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Journal Abstract Search

127 related items for PubMed ID: 15713706

  • 1. Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.
    Taniyama M, Tanabe M, Saito H, Ban Y, Nawata H, Yanase T.
    J Clin Endocrinol Metab; 2005 May; 90(5):2508-11. PubMed ID: 15713706
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  • 2. 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
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  • 3. 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
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  • 6. Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
    Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.
    J Clin Endocrinol Metab; 2002 Feb; 87(2):898-905. PubMed ID: 11836339
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  • 7. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
    Tian Q, Zhang Y, Lu Z.
    Gynecol Endocrinol; 2008 Jul; 24(7):362-7. PubMed ID: 18645707
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  • 9. 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
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  • 10. 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
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  • 11. 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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  • 12. 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 Oct 11; 55(3):141-6. PubMed ID: 11549876
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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 11; 54(6):751-8. PubMed ID: 11422109
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  • 14. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
    Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH.
    J Clin Endocrinol Metab; 2002 Dec 11; 87(12):5714-21. PubMed ID: 12466376
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  • 15. Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
    Costenaro F, Rodrigues TC, Kater CE, Auchus RJ, Papari-Zareei M, Czepielewski MA.
    Arq Bras Endocrinol Metabol; 2010 Nov 11; 54(8):744-8. PubMed ID: 21340163
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  • 16. Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.
    Escamilla-Márquez MA, Garduño-Garcia Jde J, Ordóñez-Sanchez ML, Reza-Albarrán A, Tusie-Luna MT, Gómez Pérez FJ, Aguilar-Salinas CA.
    Gynecol Endocrinol; 2012 Sep 11; 28(9):733-5. PubMed ID: 22309630
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  • 17. 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
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  • 18. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
    Zhang Y, Yuan Y.
    Medicine (Baltimore); 2023 Dec 29; 102(52):e36727. PubMed ID: 38206738
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  • 19. 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 29; 82(6):1934-8. PubMed ID: 9177409
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