169 related articles for article (PubMed ID: 11093272)
1. 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]
2. Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.
Koppens PF; Hoogenboezem T; Halley DJ; Barendse CA; Oostenbrink AJ; Degenhart HJ
Eur J Pediatr; 1992 Dec; 151(12):885-92. PubMed ID: 1473541
[TBL] [Abstract][Full Text] [Related]
3. Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Lee HH; Niu DM; Lin RW; Chan P; Lin CY
J Hum Genet; 2002; 47(10):517-22. PubMed ID: 12376740
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
Lee HH
Mol Genet Metab; 2005 Jan; 84(1):4-8. PubMed ID: 15639189
[TBL] [Abstract][Full Text] [Related]
6. Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
Jiddou RR; Wei WL; Sane KS; Killeen AA
Clin Chem; 1999 May; 45(5):625-9. PubMed ID: 10222348
[TBL] [Abstract][Full Text] [Related]
7. The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.
Lee HH
J Hum Genet; 2004; 49(2):65-72. PubMed ID: 14730433
[TBL] [Abstract][Full Text] [Related]
8. Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
Lee HH; Chang SF; Tsai FJ; Tsai LP; Lin CY
J Clin Endocrinol Metab; 2003 Jun; 88(6):2726-9. PubMed ID: 12788880
[TBL] [Abstract][Full Text] [Related]
9. Diversity of the CYP21P-like gene in CYP21 deficiency.
Lee HH
DNA Cell Biol; 2005 Jan; 24(1):1-9. PubMed ID: 15684714
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Levo A; Partanen J
Hum Genet; 1997 Apr; 99(4):488-97. PubMed ID: 9099839
[TBL] [Abstract][Full Text] [Related]
12. Organization of C4 and CYP21 loci in gorilla and orangutan.
Kawaguchi H; Klein J
Hum Immunol; 1992 Mar; 33(3):153-62. PubMed ID: 1618655
[TBL] [Abstract][Full Text] [Related]
13. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.
Collier S; Sinnott PJ; Dyer PA; Price DA; Harris R; Strachan T
EMBO J; 1989 May; 8(5):1393-402. PubMed ID: 2788573
[TBL] [Abstract][Full Text] [Related]
14. Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Lee HH; Chang JG; Tsai CH; Tsai FJ; Chao HT; Chung B
Clin Chem; 2000 May; 46(5):606-11. PubMed ID: 10794740
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
Krone N; Braun A; Roscher AA; Schwarz HP
Hum Mutat; 1999; 14(1):90-1. PubMed ID: 10447270
[TBL] [Abstract][Full Text] [Related]
18. Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
Koppens PF; Hoogenboezem T; Drop SL; de Muinck-Keizer-Schrama SM; Degenhart HJ
Clin Endocrinol (Oxf); 1998 Dec; 49(6):815-22. PubMed ID: 10209571
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
L'Allemand D; Tardy V; Grüters A; Schnabel D; Krude H; Morel Y
J Clin Endocrinol Metab; 2000 Dec; 85(12):4562-7. PubMed ID: 11134109
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
