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Journal Abstract Search

176 related items for PubMed ID: 16849412

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.
    Won GS, Chiu CY, Tso YC, Jenq SF, Cheng PS, Jap TS.
    Metabolism; 2007 Apr; 56(4):504-7. PubMed ID: 17379008
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  • 3. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K.
    J Steroid Biochem Mol Biol; 2005 Nov; 97(3):257-65. PubMed ID: 16176874
    [Abstract] [Full Text] [Related]

  • 4. Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Bhangoo A, Aisenberg J, Chartoffe A, Ten S, Wallerstein RJ, Wolf R, Auchus RJ.
    J Pediatr Endocrinol Metab; 2008 Feb; 21(2):185-90. PubMed ID: 18422032
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  • 5. 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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  • 6. 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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  • 7. 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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  • 8. 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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  • 11. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
    Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz HP, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.
    J Clin Endocrinol Metab; 2009 Aug; 94(8):3058-64. PubMed ID: 19454579
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  • 12. Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Ogawa E, Fujiwara I, Fujikura K.
    Metabolism; 2010 Feb; 59(2):275-8. PubMed ID: 19793597
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  • 13. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.
    Takeda Y, Yoneda T, Demura M, Furukawa K, Koshida H, Miyamori I, Mabuchi H.
    Clin Endocrinol (Oxf); 2001 Jun; 54(6):751-8. PubMed ID: 11422109
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  • 14. A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP.
    J Clin Endocrinol Metab; 2006 Jun; 91(6):2428-31. PubMed ID: 16569739
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  • 15. Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency.
    Wang YP, Li J, Li JX, Zhao YJ, Zhang DY.
    Metabolism; 2011 Oct; 60(10):1386-91. PubMed ID: 21550081
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  • 19. 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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  • 20. 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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