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA.
    J Clin Endocrinol Metab; 2002 Sep; 87(9):4314-7. PubMed ID: 12213891
    [Abstract] [Full Text] [Related]

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