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127 related items for PubMed ID: 21532487

  • 1. Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods.
    Kharrat M, Riahi A, Maazoul F, M'rad R, Chaabouni H.
    Diagn Mol Pathol; 2011 Jun; 20(2):123-7. PubMed ID: 21532487
    [Abstract] [Full Text] [Related]

  • 2. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
    Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.
    J Clin Endocrinol Metab; 2009 Oct; 94(10):3954-8. PubMed ID: 19773403
    [Abstract] [Full Text] [Related]

  • 3. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.
    Ezquieta B, Beneyto M, Muñoz-Pacheco R, Barrio R, Oyarzabal M, Lechuga JL, Luzuriaga C, Hermoso F, Quinteiro S, Martinez S.
    Prenat Diagn; 2006 Dec; 26(12):1172-8. PubMed ID: 17042033
    [Abstract] [Full Text] [Related]

  • 4. 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; 33(1):76-8. PubMed ID: 23269230
    [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. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
    Koppens PF, Hoogenboezem T, Degenhart HJ.
    Hum Genet; 2002 Oct 10; 111(4-5):405-10. PubMed ID: 12384784
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
    Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.
    Clin Chem Lab Med; 2008 Nov 10; 46(12):1707-13. PubMed ID: 18973462
    [Abstract] [Full Text] [Related]

  • 10. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
    Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón DG, Cabezas-Agrícola JM, Sueiro AM, Araujo-Vilar D, Catro-Feijóo L, Costas J, Pombo M, Domínguez F.
    Clin Endocrinol (Oxf); 2006 Mar 10; 64(3):330-6. PubMed ID: 16487445
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Mutation analysis of the CYP21A2 gene in the Iranian population.
    Rabbani B, Mahdieh N, Ashtiani MT, Larijani B, Akbari MT, New M, Parsa A, Schouten JP, Rabbani A.
    Genet Test Mol Biomarkers; 2012 Feb 10; 16(2):82-90. PubMed ID: 22017335
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 21(6):663-675. PubMed ID: 28819757
    [Abstract] [Full Text] [Related]

  • 14. Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
    Ben Charfeddine I, Riepe FG, Clauser E, Ayedi A, Makni S, Sfar MT, Sboui H, Kahloul N, Ben Hamouda H, Chouchane S, Trimech S, Zouari N, M'Rabet S, Amri F, Saad A, Holterhus PM, Gribaa M.
    Gene; 2012 Oct 01; 507(1):20-6. PubMed ID: 22841790
    [Abstract] [Full Text] [Related]

  • 15. Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.
    Blaskó B, Bánlaki Z, Gyapay G, Pozsonyi E, Sasvári-Székely M, Rajczy K, Füst G, Szilágyi A.
    Mol Immunol; 2009 Aug 01; 46(13):2623-9. PubMed ID: 19505723
    [Abstract] [Full Text] [Related]

  • 16. [Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].
    Su Y, Chen H, Zhu W, Wang J, Zhou J, Chen Y, Zhao H, Zeng Y, Lin F, Zhang H, Lin Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):786-791. PubMed ID: 27984606
    [Abstract] [Full Text] [Related]

  • 17. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
    Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA.
    Front Endocrinol (Lausanne); 2023 Dec 10; 14():1156616. PubMed ID: 37324257
    [Abstract] [Full Text] [Related]

  • 18. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
    Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H.
    J Clin Endocrinol Metab; 2004 Jan 10; 89(1):368-74. PubMed ID: 14715874
    [Abstract] [Full Text] [Related]

  • 19. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep 10; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 20. A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.
    Baumgartner-Parzer SM, Nowotny P, Waldhäusl W, Vierhapper H.
    J Clin Endocrinol Metab; 2003 Jun 10; 88(6):2794-6. PubMed ID: 12788889
    [Abstract] [Full Text] [Related]

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