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120 related items for PubMed ID: 12706306

  • 1. A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.
    Qiao J, Hu RM, Peng YD, Song HD, Peng YW, Gao GF, Hao JH, Hu NY, Xu MY, Chen JL.
    Mol Cell Endocrinol; 2003 Mar 28; 201(1-2):189-95. PubMed ID: 12706306
    [Abstract] [Full Text] [Related]

  • 2. Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
    Fardella CE, Zhang LH, Mahachoklertwattana P, Lin D, Miller WL.
    J Clin Endocrinol Metab; 1993 Aug 28; 77(2):489-93. PubMed ID: 8345056
    [Abstract] [Full Text] [Related]

  • 3. Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia.
    Uehara S, Sato J, Nishiyama Y, Matsuzaki S, Funato T, Murotsuki J, Yaegashi N, Okamura K, Yajima A.
    Tohoku J Exp Med; 2000 Apr 28; 190(4):279-87. PubMed ID: 10877510
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 25; 102(6):635-9. PubMed ID: 9703423
    [Abstract] [Full Text] [Related]

  • 6. 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 25; 59(2):275-8. PubMed ID: 19793597
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 25; 91(9):3647-53. PubMed ID: 16822828
    [Abstract] [Full Text] [Related]

  • 9. 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 25; 56(4):504-7. PubMed ID: 17379008
    [Abstract] [Full Text] [Related]

  • 10. 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 Apr 25; 55(3):141-6. PubMed ID: 11549876
    [Abstract] [Full Text] [Related]

  • 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 25; 97(3):257-65. PubMed ID: 16176874
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 29(7):720-3. PubMed ID: 23772786
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency.
    Zhou Q, Wu C, Wang L, Zheng J, Zheng C, Jin J, Qian Y, Ni L.
    Gynecol Endocrinol; 2012 Jun 25; 28(6):455-9. PubMed ID: 22103881
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 87(2):898-905. PubMed ID: 11836339
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 87(12):5714-21. PubMed ID: 12466376
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 83(1):199-202. PubMed ID: 9435441
    [Abstract] [Full Text] [Related]

  • 18. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec 25; 43(8):973-9. PubMed ID: 22217842
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 54(6):751-8. PubMed ID: 11422109
    [Abstract] [Full Text] [Related]

  • 20. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
    Gupta MK, Geller DH, Auchus RJ.
    J Clin Endocrinol Metab; 2001 Sep 25; 86(9):4416-23. PubMed ID: 11549685
    [Abstract] [Full Text] [Related]

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