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106 related items for PubMed ID: 21507910

  • 1. Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics.
    Concolino P, Mello E, Minucci A, Zuppi C, Capoluongo E.
    Clin Chem; 2011 Jul; 57(7):1079-80. PubMed ID: 21507910
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  • 2. Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
    Cantürk C, Baade U, Salazar R, Storm N, Pörtner R, Höppner W.
    Clin Chem; 2011 Mar; 57(3):511-7. PubMed ID: 21148302
    [Abstract] [Full Text] [Related]

  • 3. 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; 402(1-2):164-70. PubMed ID: 19263525
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  • 4. 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; 41(1):44-7. PubMed ID: 21325254
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  • 6. 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; 15(6):745-53. PubMed ID: 24071710
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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 10; 20(2):123-7. PubMed ID: 21532487
    [Abstract] [Full Text] [Related]

  • 10. 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
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  • 13. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R.
    Clin Chim Acta; 2014 Nov 01; 437():48-51. PubMed ID: 25025300
    [Abstract] [Full Text] [Related]

  • 14. [Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
    Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M.
    Zhonghua Yi Xue Za Zhi; 2019 Dec 24; 99(48):3765-3769. PubMed ID: 31874511
    [Abstract] [Full Text] [Related]

  • 15. [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Fujieda K, Mukai T.
    Nihon Rinsho; 2004 Feb 24; 62(2):361-7. PubMed ID: 14968546
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  • 16. CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
    Elmougy F, Sharaf S, Hafez M, Khattab A, Abou-Yousef H, Elsharkawy M, Baz H, Ekladious S, Sherif B, Musa N, Elshiwy Y, Afif A, Abdullatif M, Thabet G, Rady N, Ibrahim A, Soliman H.
    Ann N Y Acad Sci; 2018 Mar 24; 1415(1):11-20. PubMed ID: 29266270
    [Abstract] [Full Text] [Related]

  • 17. In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
    Rumsby G, Honour JW.
    J Med Genet; 1990 Nov 24; 27(11):676-8. PubMed ID: 2277381
    [Abstract] [Full Text] [Related]

  • 18. Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.
    Yuan D, Cai R, Mao A, Tan J, Zhong Q, Zeng D, Tang N, Wei X, Huang J, Zhang Y, Chen D, Yang J, Li Y, Zheng X, Li J, Li D, Yan T.
    J Mol Diagn; 2024 Sep 24; 26(9):770-780. PubMed ID: 38925455
    [Abstract] [Full Text] [Related]

  • 19. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P, Costella A.
    Mol Diagn Ther; 2018 Jun 24; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 20. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
    Parajes S, Quinterio C, Domínguez F, Loidi L.
    Clin Chem; 2007 Sep 24; 53(9):1577-84. PubMed ID: 17634211
    [Abstract] [Full Text] [Related]

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