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Journal Abstract Search

164 related items for PubMed ID: 37324257

  • 21. Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
    Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.
    J Perinatol; 2013 Jan; 33(1):76-8. PubMed ID: 23269230
    [Abstract] [Full Text] [Related]

  • 22. A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
    Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A.
    J Endocrinol Invest; 2012 Mar; 35(3):298-305. PubMed ID: 21521936
    [Abstract] [Full Text] [Related]

  • 23. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
    Jayakrishnan R, Lao Q, Adams SD, Ward WW, Merke DP.
    Gene; 2019 Mar 01; 687():30-34. PubMed ID: 30419250
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
    Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A.
    Eur J Med Genet; 2021 Dec 01; 64(12):104369. PubMed ID: 34718183
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. 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 01; 20(2):123-7. PubMed ID: 21532487
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.
    Ma D, Ge H, Li X, Jiang T, Chen F, Zhang Y, Hu P, Chen S, Zhang J, Ji X, Xu X, Jiang H, Chen M, Wang W, Xu Z.
    Gene; 2014 Jul 10; 544(2):252-8. PubMed ID: 24768736
    [Abstract] [Full Text] [Related]

  • 30. Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
    Liu Y, Chen M, Liu J, Mao A, Teng Y, Yan H, Zhu H, Li Z, Liang D, Wu L.
    Clin Chem; 2022 Jul 03; 68(7):927-939. PubMed ID: 35714169
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. 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 01; 15(6):745-53. PubMed ID: 24071710
    [Abstract] [Full Text] [Related]

  • 33. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
    Baumgartner-Parzer SM, Fischer G, Vierhapper H.
    J Clin Endocrinol Metab; 2007 Mar 01; 92(3):1164-7. PubMed ID: 17164306
    [Abstract] [Full Text] [Related]

  • 34. [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]

  • 35. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
    Gangodkar P, Khadilkar V, Raghupathy P, Kumar R, Dayal AA, Dayal D, Ayyavoo A, Godbole T, Jahagirdar R, Bhat K, Gupta N, Kamalanathan S, Jagadeesh S, Ranade S, Lohiya N, Oke RL, Ganesan K, Khatod K, Agarwal M, Phadke N, Khadilkar A.
    Endocrine; 2021 Jan 24; 71(1):189-198. PubMed ID: 32948948
    [Abstract] [Full Text] [Related]

  • 36. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
    Silva RS, Carvalho B, Pedro J, Castro-Correia C, Carvalho D, Carvalho F, Fontoura M.
    Arch Endocrinol Metab; 2022 Apr 28; 66(2):168-175. PubMed ID: 35289513
    [Abstract] [Full Text] [Related]

  • 37. 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 28; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 38. Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
    Monteiro A, Pavithran PV, Puthukulangara M, Bhavani N, Nampoothiri S, Yesodharan D, Kumaran R.
    Hormones (Athens); 2023 Jun 28; 22(2):311-320. PubMed ID: 36952211
    [Abstract] [Full Text] [Related]

  • 39. Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
    Chi DV, Tran TH, Nguyen DH, Luong LH, Le PT, Ta MH, Ngo HTT, Nguyen MP, Le-Anh TP, Nguyen DP, Bui TH, Ta VT, Tran VK.
    Mol Genet Genomic Med; 2019 May 28; 7(5):e623. PubMed ID: 30816000
    [Abstract] [Full Text] [Related]

  • 40. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U.
    Front Endocrinol (Lausanne); 2023 May 28; 14():1134133. PubMed ID: 37008950
    [Abstract] [Full Text] [Related]

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