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164 related items for PubMed ID: 25027547

  • 1. Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
    Shi M, Chen X, Zhou Q, Shen F.
    Gynecol Endocrinol; 2014; 30(12):890-3. PubMed ID: 25027547
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  • 3. Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
    Wei JQ, Wei JL, Li WC, Bi YS, Wei FC.
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3647-53. PubMed ID: 16822828
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  • 6. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
    Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X.
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3619-25. PubMed ID: 16772352
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  • 7. Seventeen alpha-hydroxylase deficiency.
    Wong SL, Shu SG, Tsai CR.
    J Formos Med Assoc; 2006 Feb; 105(2):177-81. PubMed ID: 16477341
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  • 8. A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
    Lee ES, Kim M, Moon S, Jekarl DW, Lee S, Kim Y, Choi GY.
    Gynecol Endocrinol; 2013 Jul; 29(7):720-3. PubMed ID: 23772786
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  • 10. Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis.
    Zhang Y, Zhang X, Wang Y, Hua K, Ding J.
    Gynecol Endocrinol; 2018 Jun; 34(6):540-544. PubMed ID: 29345162
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  • 11. A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
    Sun M, Yan X, Feng A, Wu X, Ye E, Wu H, Lu X, Yang H.
    Discov Med; 2017 Nov; 24(133):175-182. PubMed ID: 29278670
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  • 12. 17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.
    Li H, Qiao J, Guo H.
    Gynecol Endocrinol; 2010 Jul; 26(7):521-3. PubMed ID: 20170344
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  • 13. 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
    Wu C, Fan S, Qian Y, Zhou Y, Jin J, Dai Z, Jiang L.
    Endocr Pract; 2017 May; 23(5):576-582. PubMed ID: 28225307
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  • 14. Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
    Ergun-Longmire B, Auchus R, Papari-Zareei M, Tansil S, Wilson RC, New MI.
    J Clin Endocrinol Metab; 2006 Oct; 91(10):4179-82. PubMed ID: 16849412
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  • 15. Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
    Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.
    J Clin Endocrinol Metab; 2002 Feb; 87(2):898-905. PubMed ID: 11836339
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  • 16. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T.
    Horm Res; 2001 Feb; 55(3):141-6. PubMed ID: 11549876
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  • 17. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
    Qiao J, Chen X, Zuo CL, Gu YY, Liu BL, Liang J, Lu YL, Tang JF, Wu YX, Chen MD, Chen JL, Wu WL, Song HD.
    Clin Endocrinol (Oxf); 2010 Mar; 72(3):312-9. PubMed ID: 19508587
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  • 18. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.
    Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W, Li X.
    J Steroid Biochem Mol Biol; 2015 Jun; 150():11-6. PubMed ID: 25697092
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  • 19. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
    Tian Q, Zhang Y, Lu Z.
    Gynecol Endocrinol; 2008 Jul; 24(7):362-7. PubMed ID: 18645707
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  • 20. A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
    Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S.
    J Clin Endocrinol Metab; 1997 Jun; 82(6):1934-8. PubMed ID: 9177409
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