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Journal Abstract Search

287 related items for PubMed ID: 18299473

  • 1. Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
    Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z, Wudy SA.
    Eur J Endocrinol; 2008 Mar; 158(3):385-92. PubMed ID: 18299473
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  • 2. 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
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  • 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 11; 59(2):275-8. PubMed ID: 19793597
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  • 4. 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 11; 28(7):573-6. PubMed ID: 22452398
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  • 5. 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
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  • 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 05; 24(133):175-182. PubMed ID: 29278670
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  • 7. 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
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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 05; 29(7):720-3. PubMed ID: 23772786
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  • 10. 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 05; 172(5):K19-25. PubMed ID: 25650406
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  • 11. 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 05; 97(3):257-65. PubMed ID: 16176874
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  • 12. An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Küçükemre-Aydın B, Öğrendil-Yanar Ö, Bilge I, Baş F, Poyrazoğlu Ş, Yılmaz A, Emre S, Bundak R, Saka N, Darendeliler F.
    Turk J Pediatr; 2015 Nov 05; 57(3):277-81. PubMed ID: 26701948
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  • 15. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec 05; 43(8):973-9. PubMed ID: 22217842
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  • 16. 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 05; 90(7):4362-5. PubMed ID: 15811924
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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 05; 150():11-6. PubMed ID: 25697092
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