BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 25697092)

  • 21. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
    Kurnaz E; Kartal Baykan E; Türkyılmaz A; Yaralı O; Yavaş Abalı Z; Turan S; Bereket A; Çayır A; Guran T
    Horm Res Paediatr; 2020; 93(9-10):558-566. PubMed ID: 33780934
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Rare hypertension as a result of 17alpha-hydroxylase deficiency.
    Wang W; Fu JF; Gong FQ; Zhu WH; Shen Z
    J Pediatr Endocrinol Metab; 2011; 24(5-6):333-7. PubMed ID: 21823532
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.
    Keskin M; Uğurlu AK; Savaş-Erdeve Ş; Sağsak E; Akyüz SG; Çetinkaya S; Aycan Z
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):919-21. PubMed ID: 25719302
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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; 91(9):3647-53. PubMed ID: 16822828
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Rosa S; Steigert M; Lang-Muritano M; l'Allemand D; Schoenle EJ; Biason-Lauber A
    Horm Res Paediatr; 2010; 73(3):198-204. PubMed ID: 20197673
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
    Auchus RJ
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):71-78. PubMed ID: 26862015
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.
    Nájera N; Garibay N; Pastrana Y; Palma I; Peña YR; Pérez J; Coyote N; Hidalgo A; Kofman-Alfaro S; Queipo G
    Endocr Pathol; 2009; 20(4):249-55. PubMed ID: 19728179
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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; 158(3):385-92. PubMed ID: 18299473
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A; Liko I; Varga I; Gergics P; Boros A; Futo L; Kun I; Bertalan R; Toth S; Pazmany T; Toth M; Szücs N; Horanyi J; Glaz E; Racz K
    J Steroid Biochem Mol Biol; 2005 Nov; 97(3):257-65. PubMed ID: 16176874
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.
    Xia Y; Shi P; Xia J; Zhang H; Xu L; Kong X
    Steroids; 2021 Sep; 173():108873. PubMed ID: 34097983
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
    Liu BL; Qiao J; Chen X; Liang J; Zuo CL; Gu YY; Han B; Gong J; Ru Y; Lu YL; Wu WL; Chen MD; Song HD
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):282-7. PubMed ID: 19504440
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
    Bao X; Ding H; Xu Y; Cui G; He Y; Yu X; Wang DW
    Clin Chim Acta; 2011 Jun; 412(13-14):1240-3. PubMed ID: 21420394
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.