These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. [Multiplex minisequencing applied in detection of human functional CYP21 gene mutations]. Tokarska M; Barg E; Wikiera B; Dobosz T; Zołedziewska M; Brzezińska K; Jonkisz A; Kosowska B Pediatr Endocrinol Diabetes Metab; 2007; 13(4):183-6. PubMed ID: 18042312 [TBL] [Abstract][Full Text] [Related]
7. Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization. Speiser PW; White PC; Dupont J; Zhu D; Mercado A; New MI Recent Prog Horm Res; 1994; 49():367-71. PubMed ID: 8146433 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Mao R; Nelson L; Kates R; Miller CE; Donaldson DL; Tang W; Ward K Prenat Diagn; 2002 Dec; 22(13):1171-6. PubMed ID: 12478627 [TBL] [Abstract][Full Text] [Related]
10. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency. Choi JH; Jin HY; Lee BH; Ko JM; Lee JJ; Kim GH; Jung CW; Lee J; Yoo HW Exp Clin Endocrinol Diabetes; 2012 Jan; 120(1):23-7. PubMed ID: 22020670 [TBL] [Abstract][Full Text] [Related]
11. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia. Tsai LP; Cheng CF; Hsieh JP; Teng MS; Lee HH Clin Chim Acta; 2009 Dec; 410(1-2):48-53. PubMed ID: 19778530 [TBL] [Abstract][Full Text] [Related]
12. Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes. Helmberg A; Tabarelli M; Fuchs MA; Keller E; Dobler G; Schnegg I; Knorr D; Albert E; Kofler R DNA Cell Biol; 1992 Jun; 11(5):359-68. PubMed ID: 1605859 [TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction. Owerbach D; Draznin MB; Carpenter RJ; Greenberg F Hum Genet; 1992 Apr; 89(1):109-10. PubMed ID: 1349559 [TBL] [Abstract][Full Text] [Related]
14. The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses. Mao R; McDonald J; Cantwell M; Tang W; Ward K Genet Test; 2005; 9(2):121-5. PubMed ID: 15943551 [TBL] [Abstract][Full Text] [Related]
15. [Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. Luo C; Jiang T; Zhang J; Li L; Sun Y; Liu G; Wang Y; Cheng J; Ma D; Xu Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):832-835. PubMed ID: 30512157 [TBL] [Abstract][Full Text] [Related]
16. CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay. Hong G; Park HD; Choi R; Jin DK; Kim JH; Ki CS; Lee SY; Song J; Kim JW Ann Lab Med; 2015 Sep; 35(5):535-9. PubMed ID: 26206692 [TBL] [Abstract][Full Text] [Related]
17. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization. Oh Y; Park SW; Chun SM; Lim N; Ahn KS; Ka JO; Jin DK; Han BD Mol Diagn Ther; 2009 Dec; 13(6):397-405. PubMed ID: 19925038 [TBL] [Abstract][Full Text] [Related]
18. Mutations in steroid 21-hydroxylase (CYP21). White PC; Tusie-Luna MT; New MI; Speiser PW Hum Mutat; 1994; 3(4):373-8. PubMed ID: 8081391 [TBL] [Abstract][Full Text] [Related]
19. Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification. Rothberg PG; Baker DW; Bradley JF Genet Test; 1998; 2(4):343-6. PubMed ID: 10464614 [TBL] [Abstract][Full Text] [Related]
20. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. Koppens PF; Hoogenboezem T; Degenhart HJ Hum Genet; 2002 Oct; 111(4-5):405-10. PubMed ID: 12384784 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]