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137 related items for PubMed ID: 37815751

  • 1. Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
    Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, Mao J, Nie M.
    J Endocrinol Invest; 2024 Apr; 47(4):833-841. PubMed ID: 37815751
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
    Li H, Zhu X, Yang Y, Wang W, Mao A, Li J, Bao S, Li J.
    Clin Chim Acta; 2023 Jul 01; 547():117419. PubMed ID: 37276943
    [Abstract] [Full Text] [Related]

  • 4. Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort.
    Wang R, Luo X, Sun Y, Liang L, Mao A, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Han L, Zhang H, Gu X, Qiu W, Yu Y.
    J Clin Endocrinol Metab; 2024 Jul 25. PubMed ID: 39049755
    [Abstract] [Full Text] [Related]

  • 5. 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 25; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 6. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb 25; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 7. Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
    Tantirukdham N, Sahakitrungruang T, Chaisiwamongkol R, Pongpanich M, Srichomthong C, Assawapitaksakul A, Buasong A, Tongkobpetch S, Yeetong P, Shotelersuk V.
    J Clin Endocrinol Metab; 2022 Jun 16; 107(7):1939-1947. PubMed ID: 35363313
    [Abstract] [Full Text] [Related]

  • 8. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
    Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.
    BMC Med Genet; 2010 Jun 29; 11():104. PubMed ID: 20587039
    [Abstract] [Full Text] [Related]

  • 9. 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 29; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.
    Lao Q, Zhou K, Parker M, Faucz FR, Merke DP.
    Genes (Basel); 2023 Jan 19; 14(2):. PubMed ID: 36833192
    [Abstract] [Full Text] [Related]

  • 13. Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
    Tsai LP, Cheng CF, Chuang SH, Lee HH.
    Anal Biochem; 2011 Jun 15; 413(2):133-41. PubMed ID: 21324303
    [Abstract] [Full Text] [Related]

  • 14. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
    Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L.
    Eur J Med Genet; 2011 Jun 15; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.
    BMC Med Genet; 2009 Jul 22; 10():72. PubMed ID: 19624807
    [Abstract] [Full Text] [Related]

  • 18. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
    Koppens PF, Hoogenboezem T, Degenhart HJ.
    Hum Mol Genet; 2002 Oct 01; 11(21):2581-90. PubMed ID: 12354783
    [Abstract] [Full Text] [Related]

  • 19. [Detection of CYP21A2 gene mutations and the differences in the levels of hormones 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; 2020 Mar 03; 100(8):586-592. PubMed ID: 32164112
    [Abstract] [Full Text] [Related]

  • 20. Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Xu J, Li P.
    Clin Biochem; 2019 Jun 03; 68():44-49. PubMed ID: 30995443
    [Abstract] [Full Text] [Related]

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