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PUBMED FOR HANDHELDS

Journal Abstract Search


121 related items for PubMed ID: 17288786

  • 1. [Clinical and molecular genetic features of 17alpha-hydroxylase deficiency: study of a case].
    Yang MH, Wu XB, Li T, Wang MY.
    Zhonghua Yi Xue Za Zhi; 2006 Nov 07; 86(41):2900-4. PubMed ID: 17288786
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  • 2. 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 07; 28(7):573-6. PubMed ID: 22452398
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  • 3. 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 07; 91(9):3647-53. PubMed ID: 16822828
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  • 4. Rare hypertension as a result of 17alpha-hydroxylase deficiency.
    Wang W, Fu JF, Gong FQ, Zhu WH, Shen Z.
    J Pediatr Endocrinol Metab; 2011 Sep 07; 24(5-6):333-7. PubMed ID: 21823532
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  • 5. [A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].
    Liang J, Qiao J, Chen X, Wu QQ, Heng H, Zhang T, Zhao JJ, Song HD.
    Zhonghua Nei Ke Za Zhi; 2008 Jun 07; 47(6):482-5. PubMed ID: 19040066
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  • 6. 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 07; 24(133):175-182. PubMed ID: 29278670
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  • 7. 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 07; 172(5):K19-25. PubMed ID: 25650406
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  • 8. 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 07; 29(7):720-3. PubMed ID: 23772786
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  • 10. 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 07; 23(2):125-8. PubMed ID: 16604478
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  • 13. Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
    Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z, Wudy SA.
    Eur J Endocrinol; 2008 Mar 07; 158(3):385-92. PubMed ID: 18299473
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  • 14. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
    Qiao J, Chen X, Zuo CL, Gu YY, Liu BL, Liang J, Lu YL, Tang JF, Wu YX, Chen MD, Chen JL, Wu WL, Song HD.
    Clin Endocrinol (Oxf); 2010 Mar 07; 72(3):312-9. PubMed ID: 19508587
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  • 16. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.
    Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W, Li X.
    J Steroid Biochem Mol Biol; 2015 Jun 07; 150():11-6. PubMed ID: 25697092
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  • 17. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
    Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.
    Sex Dev; 2015 Jun 07; 9(2):91-7. PubMed ID: 25765894
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  • 18. 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 07; 94(8):3058-64. PubMed ID: 19454579
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