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204 related items for PubMed ID: 31874511

  • 1. [Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
    Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M.
    Zhonghua Yi Xue Za Zhi; 2019 Dec 24; 99(48):3765-3769. PubMed ID: 31874511
    [Abstract] [Full Text] [Related]

  • 2. [Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
    Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M.
    Zhonghua Yi Xue Za Zhi; 2020 Mar 03; 100(8):586-592. PubMed ID: 32164112
    [Abstract] [Full Text] [Related]

  • 3. Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
    Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, Mao J, Nie M.
    J Endocrinol Invest; 2024 Apr 03; 47(4):833-841. PubMed ID: 37815751
    [Abstract] [Full Text] [Related]

  • 4. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb 03; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. [Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
    Gao YJ, Yu BQ, Lu L, Tong AL, Chen S, Mao JF, Wang X, Wu XY, Nie M.
    Zhonghua Yi Xue Za Zhi; 2019 Feb 12; 99(6):432-437. PubMed ID: 30786337
    [Abstract] [Full Text] [Related]

  • 8. [Molecular and clinical study on homozygous or heterozygous large deletion of CYP21A2 gene in 21-OHD patients].
    Gao YJ, Yu BQ, Lu L, Tong AL, Chen S, Mao JF, Wang X, Wu XY, Nie M.
    Zhonghua Yi Xue Za Zhi; 2019 Mar 26; 99(12):912-917. PubMed ID: 30917440
    [Abstract] [Full Text] [Related]

  • 9. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
    Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L.
    Eur J Med Genet; 2011 Mar 26; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 10. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.
    BMC Med Genet; 2009 Jul 22; 10():72. PubMed ID: 19624807
    [Abstract] [Full Text] [Related]

  • 11. 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 22; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 12. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
    Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.
    BMC Med Genet; 2010 Jun 29; 11():104. PubMed ID: 20587039
    [Abstract] [Full Text] [Related]

  • 13. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
    Li H, Zhu X, Yang Y, Wang W, Mao A, Li J, Bao S, Li J.
    Clin Chim Acta; 2023 Jul 01; 547():117419. PubMed ID: 37276943
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 15. Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Chen W, Xu Z, Nishitani M, Van Ryzin C, McDonnell NB, Merke DP.
    Hum Genet; 2012 Dec 01; 131(12):1889-94. PubMed ID: 22886582
    [Abstract] [Full Text] [Related]

  • 16. Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
    Cantürk C, Baade U, Salazar R, Storm N, Pörtner R, Höppner W.
    Clin Chem; 2011 Mar 01; 57(3):511-7. PubMed ID: 21148302
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 15(6):745-53. PubMed ID: 24071710
    [Abstract] [Full Text] [Related]

  • 18. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
    Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A.
    Gene; 2013 Jan 15; 513(1):202-8. PubMed ID: 23142378
    [Abstract] [Full Text] [Related]

  • 19. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
    Jayakrishnan R, Lao Q, Adams SD, Ward WW, Merke DP.
    Gene; 2019 Mar 01; 687():30-34. PubMed ID: 30419250
    [Abstract] [Full Text] [Related]

  • 20. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
    Int J Mol Med; 2010 Oct 01; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

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