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Journal Abstract Search

248 related items for PubMed ID: 22217842

  • 21. Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR.
    J Clin Endocrinol Metab; 1992 Mar; 74(3):667-72. PubMed ID: 1740503
    [Abstract] [Full Text] [Related]

  • 22. A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
    Hahm JR, Kim DR, Jeong DK, Chung JH, Lee MS, Min YK, Kim KW, Lee MK.
    Metabolism; 2003 Apr; 52(4):488-92. PubMed ID: 12701064
    [Abstract] [Full Text] [Related]

  • 23. 17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene.
    Müssig K, Kaltenbach S, Machicao F, Maser-Gluth C, Hartmann MF, Wudy SA, Schnauder G, Häring HU, Seif FJ, Gallwitz B.
    J Clin Endocrinol Metab; 2005 Jul; 90(7):4362-5. PubMed ID: 15811924
    [Abstract] [Full Text] [Related]

  • 24. CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
    Sherbet DP, Tiosano D, Kwist KM, Hochberg Z, Auchus RJ.
    J Biol Chem; 2003 Dec 05; 278(49):48563-9. PubMed ID: 14504283
    [Abstract] [Full Text] [Related]

  • 25. 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 05; 94(8):3058-64. PubMed ID: 19454579
    [Abstract] [Full Text] [Related]

  • 26. The genetic and functional basis of isolated 17,20-lyase deficiency.
    Geller DH, Auchus RJ, Mendonça BB, Miller WL.
    Nat Genet; 1997 Oct 05; 17(2):201-5. PubMed ID: 9326943
    [Abstract] [Full Text] [Related]

  • 27. A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency.
    Suzuki Y, Nagashima T, Nomura Y, Onigata K, Nagashima K, Morikawa A.
    J Clin Endocrinol Metab; 1998 Jan 05; 83(1):199-202. PubMed ID: 9435441
    [Abstract] [Full Text] [Related]

  • 28. 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 05; 82(6):1934-8. PubMed ID: 9177409
    [Abstract] [Full Text] [Related]

  • 29. 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 05; 24(133):175-182. PubMed ID: 29278670
    [Abstract] [Full Text] [Related]

  • 30. Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.
    Auchus RJ, Miller WL.
    Mol Endocrinol; 1999 Jul 05; 13(7):1169-82. PubMed ID: 10406467
    [Abstract] [Full Text] [Related]

  • 31. 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 05; 91(9):3647-53. PubMed ID: 16822828
    [Abstract] [Full Text] [Related]

  • 32. 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 05; 29(7):720-3. PubMed ID: 23772786
    [Abstract] [Full Text] [Related]

  • 33. 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 05; 63(1):42-9. PubMed ID: 24140098
    [Abstract] [Full Text] [Related]

  • 34. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
    Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL.
    J Clin Endocrinol Metab; 2008 Sep 05; 93(9):3584-8. PubMed ID: 18559916
    [Abstract] [Full Text] [Related]

  • 35. The molecular basis of isolated 17,20 lyase deficiency.
    Miller WL, Geller DH, Auchus RJ.
    Endocr Res; 1998 Sep 05; 24(3-4):817-25. PubMed ID: 9888582
    [Abstract] [Full Text] [Related]

  • 36. Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
    Marsh CA, Auchus RJ.
    Fertil Steril; 2014 Feb 05; 101(2):317-22. PubMed ID: 24485502
    [Abstract] [Full Text] [Related]

  • 37. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.
    Geller DH, Auchus RJ, Miller WL.
    Mol Endocrinol; 1999 Jan 05; 13(1):167-75. PubMed ID: 9892022
    [Abstract] [Full Text] [Related]

  • 38. A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency.
    Lee LS, Shu WJ, Wu CM, Hsieh CH, Chen SM, Hu CJ, Chen WY, Chung BC.
    Mol Cell Endocrinol; 2006 Apr 25; 249(1-2):16-20. PubMed ID: 16483711
    [Abstract] [Full Text] [Related]

  • 39. 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
    Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, Matsuo N, Brunelli V, Schönle EJ, Zachmann M.
    J Clin Endocrinol Metab; 2000 Mar 25; 85(3):1226-31. PubMed ID: 10720067
    [Abstract] [Full Text] [Related]

  • 40. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
    Biason-Lauber A, Leiberman E, Zachmann M.
    J Clin Endocrinol Metab; 1997 Nov 25; 82(11):3807-12. PubMed ID: 9360545
    [Abstract] [Full Text] [Related]

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