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424 related items for PubMed ID: 22020670

  • 1. 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; 120(1):23-7. PubMed ID: 22020670
    [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. 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 10; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. 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 10; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 10; 108():47-55. PubMed ID: 26804566
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr 10; 41(1):44-7. PubMed ID: 21325254
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 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 10; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 10; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

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  • 16. 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]

  • 17. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
    Tsai LP, Cheng CF, Hsieh JP, Teng MS, Lee HH.
    Clin Chim Acta; 2009 Dec 10; 410(1-2):48-53. PubMed ID: 19778530
    [Abstract] [Full Text] [Related]

  • 18. [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]

  • 19. 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]

  • 20. 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 15; 486():142-150. PubMed ID: 30048636
    [Abstract] [Full Text] [Related]

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