264 related articles for article (PubMed ID: 19508587)
1. 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; 72(3):312-9. PubMed ID: 19508587
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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; 9(2):91-7. PubMed ID: 25765894
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
Wu C; Fan S; Qian Y; Zhou Y; Jin J; Dai Z; Jiang L
Endocr Pract; 2017 May; 23(5):576-582. PubMed ID: 28225307
[TBL] [Abstract][Full Text] [Related]
13. A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency.
Lee LS; Shu WJ; Wu CM; Hsieh CH; Chen SM; Hu CJ; Chen WY; Chung BC
Mol Cell Endocrinol; 2006 Apr; 249(1-2):16-20. PubMed ID: 16483711
[TBL] [Abstract][Full Text] [Related]
14. [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; 47(6):482-5. PubMed ID: 19040066
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
Pang S; Carbunaru G; Haider A; Copeland KC; Chang YT; Lutfallah C; Mason JI
Clin Endocrinol (Oxf); 2003 Mar; 58(3):323-31. PubMed ID: 12608938
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
Chen Y; Wang W; Wang XM; Dong ZY; Xiao Y; Ni JH; Wang DF
Zhonghua Er Ke Za Zhi; 2009 Oct; 47(10):789-91. PubMed ID: 20021817
[TBL] [Abstract][Full Text] [Related]
19. 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]
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]
