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Journal Abstract Search

194 related items for PubMed ID: 19773403

  • 21. A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
    Concolino P.
    Mol Biol Rep; 2020 Apr; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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]

  • 24. 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 15; 111(4-5):405-10. PubMed ID: 12384784
    [Abstract] [Full Text] [Related]

  • 25. 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 15; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 26. Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
    Evgrafov OV, Polyakov AV, Dzenis IG, Baharev VA.
    Hum Mutat; 1995 Oct 15; 5(2):131-6. PubMed ID: 7749411
    [Abstract] [Full Text] [Related]

  • 27. 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 15; 35(5):535-9. PubMed ID: 26206692
    [Abstract] [Full Text] [Related]

  • 28. Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives.
    Anastasovska V, Kocova M.
    Prilozi; 2010 Sep 15; 31(2):71-82. PubMed ID: 21258279
    [Abstract] [Full Text] [Related]

  • 29. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
    Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2011 Oct 15; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 30. [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]

  • 31. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.
    J Clin Endocrinol Metab; 2011 Jan 10; 96(1):E161-72. PubMed ID: 20926536
    [Abstract] [Full Text] [Related]

  • 32. Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Porzio O, Cunsolo V, Malaponti M, De Nisco E, Acquafredda A, Cavallo L, Andreani M, Giardina E, Testi M, Cappa M, Federici G.
    J Clin Endocrinol Metab; 2006 Nov 10; 91(11):4510-3. PubMed ID: 16912133
    [Abstract] [Full Text] [Related]

  • 33. The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
    Khajuria R, Walia R, Bhansali A, Prasad R.
    Clin Chim Acta; 2017 Jan 10; 464():189-194. PubMed ID: 27890570
    [Abstract] [Full Text] [Related]

  • 34. Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
    Forouzanfar K, Seifi M, Hashemi-Gorji F, Karimi N, Estiar MA, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R.
    Cell Mol Biol (Noisy-le-grand); 2015 Aug 17; 61(4):51-5. PubMed ID: 26278268
    [Abstract] [Full Text] [Related]

  • 35. 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 17; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 36. Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
    Chang SF, Lee HH.
    Genet Test Mol Biomarkers; 2011 Jan 17; 15(1-2):35-42. PubMed ID: 21117955
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep 01; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
    Levo A, Partanen J.
    Hum Genet; 1997 Apr 01; 99(4):488-97. PubMed ID: 9099839
    [Abstract] [Full Text] [Related]

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