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167 related items for PubMed ID: 21550081

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

  • 2. CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
    Wang YP, Zhao YJ, Zhou GY, He B.
    Gynecol Endocrinol; 2014 Jun; 30(6):456-60. PubMed ID: 24597476
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
    Rubtsov P, Nizhnik A, Dedov I, Kalinchenko N, Petrov V, Orekhova A, Spirin P, Prassolov V, Tiulpakov A.
    Eur J Endocrinol; 2015 May; 172(5):K19-25. PubMed ID: 25650406
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.
    Lee MH, Won Park S, Yoon TK, Shim SH.
    Gynecol Endocrinol; 2012 Jul; 28(7):573-6. PubMed ID: 22452398
    [Abstract] [Full Text] [Related]

  • 11. [Analysis of CYP17A1 gene mutation in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency].
    Yang K, Zhang B, Cui SX, Guo QN, Hou QF, Li QC, Liao SX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Aug; 30(4):439-42. PubMed ID: 23926012
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
    Coeli-Lacchini FB, Mermejo LM, Bodoni AF, Elias LLK, Silva WA, Antonini SR, Moreira AC, de Castro M.
    Horm Metab Res; 2020 Mar; 52(3):186-193. PubMed ID: 32215889
    [Abstract] [Full Text] [Related]

  • 14. The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
    Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T'Sjoen G, Denvir L, Shenoy S, Fulton P, Cheetham TD, Gleeson H, Rahman M, Krone NP, Taylor NF, Shackleton CHL, Arlt W, Idkowiak J.
    Eur J Endocrinol; 2021 Oct 11; 185(5):729-741. PubMed ID: 34524979
    [Abstract] [Full Text] [Related]

  • 15. Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.
    Han B, Liu W, Zuo CL, Zhu H, Li L, Xu C, Wang XJ, Liu BL, Pan CM, Lu YL, Wu WL, Chen MD, Song HD, Cheng KX, Qiao J.
    Gene; 2013 Mar 10; 516(2):345-50. PubMed ID: 23291414
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 29(7):720-3. PubMed ID: 23772786
    [Abstract] [Full Text] [Related]

  • 17. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
    Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.
    Sex Dev; 2015 Jul 10; 9(2):91-7. PubMed ID: 25765894
    [Abstract] [Full Text] [Related]

  • 18. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
    Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.
    Metabolism; 2014 Jan 10; 63(1):42-9. PubMed ID: 24140098
    [Abstract] [Full Text] [Related]

  • 19. 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 10; 56(4):504-7. PubMed ID: 17379008
    [Abstract] [Full Text] [Related]

  • 20. New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.
    Xiao H, Zhang H, Li T, Wu D, Qin LT, Wang T, Zhang B, Liao SX.
    Genet Mol Res; 2015 Aug 10; 14(3):9318-24. PubMed ID: 26345865
    [Abstract] [Full Text] [Related]

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