BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 23291414)

  • 1. Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.
    Han B; Liu W; Zuo CL; Zhu H; Li L; Xu C; Wang XJ; Liu BL; Pan CM; Lu YL; Wu WL; Chen MD; Song HD; Cheng KX; Qiao J
    Gene; 2013 Mar; 516(2):345-50. PubMed ID: 23291414
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 150():11-6. PubMed ID: 25697092
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel mutation in CYP17A1 gene.
    Xue LQ; Han B; Chen LB; Pan CM; Zhu H; Liu BL; Liu W; Wu WL; Chen MD; Lu YL; Qiao J; Song HD
    Transl Res; 2013 Jan; 161(1):44-9. PubMed ID: 23036723
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 29(1):10-5. PubMed ID: 22954317
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Revealing a New Homozygous Variant in
    Wang M; Hu X; Xu X; Chen H; Xue J
    Discov Med; 2024 May; 36(184):1012-1019. PubMed ID: 38798260
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 91(9):3619-25. PubMed ID: 16772352
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 185(5):729-741. PubMed ID: 34524979
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency.
    Wang YP; Li J; Li JX; Zhao YJ; Zhang DY
    Metabolism; 2011 Oct; 60(10):1386-91. PubMed ID: 21550081
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Analysis of CYP17A1 gene mutation in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency].
    Yang K; Zhang B; Cui SX; Guo QN; Hou QF; Li QC; Liao SX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Aug; 30(4):439-42. PubMed ID: 23926012
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
    Coeli-Lacchini FB; Mermejo LM; Bodoni AF; Elias LLK; Silva WA; Antonini SR; Moreira AC; de Castro M
    Horm Metab Res; 2020 Mar; 52(3):186-193. PubMed ID: 32215889
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 63(1):42-9. PubMed ID: 24140098
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
    Guo X; Wang H; Xiang Y; Ren X; Jiang S
    Gynecol Endocrinol; 2021 Jan; 37(1):97-100. PubMed ID: 32945709
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
    Han B; Xue L; Fan M; Zhao S; Liu W; Zhu H; Cheng T; Lu Y; Cheng K; Song H; Liu Y; Qiao J
    Endocrine; 2016 Sep; 53(3):784-90. PubMed ID: 27150612
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 28(7):573-6. PubMed ID: 22452398
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 23(2):125-8. PubMed ID: 16604478
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.