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Journal Abstract Search

171 related items for PubMed ID: 21570420

  • 1. Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
    Chan AO, But WM, Ng KL, Wong LM, Lam YY, Tiu SC, Lee KF, Lee CY, Loung PY, Berry IR, Brown R, Charlton R, Cheng CW, Ho YC, Tse WY, Shek CC.
    Steroids; 2011; 76(10-11):1057-62. PubMed ID: 21570420
    [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. 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]

  • 4. 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]

  • 5. 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]

  • 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. 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]

  • 8. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Nov 10; 1(3):116-28. PubMed ID: 21274396
    [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. Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
    Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J.
    Mol Genet Genomic Med; 2019 Jun 10; 7(6):e671. PubMed ID: 30968594
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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]

  • 14. 21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
    Turan I, Tastan M, Boga DD, Gurbuz F, Kotan LD, Tuli A, Yüksel B.
    Eur J Med Genet; 2020 Apr 10; 63(4):103782. PubMed ID: 31586465
    [Abstract] [Full Text] [Related]

  • 15. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
    Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E.
    J Clin Endocrinol Metab; 2005 Oct 10; 90(10):5769-73. PubMed ID: 16046588
    [Abstract] [Full Text] [Related]

  • 16. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
    Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W.
    J Pediatr Endocrinol Metab; 2020 Jul 28; 33(7):893-900. PubMed ID: 32614782
    [Abstract] [Full Text] [Related]

  • 17. Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
    Yu Y, Wang J, Huang X, Wang Y, Yang P, Li J, Tsuei SH, Shen Y, Fu Q.
    Genet Test Mol Biomarkers; 2011 Mar 28; 15(3):137-42. PubMed ID: 21198393
    [Abstract] [Full Text] [Related]

  • 18. 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 Mar 28; 31(2):71-82. PubMed ID: 21258279
    [Abstract] [Full Text] [Related]

  • 19. 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 28; 464():189-194. PubMed ID: 27890570
    [Abstract] [Full Text] [Related]

  • 20. [Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Luo C, Jiang T, Zhang J, Li L, Sun Y, Liu G, Wang Y, Cheng J, Ma D, Xu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec 10; 35(6):832-835. PubMed ID: 30512157
    [Abstract] [Full Text] [Related]

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