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Journal Abstract Search

164 related items for PubMed ID: 12701064

  • 21. 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; 59(2):275-8. PubMed ID: 19793597
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. [A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
    Jiang Y, Zhang D, Nie M, Xiao XH, Yu Q, Lu ZL.
    Zhonghua Yi Xue Za Zhi; 2011 Sep 13; 91(34):2416-9. PubMed ID: 22321788
    [Abstract] [Full Text] [Related]

  • 25. 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 13; 54(8):744-8. PubMed ID: 21340163
    [Abstract] [Full Text] [Related]

  • 26. New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.
    Xiao H, Zhang H, Li T, Wu D, Qin LT, Wang T, Zhang B, Liao SX.
    Genet Mol Res; 2015 Aug 10; 14(3):9318-24. PubMed ID: 26345865
    [Abstract] [Full Text] [Related]

  • 27. 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 10; 83(1):199-202. PubMed ID: 9435441
    [Abstract] [Full Text] [Related]

  • 28. 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 10; 87(12):5714-21. PubMed ID: 12466376
    [Abstract] [Full Text] [Related]

  • 29. Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
    Shi M, Chen X, Zhou Q, Shen F.
    Gynecol Endocrinol; 2014 Dec 10; 30(12):890-3. PubMed ID: 25027547
    [Abstract] [Full Text] [Related]

  • 30. 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 10; 28(7):573-6. PubMed ID: 22452398
    [Abstract] [Full Text] [Related]

  • 31. 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 10; 28(9):733-5. PubMed ID: 22309630
    [Abstract] [Full Text] [Related]

  • 32. 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 10; 80(8):2526-9. PubMed ID: 7629254
    [Abstract] [Full Text] [Related]

  • 33. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
    Guenego A, Morel Y, Ionesco O, Mallet D, Priou-Guesdon M.
    Ann Endocrinol (Paris); 2015 Feb 10; 76(1):71-4. PubMed ID: 25613935
    [Abstract] [Full Text] [Related]

  • 34. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
    Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.
    Metabolism; 2014 Jan 10; 63(1):42-9. PubMed ID: 24140098
    [Abstract] [Full Text] [Related]

  • 35. 17alpha-hydroxylase deficiency : biochemical and molecular findings in two sisters and their family.
    Perez MS, Benencia H, Frechtel GD, Esteban EO, Gil MC, Targovnik HM, Marquez NB.
    Mol Diagn; 2004 Jan 10; 8(3):171-8. PubMed ID: 15771555
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients.
    Tao H, Lu ZL, Zhang B, Mi SH, Wang NY, Wang XZ, Wu J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Apr 05; 23(2):125-8. PubMed ID: 16604478
    [Abstract] [Full Text] [Related]

  • 38. 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 05; 24(7):362-7. PubMed ID: 18645707
    [Abstract] [Full Text] [Related]

  • 39. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
    Gupta MK, Geller DH, Auchus RJ.
    J Clin Endocrinol Metab; 2001 Sep 05; 86(9):4416-23. PubMed ID: 11549685
    [Abstract] [Full Text] [Related]

  • 40. 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 05; 89(1):43-8. PubMed ID: 14715826
    [Abstract] [Full Text] [Related]

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