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Journal Abstract Search

239 related items for PubMed ID: 16822828

  • 41. 17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood.
    Wolthers OD, Rumsby G, Techatraisak K, Honour JW, Hindmarsh PC.
    Horm Res; 2002; 57(3-4):133-6. PubMed ID: 12006710
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  • 42. 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; 28(6):455-9. PubMed ID: 22103881
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  • 43. 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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  • 44. 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; 54(8):744-8. PubMed ID: 21340163
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  • 45. A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters.
    Espinosa-Herrera F, Espín E, Tito-Álvarez AM, Beltrán LJ, Gómez-Correa D, Burgos G, Llamos A, Zurita C, Rojas S, Dueñas-Espín I, Cueva-Ludeña K, Salazar-Vega J, Pinto-Basto J.
    Gynecol Endocrinol; 2020 Jan; 36(1):24-29. PubMed ID: 31464148
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  • 46. 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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  • 47. CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
    Wang YP, Zhao YJ, Zhou GY, He B.
    Gynecol Endocrinol; 2014 Jun; 30(6):456-60. PubMed ID: 24597476
    [Abstract] [Full Text] [Related]

  • 48. 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
    [Abstract] [Full Text] [Related]

  • 49. Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
    Rubtsov P, Nizhnik A, Dedov I, Kalinchenko N, Petrov V, Orekhova A, Spirin P, Prassolov V, Tiulpakov A.
    Eur J Endocrinol; 2015 May; 172(5):K19-25. PubMed ID: 25650406
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  • 51. Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency.
    Satoh J, Kuroda Y, Nawata H, Yanase T.
    Neurology; 1998 Dec; 51(6):1748-51. PubMed ID: 9855540
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  • 52. 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; 87(12):5714-21. PubMed ID: 12466376
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  • 53. Novel human pathological mutations. Gene symbol: CYP17A1. Disease: 17alpha-hydroxylase/17,20-lyase deficiency.
    Yao F, Qinjie T.
    Hum Genet; 2009 Aug; 126(2):340. PubMed ID: 19694020
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  • 55. 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
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  • 59. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
    Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz HP, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.
    J Clin Endocrinol Metab; 2009 Aug; 94(8):3058-64. PubMed ID: 19454579
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  • 60. 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]

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