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Journal Abstract Search

89 related items for PubMed ID: 7629254

  • 1. Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene.
    Oshiro C, Takasu N, Wakugami T, Komiya I, Yamada T, Eguchi Y, Takei H.
    J Clin Endocrinol Metab; 1995 Aug; 80(8):2526-9. PubMed ID: 7629254
    [Abstract] [Full Text] [Related]

  • 2. 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; 82(6):1934-8. PubMed ID: 9177409
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency.
    Monno S, Mizushima Y, Toyoda N, Kashii T, Kobayashi M.
    Ann Hum Genet; 1997 May; 61(Pt 3):275-9. PubMed ID: 9250356
    [Abstract] [Full Text] [Related]

  • 5. Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Bhangoo A, Aisenberg J, Chartoffe A, Ten S, Wallerstein RJ, Wolf R, Auchus RJ.
    J Pediatr Endocrinol Metab; 2008 Feb; 21(2):185-90. PubMed ID: 18422032
    [Abstract] [Full Text] [Related]

  • 6. Seventeen alpha-hydroxylase deficiency.
    Wong SL, Shu SG, Tsai CR.
    J Formos Med Assoc; 2006 Feb; 105(2):177-81. PubMed ID: 16477341
    [Abstract] [Full Text] [Related]

  • 7. Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells.
    Costa-Santos M, Kater CE, Dias EP, Auchus RJ.
    J Clin Endocrinol Metab; 2004 Jan; 89(1):43-8. PubMed ID: 14715826
    [Abstract] [Full Text] [Related]

  • 8. Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency.
    Yamaguchi H, Nakazato M, Miyazato M, Toshimori H, Oki S, Shimizu K, Suiko M, Kangawa K, Matsukura S.
    Hum Genet; 1998 Jun; 102(6):635-9. PubMed ID: 9703423
    [Abstract] [Full Text] [Related]

  • 9. Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
    Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR.
    Mol Endocrinol; 1991 Dec; 5(12):2037-45. PubMed ID: 1665206
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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; 83(1):199-202. PubMed ID: 9435441
    [Abstract] [Full Text] [Related]

  • 12. 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; 56(4):504-7. PubMed ID: 17379008
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. 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; 54(6):751-8. PubMed ID: 11422109
    [Abstract] [Full Text] [Related]

  • 16. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.
    Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR.
    J Clin Endocrinol Metab; 1990 May; 70(5):1325-9. PubMed ID: 2335573
    [Abstract] [Full Text] [Related]

  • 17. Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.
    Monno S, Ogawa H, Date T, Fujioka M, Miller WL, Kobayashi M.
    J Biol Chem; 1993 Dec 05; 268(34):25811-7. PubMed ID: 8245018
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 91(10):4179-82. PubMed ID: 16849412
    [Abstract] [Full Text] [Related]

  • 19. Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.
    Miura K, Yasuda K, Yanase T, Yamakita N, Sasano H, Nawata H, Inoue M, Fukaya T, Shizuta Y.
    J Clin Endocrinol Metab; 1996 Oct 05; 81(10):3797-801. PubMed ID: 8855840
    [Abstract] [Full Text] [Related]

  • 20. 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]

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