179 related articles for article (PubMed ID: 8530065)
1. Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Day DJ; Speiser PW; White PC; Barany F
Genomics; 1995 Sep; 29(1):152-62. PubMed ID: 8530065
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
Tusié-Luna MT; White PC
Proc Natl Acad Sci U S A; 1995 Nov; 92(23):10796-800. PubMed ID: 7479886
[TBL] [Abstract][Full Text] [Related]
4. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Wedell A
Clin Lab Med; 1996 Mar; 16(1):125-37. PubMed ID: 8867587
[TBL] [Abstract][Full Text] [Related]
5. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Helmberg A; Tusie-Luna MT; Tabarelli M; Kofler R; White PC
Mol Endocrinol; 1992 Aug; 6(8):1318-22. PubMed ID: 1406709
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White PC; Speiser PW
Endocr Rev; 2000 Jun; 21(3):245-91. PubMed ID: 10857554
[TBL] [Abstract][Full Text] [Related]
8. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
Owerbach D; Ballard AL; Draznin MB
J Clin Endocrinol Metab; 1992 Mar; 74(3):553-8. PubMed ID: 1740489
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Tajima T; Fujieda K; Nakayama K; Fujii-Kuriyama Y
J Clin Invest; 1993 Nov; 92(5):2182-90. PubMed ID: 8227333
[TBL] [Abstract][Full Text] [Related]
10. Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Lee HH; de Wijs IJ; Sistermans EA
Mol Genet Metab; 2000 Aug; 70(4):322-4. PubMed ID: 10993720
[TBL] [Abstract][Full Text] [Related]
11. A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
Tukel T; Uyguner O; Wei JQ; Yuksel-Apak M; Saka N; Song DX; Kayserili H; Bas F; Gunoz H; Wilson RC; New MI; Wollnik B
J Clin Endocrinol Metab; 2003 Dec; 88(12):5893-7. PubMed ID: 14671187
[TBL] [Abstract][Full Text] [Related]
12. CYP21 mutations and congenital adrenal hyperplasia.
Lee HH
Clin Genet; 2001 May; 59(5):293-301. PubMed ID: 11359457
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
Lee HH; Chao HT; Ng HT; Choo KB
J Med Genet; 1996 May; 33(5):371-5. PubMed ID: 8733045
[TBL] [Abstract][Full Text] [Related]
15. Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
Owerbach D; Crawford YM; Draznin MB
Mol Endocrinol; 1990 Jan; 4(1):125-31. PubMed ID: 2325662
[TBL] [Abstract][Full Text] [Related]
16. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Coeli FB; Soardi FC; Bernardi RD; de Araújo M; Paulino LC; Lau IF; Petroli RJ; de Lemos-Marini SH; Baptista MT; Guerra-Júnior G; de-Mello MP
BMC Med Genet; 2010 Jun; 11():104. PubMed ID: 20587039
[TBL] [Abstract][Full Text] [Related]
17. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
Nunez BS; Lobato MN; White PC; Meseguer A
Biochem Biophys Res Commun; 1999 Sep; 262(3):635-7. PubMed ID: 10471376
[TBL] [Abstract][Full Text] [Related]
18. CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
Koppens PF; Hoogenboezem T; Degenhart HJ
Eur J Hum Genet; 2000 Nov; 8(11):827-36. PubMed ID: 11093272
[TBL] [Abstract][Full Text] [Related]
19. Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
Lee HH; Chang SF; Lo FS; Chao HT; Lin CY
Mol Genet Metab; 2003 Jul; 79(3):214-20. PubMed ID: 12855227
[TBL] [Abstract][Full Text] [Related]
20. Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Usui T; Nishisho K; Kaji M; Ikuno N; Yorifuji T; Yasuda T; Kuzuya H; Shimatsu A
Horm Res; 2004; 61(3):126-32. PubMed ID: 14676460
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
