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Journal Abstract Search

273 related items for PubMed ID: 28819757

  • 1. 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; 21(6):663-675. PubMed ID: 28819757
    [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. 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]

  • 4. 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]

  • 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. [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]

  • 7. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
    Saraf S, Srivastava P, Panigrahi I, Seenappa V, Kumar R, Yadav J, Daniel R, Dayal D.
    Indian J Pediatr; 2024 Feb 10; 91(2):137-142. PubMed ID: 35094236
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
    Kopacek C, Prado MJ, da Silva CMD, de Castro SM, Beltrão LA, Vargas PR, Grandi T, Rossetti MLR, Spritzer PM.
    J Pediatr (Rio J); 2019 Apr 10; 95(3):282-290. PubMed ID: 29715434
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
    Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T, on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology.
    Horm Res Paediatr; 2019 Jan 10; 91(1):33-45. PubMed ID: 30889569
    [Abstract] [Full Text] [Related]

  • 13. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
    de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.
    Eur J Endocrinol; 2016 Aug 10; 175(2):107-16. PubMed ID: 27185867
    [Abstract] [Full Text] [Related]

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  • 15. 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 10; 486():142-150. PubMed ID: 30048636
    [Abstract] [Full Text] [Related]

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

  • 17. [Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency].
    Zheng R, Zhang L, Yuan Q, Man H, Yang J, Wang Y, Hu Z, Zhang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb 10; 36(2):120-123. PubMed ID: 30703227
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. 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 28; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

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