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Journal Abstract Search

221 related items for PubMed ID: 11836339

  • 1.
    ; . PubMed ID:
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  • 2. 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]

  • 3. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
    Martin RM, Oliveira PS, Costa EM, Arnhold IJ, Mendonca BB.
    Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1317-20. PubMed ID: 19169487
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  • 4. 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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  • 5. 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 Jul; 55(3):141-6. PubMed ID: 11549876
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  • 6. 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
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  • 8. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec; 43(8):973-9. PubMed ID: 22217842
    [Abstract] [Full Text] [Related]

  • 9. A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP.
    J Clin Endocrinol Metab; 2006 Jun; 91(6):2428-31. PubMed ID: 16569739
    [Abstract] [Full Text] [Related]

  • 10. 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; 91(9):3647-53. PubMed ID: 16822828
    [Abstract] [Full Text] [Related]

  • 11. Seventeen alpha-hydroxylase deficiency.
    Wong SL, Shu SG, Tsai CR.
    J Formos Med Assoc; 2006 Feb; 105(2):177-81. PubMed ID: 16477341
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  • 12. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
    Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB.
    J Clin Endocrinol Metab; 2003 Dec; 88(12):5739-46. PubMed ID: 14671162
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  • 13. 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
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  • 14. 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
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  • 15. 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]

  • 16. 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 05; 59(2):275-8. PubMed ID: 19793597
    [Abstract] [Full Text] [Related]

  • 17. 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 05; 54(6):751-8. PubMed ID: 11422109
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 25; 52(4):488-92. PubMed ID: 12701064
    [Abstract] [Full Text] [Related]

  • 20. 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 25; 21(2):185-90. PubMed ID: 18422032
    [Abstract] [Full Text] [Related]

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