131 related articles for article (PubMed ID: 18702679)
1. 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]
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. 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]
4. [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]
5. 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]
6. Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.
Jiang L; Song LL; Wang H; Wang JL; Wang PP; Zhou HB; Zhang XL
J Endocrinol Invest; 2012 May; 35(5):485-9. PubMed ID: 21750395
[TBL] [Abstract][Full Text] [Related]
7. Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L; Yin X; Cheng J; Cai Y; Wu D; Feng Z; Liu L
Clin Chim Acta; 2018 Nov; 486():142-150. PubMed ID: 30048636
[TBL] [Abstract][Full Text] [Related]
8. Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
Oriola J; Bosch MZ; Valls C; Ibáñez L
Horm Res Paediatr; 2011; 76(3):214-7. PubMed ID: 21912141
[TBL] [Abstract][Full Text] [Related]
9. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Abid F; Tardy V; Gaouzi A; El Hessni A; Morel Y; Chabraoui L
Clin Chem Lab Med; 2008; 46(12):1707-13. PubMed ID: 18973462
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
Baradaran-Heravi A; Vakili R; Robins T; Carlsson J; Ghaemi N; A'rabi A; Abbaszadegan MR
Clin Endocrinol (Oxf); 2007 Sep; 67(3):335-41. PubMed ID: 17573904
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Xia Y; Shi P; Gao S; Liu N; Zhang H; Kong X
J Steroid Biochem Mol Biol; 2022 Sep; 222():106156. PubMed ID: 35882282
[TBL] [Abstract][Full Text] [Related]
15. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B; Ökten A; Kalay E; Karagüzel G; Dinçer T; Açıkgöz EG; Karagüzel A
Gene; 2013 Jan; 513(1):202-8. PubMed ID: 23142378
[TBL] [Abstract][Full Text] [Related]
16. Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Kocova M; Concolino P; Falhammar H
Front Endocrinol (Lausanne); 2021; 12():788812. PubMed ID: 35140681
[TBL] [Abstract][Full Text] [Related]
17. Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
Skordis N; Kyriakou A; Tardy V; Ioannou YS; Varvaresou A; Dracopoulou-Vabouli M; Patsalis PC; Shammas C; Neocleous V; Phylactou LA
Horm Res Paediatr; 2011; 75(3):180-6. PubMed ID: 20838032
[TBL] [Abstract][Full Text] [Related]
18. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Wilson RC; Nimkarn S; Dumic M; Obeid J; Azar MR; Najmabadi H; Saffari F; New MI
Mol Genet Metab; 2007 Apr; 90(4):414-21. PubMed ID: 17275379
[TBL] [Abstract][Full Text] [Related]
19. [Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
Gao YJ; Yu BQ; Lu L; Wu XY; Mao JF; Wang X; Tong AL; Chen S; Nie M
Zhonghua Yi Xue Za Zhi; 2020 Mar; 100(8):586-592. PubMed ID: 32164112
[No Abstract] [Full Text] [Related]
20. The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.
Zhao Z; Gao Y; Lu L; Tong A; Chen S; Zhang W; Zhang X; Sun B; Wu X; Mao J; Wang X; Nie M
Front Endocrinol (Lausanne); 2022; 13():1015773. PubMed ID: 36866166
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
