116 related articles for article (PubMed ID: 32761585)
1. [Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].
Huang S; Su Z; Zhang L; Zhao X; Wen P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):815-818. PubMed ID: 32761585
[TBL] [Abstract][Full Text] [Related]
2. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
Araújo RS; Mendonca BB; Barbosa AS; Lin CJ; Marcondes JA; Billerbeck AE; Bachega TA
J Clin Endocrinol Metab; 2007 Oct; 92(10):4028-34. PubMed ID: 17666484
[TBL] [Abstract][Full Text] [Related]
3. Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
Zhang HJ; Yang J; Zhang MN; Zhang W; Liu JM; Wang WQ; Ning G; Li XY
Clin Endocrinol (Oxf); 2009 Feb; 70(2):201-7. PubMed ID: 18702679
[TBL] [Abstract][Full Text] [Related]
4. Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
Araujo RS; Billerbeck AE; Madureira G; Mendonca BB; Bachega TA
Clin Endocrinol (Oxf); 2005 Feb; 62(2):132-6. PubMed ID: 15670187
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C; Jia W; Cheng X; Ying H; Chen J; Xu J; Guan Q; Zhou X; Zheng D; Li G; Zhao J
Mol Genet Genomic Med; 2019 Jun; 7(6):e671. PubMed ID: 30968594
[TBL] [Abstract][Full Text] [Related]
6. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
[TBL] [Abstract][Full Text] [Related]
7. The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
Gao Y; Yu B; Mao J; Wang X; Nie M; Wu X
Endocrine; 2020 Mar; 67(3):665-672. PubMed ID: 31605362
[TBL] [Abstract][Full Text] [Related]
8. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.
Lee HH; Tsai FJ; Lee YJ; Yang YC
Mol Genet Metab; 2006 Aug; 88(4):372-7. PubMed ID: 16684614
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
Liu J; Zhang X; Zhang H; Fang L; Xu J; Guan Q; Xu C
Mol Med Rep; 2018 Mar; 17(3):4265-4272. PubMed ID: 29328376
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
Dumic KK; Grubic Z; Yuen T; Wilson RC; Kusec V; Barisic I; Stingl K; Sansovic I; Skrabic V; Dumic M; New MI
J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):51-56. PubMed ID: 27041116
[TBL] [Abstract][Full Text] [Related]
11. Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Guarnotta V; Niceta M; Bono M; Marchese S; Fabiano C; Indelicato S; Di Gaudio F; Garofalo P; Giordano C
J Steroid Biochem Mol Biol; 2020 Apr; 198():105554. PubMed ID: 31805392
[TBL] [Abstract][Full Text] [Related]
12. Differences in hormonal levels between heterozygous
Silva RS; Carvalho B; Pedro J; Castro-Correia C; Carvalho D; Carvalho F; Fontoura M
Arch Endocrinol Metab; 2022 Apr; 66(2):168-175. PubMed ID: 35289513
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency].
Zheng R; Zhang L; Yuan Q; Man H; Yang J; Wang Y; Hu Z; Zhang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb; 36(2):120-123. PubMed ID: 30703227
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].
Zheng R; Zhao Z; Wang Y; Yuan H; Wang S; Su Y; Ma Y; Hu Z; Tian R; Wang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):289-93. PubMed ID: 24928004
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive genotyping of Turkish women with hirsutism.
Polat S; Karaburgu S; Ünlühizarcı K; Dündar M; Özkul Y; Arslan YK; Karaca Z; Kelestimur F
J Endocrinol Invest; 2019 Sep; 42(9):1077-1087. PubMed ID: 30811025
[TBL] [Abstract][Full Text] [Related]
16. Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
Costa S; Sampaio L; Berta Sousa A; Xing C; Agarwal AK; Garg A
J Clin Endocrinol Metab; 2022 Aug; 107(9):2433-2438. PubMed ID: 35857714
[TBL] [Abstract][Full Text] [Related]
17. The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
Livadas S; Dracopoulou M; Dastamani A; Sertedaki A; Maniati-Christidi M; Magiakou AM; Kanaka-Gantenbein C; Chrousos GP; Dacou-Voutetakis C
Clin Endocrinol (Oxf); 2015 Apr; 82(4):543-9. PubMed ID: 25041270
[TBL] [Abstract][Full Text] [Related]
18. Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Kor Y; Zou M; Al-Rijjal RA; Monies D; Meyer BF; Shi Y
BMC Med Genet; 2018 Jul; 19(1):115. PubMed ID: 29996815
[TBL] [Abstract][Full Text] [Related]
19. Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Fernández CS; Bruque CD; Taboas M; Buzzalino ND; Espeche LD; Pasqualini T; Charreau EH; Alba LG; Ghiringhelli PD; Dain L
Endocrine; 2015 Sep; 50(1):72-8. PubMed ID: 26184415
[TBL] [Abstract][Full Text] [Related]
20. High carrier frequency of 21-hydroxylase deficiency in Cyprus.
Phedonos AA; Shammas C; Skordis N; Kyriakides TC; Neocleous V; Phylactou LA
Clin Genet; 2013 Dec; 84(6):585-8. PubMed ID: 23600966
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
