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Journal Abstract Search

152 related items for PubMed ID: 22321788

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  • 2. 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; 29(7):720-3. PubMed ID: 23772786
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  • 3. 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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  • 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; 59(2):275-8. PubMed ID: 19793597
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  • 8. 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
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  • 12. Two novel heterozygous mutations in the CYP17A1 gene in a Chinese patient with 17α-hydroxylase 17,20-lyase deficiency.
    Sun X, Li M, Wang Y, Bi Y.
    Discov Med; 2018 Dec 10; 26(145):243-249. PubMed ID: 30695673
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  • 13. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
    Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X.
    J Clin Endocrinol Metab; 2006 Sep 10; 91(9):3619-25. PubMed ID: 16772352
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  • 14. 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
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  • 15. CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.
    Yao F, Huang S, Kang X, Zhang W, Wang P, Tian Q.
    Gynecol Endocrinol; 2013 Jan 10; 29(1):10-5. PubMed ID: 22954317
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  • 16. 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 Jan 10; 9(2):91-7. PubMed ID: 25765894
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  • 17. 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 10; 72(3):312-9. PubMed ID: 19508587
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  • 18. The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
    Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T'Sjoen G, Denvir L, Shenoy S, Fulton P, Cheetham TD, Gleeson H, Rahman M, Krone NP, Taylor NF, Shackleton CHL, Arlt W, Idkowiak J.
    Eur J Endocrinol; 2021 Oct 11; 185(5):729-741. PubMed ID: 34524979
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  • 19. Rare hypertension as a result of 17alpha-hydroxylase deficiency.
    Wang W, Fu JF, Gong FQ, Zhu WH, Shen Z.
    J Pediatr Endocrinol Metab; 2011 Oct 11; 24(5-6):333-7. PubMed ID: 21823532
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  • 20. 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 11; 56(4):504-7. PubMed ID: 17379008
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