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Journal Abstract Search

179 related items for PubMed ID: 12701064

  • 41. Baboon cytochrome P450 17alpha-hydroxylase/17,20-lyase (CYP17).
    Swart AC, Kolar NW, Lombard N, Mason JI, Swart P.
    Eur J Biochem; 2002 Nov; 269(22):5608-16. PubMed ID: 12423360
    [Abstract] [Full Text] [Related]

  • 42. 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
    [Abstract] [Full Text] [Related]

  • 43. Cytochrome P450 17alpha hydroxylase/17,20 lyase (CYP17) function in cholesterol biosynthesis: identification of squalene monooxygenase (epoxidase) activity associated with CYP17 in Leydig cells.
    Liu Y, Yao ZX, Papadopoulos V.
    Mol Endocrinol; 2005 Jul; 19(7):1918-31. PubMed ID: 15761033
    [Abstract] [Full Text] [Related]

  • 44. Induction of endometrial cycles and ovulation in a woman with combined 17alpha-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene.
    Matsuzaki S, Yanase T, Murakami T, Uehara S, Nawata H, Yajima A.
    Fertil Steril; 2000 Jun; 73(6):1183-6. PubMed ID: 10856480
    [Abstract] [Full Text] [Related]

  • 45. 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]

  • 46. [New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency].
    Tao H, Zhang B, Lu ZL, Pei Y, Mi SH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Feb; 24(1):19-22. PubMed ID: 17285537
    [Abstract] [Full Text] [Related]

  • 47. Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.
    Bee YM, Manju C, Papari-Zareei M, Auchus RJ.
    Gynecol Endocrinol; 2012 Apr; 28(4):322-5. PubMed ID: 22087567
    [Abstract] [Full Text] [Related]

  • 48. 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]

  • 49. A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
    Unal E, Yıldırım R, Taş FF, Tekin S, Ceylaner S, Haspolat YK.
    Gynecol Endocrinol; 2020 Aug; 36(8):739-742. PubMed ID: 31885295
    [Abstract] [Full Text] [Related]

  • 50. Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency.
    Satoh J, Kuroda Y, Nawata H, Yanase T.
    Neurology; 1998 Dec; 51(6):1748-51. PubMed ID: 9855540
    [Abstract] [Full Text] [Related]

  • 51. Rare hypertension as a result of 17alpha-hydroxylase deficiency.
    Wang W, Fu JF, Gong FQ, Zhu WH, Shen Z.
    J Pediatr Endocrinol Metab; 2011 Dec; 24(5-6):333-7. PubMed ID: 21823532
    [Abstract] [Full Text] [Related]

  • 52. 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]

  • 53. Haploinsufficiency of cytochrome P450 17alpha-hydroxylase/17,20 lyase (CYP17) causes infertility in male mice.
    Liu Y, Yao ZX, Bendavid C, Borgmeyer C, Han Z, Cavalli LR, Chan WY, Folmer J, Zirkin BR, Haddad BR, Gallicano GI, Papadopoulos V.
    Mol Endocrinol; 2005 Sep; 19(9):2380-9. PubMed ID: 15890676
    [Abstract] [Full Text] [Related]

  • 54. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
    Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group.
    J Clin Endocrinol Metab; 2004 Jan; 89(1):49-60. PubMed ID: 14715827
    [Abstract] [Full Text] [Related]

  • 55. Functional characterization of mutant CYP17 genes isolated from a 17 alpha-hydroxylase/17,20-lyase-deficient patient.
    Hahm JR, Jung TS, Byun SY, Lee YN, Lee KH, Kim DR.
    Metabolism; 2004 Dec; 53(12):1527-31. PubMed ID: 15562394
    [Abstract] [Full Text] [Related]

  • 56. Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.
    Rumsby G, Skinner C, Lee HA, Honour JW.
    Clin Endocrinol (Oxf); 1993 Oct; 39(4):483-5. PubMed ID: 8287576
    [Abstract] [Full Text] [Related]

  • 57. 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
    [Abstract] [Full Text] [Related]

  • 58. 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; 85(3):1226-31. PubMed ID: 10720067
    [Abstract] [Full Text] [Related]

  • 59. Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.
    Yamagata S, Kageyama K, Usui T, Saito K, Takayasu S, Usutani M, Terui K, Daimon M.
    Endocr J; 2022 Feb 28; 69(2):115-120. PubMed ID: 34483146
    [Abstract] [Full Text] [Related]

  • 60. 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 28; 82(11):3807-12. PubMed ID: 9360545
    [Abstract] [Full Text] [Related]

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