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Journal Abstract Search

273 related items for PubMed ID: 25025300

  • 1. 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]

  • 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. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
    Fanis P, Skordis N, Phylactou LA, Neocleous V.
    Hormones (Athens); 2023 Mar 10; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 4. 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 10; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.
    Zhang R, Cui D, Song C, Ma X, Cai N, Zhang Y, Feng M, Cao Y, Chen L, Qiang R.
    Clin Chim Acta; 2024 Mar 01; 555():117820. PubMed ID: 38307397
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
    Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA.
    Front Endocrinol (Lausanne); 2023 Dec 01; 14():1156616. PubMed ID: 37324257
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 35(5):535-9. PubMed ID: 26206692
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 63(4):103782. PubMed ID: 31586465
    [Abstract] [Full Text] [Related]

  • 13. Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
    Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, Vaiani E, Finkielstain G, Obregón MG, Balbi V, Soria I, Belgorosky A.
    J Clin Endocrinol Metab; 2021 Jun 16; 106(7):e2789-e2802. PubMed ID: 33482002
    [Abstract] [Full Text] [Related]

  • 14. 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 16; 15(6):745-53. PubMed ID: 24071710
    [Abstract] [Full Text] [Related]

  • 15. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
    Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.
    J Clin Endocrinol Metab; 2009 Oct 16; 94(10):3954-8. PubMed ID: 19773403
    [Abstract] [Full Text] [Related]

  • 16. Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
    Lee HH.
    Clin Chim Acta; 2013 Mar 15; 418():37-44. PubMed ID: 23313747
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 Oct 15; 41(1):44-7. PubMed ID: 21325254
    [Abstract] [Full Text] [Related]

  • 19. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 15; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

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