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Journal Abstract Search

178 related items for PubMed ID: 21325254

  • 1. Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
    Jang JH, Jin DK, Kim JH, Tan HK, Kim JW, Lee SY, Ki CS, Park HD.
    Ann Clin Lab Sci; 2011; 41(1):44-7. PubMed ID: 21325254
    [Abstract] [Full Text] [Related]

  • 2. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 3. CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
    Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW.
    Ann Lab Med; 2015 Sep 10; 35(5):535-9. PubMed ID: 26206692
    [Abstract] [Full Text] [Related]

  • 4. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
    Concolino P, Mello E, Toscano V, Ameglio F, Zuppi C, Capoluongo E.
    Clin Chim Acta; 2009 Apr 10; 402(1-2):164-70. PubMed ID: 19263525
    [Abstract] [Full Text] [Related]

  • 5. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
    Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW.
    Exp Clin Endocrinol Diabetes; 2012 Jan 10; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 6. [Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].
    Ma DY, Sun Y, Chen Y, Yang B, Cheng J, Huang ML, Zhang J, Zhang JJ, Hu P, Lin Y, Jiang T, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb 10; 30(1):49-54. PubMed ID: 23450479
    [Abstract] [Full Text] [Related]

  • 7. Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.
    Xu Z, Chen W, Merke DP, McDonnell NB.
    J Mol Diagn; 2013 Nov 10; 15(6):745-53. PubMed ID: 24071710
    [Abstract] [Full Text] [Related]

  • 8. Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
    Ma D, Chen Y, Sun Y, Yang B, Cheng J, Huang M, Zhang J, Zhang J, Hu P, Lin Y, Jiang T, Xu Z.
    Clin Biochem; 2014 Apr 10; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 9. A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
    Mohamed S, El-Kholy S, Al-Juryyan N, Al-Nemri AM, Abu-Amero KK.
    Saudi Med J; 2015 Jan 10; 36(1):113-6. PubMed ID: 25630015
    [Abstract] [Full Text] [Related]

  • 10. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R.
    Clin Chim Acta; 2014 Nov 01; 437():48-51. PubMed ID: 25025300
    [Abstract] [Full Text] [Related]

  • 11. 21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
    Wang R, Yu Y, Ye J, Han L, Qiu W, Zhang H, Liang L, Gong Z, Wang L, Gu X.
    Steroids; 2016 Apr 01; 108():47-55. PubMed ID: 26804566
    [Abstract] [Full Text] [Related]

  • 12. Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
    Prado MJ, de Castro SM, Kopacek C, de Mello MP, Rispoli T, Grandi T, da Silva CMD, Rossetti MLR.
    Mol Diagn Ther; 2017 Dec 01; 21(6):663-675. PubMed ID: 28819757
    [Abstract] [Full Text] [Related]

  • 13. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
    Oh Y, Park SW, Chun SM, Lim N, Ahn KS, Ka JO, Jin DK, Han BD.
    Mol Diagn Ther; 2009 Dec 01; 13(6):397-405. PubMed ID: 19925038
    [Abstract] [Full Text] [Related]

  • 14. Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
    Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS.
    J Endocrinol Invest; 2013 Jun 01; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 15. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Dubey S, Tardy V, Chowdhury MR, Gupta N, Jain V, Deka D, Sharma P, Morel Y, Kabra M.
    Indian J Med Res; 2017 Feb 01; 145(2):194-202. PubMed ID: 28639595
    [Abstract] [Full Text] [Related]

  • 16. Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
    Su L, Yin X, Cheng J, Cai Y, Wu D, Feng Z, Liu L.
    Clin Chim Acta; 2018 Nov 01; 486():142-150. PubMed ID: 30048636
    [Abstract] [Full Text] [Related]

  • 17. The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
    Kirac D, Guney AI, Akcay T, Guran T, Ulucan K, Turan S, Ergec D, Koc G, Eren F, Kaspar EC, Bereket A.
    Ann Hum Genet; 2014 Nov 01; 78(6):399-409. PubMed ID: 25227725
    [Abstract] [Full Text] [Related]

  • 18. A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
    Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A.
    J Endocrinol Invest; 2012 Mar 01; 35(3):298-305. PubMed ID: 21521936
    [Abstract] [Full Text] [Related]

  • 19. [Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Luo C, Jiang T, Zhang J, Li L, Sun Y, Liu G, Wang Y, Cheng J, Ma D, Xu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec 10; 35(6):832-835. PubMed ID: 30512157
    [Abstract] [Full Text] [Related]

  • 20. Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
    Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.
    J Perinatol; 2013 Jan 10; 33(1):76-8. PubMed ID: 23269230
    [Abstract] [Full Text] [Related]

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