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Journal Abstract Search

297 related items for PubMed ID: 20818501

  • 1. 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; 26(4):595-603. PubMed ID: 20818501
    [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. 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 Sep 10; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 4. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 10; 165(Pt A):51-56. PubMed ID: 27041116
    [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. 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]

  • 7. 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]

  • 8. 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]

  • 9. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.
    J Endocrinol Invest; 2015 Nov 01; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 10. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
    Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.
    Clin Endocrinol (Oxf); 2007 Sep 01; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 33(1):76-8. PubMed ID: 23269230
    [Abstract] [Full Text] [Related]

  • 12. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q, Burkardt DD, Kollender S, Faucz FR, Merke DP.
    Mol Genet Genomic Med; 2023 Jul 01; 11(7):e2195. PubMed ID: 37157918
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 14. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P, Costella A.
    Mol Diagn Ther; 2018 Jun 01; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 15. A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
    Concolino P, Minucci A, Mello E, Zuppi C, Capoluongo E.
    Clin Chem Lab Med; 2009 Jun 01; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

  • 16. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 01; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

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  • 18. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
    Parajes S, Quinterio C, Domínguez F, Loidi L.
    Clin Chem; 2007 Sep 01; 53(9):1577-84. PubMed ID: 17634211
    [Abstract] [Full Text] [Related]

  • 19. [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]

  • 20. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
    Parajes S, Quinteiro C, Domínguez F, Loidi L.
    PLoS One; 2008 May 14; 3(5):e2138. PubMed ID: 18478071
    [Abstract] [Full Text] [Related]

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