154 related articles for article (PubMed ID: 9799085)
1. Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.
Lee HH; Chao HT; Lee YJ; Shu SG; Chao MC; Kuo JM; Chung BC
Hum Genet; 1998 Sep; 103(3):304-10. PubMed ID: 9799085
[TBL] [Abstract][Full Text] [Related]
2. Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
Wang HH; Lee HH; Wu DA; Lee YJ; Chung BC; Wang TR
Acta Paediatr Taiwan; 2003; 44(6):339-42. PubMed ID: 14983655
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Bobba A; Iolascon A; Giannattasio S; Albrizio M; Sinisi A; Prisco F; Schettini F; Marra E
J Med Genet; 1997 Mar; 34(3):223-8. PubMed ID: 9132494
[TBL] [Abstract][Full Text] [Related]
5. CYP21 mutations and congenital adrenal hyperplasia.
Lee HH
Clin Genet; 2001 May; 59(5):293-301. PubMed ID: 11359457
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Delague V; Souraty N; Khallouf E; Tardy V; Chouery E; Halaby G; Loiselet J; Morel Y; Mégarbané A
Horm Res; 2000; 53(2):77-82. PubMed ID: 10971093
[TBL] [Abstract][Full Text] [Related]
11. CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
Witchel SF; Smith R; Crivellaro CE; Della Manna T; Dichtchekenian V; Setian N; Damiani D
Hum Genet; 2000 Apr; 106(4):414-9. PubMed ID: 10830908
[TBL] [Abstract][Full Text] [Related]
12. A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.
Kharrat M; Tardy V; M'rad R; Maazoul F; Morel Y; Chaabouni H
Diagn Mol Pathol; 2005 Dec; 14(4):250-2. PubMed ID: 16319697
[TBL] [Abstract][Full Text] [Related]
13. Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Krone N; Riepe FG; Partsch CJ; Vorhoff W; Brämswig J; Sippell WG
Exp Clin Endocrinol Diabetes; 2006 Mar; 114(3):111-7. PubMed ID: 16636976
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
Killeen AA; Jiddou RR; Sane KS
Clin Chem; 1998 Dec; 44(12):2410-5. PubMed ID: 9836705
[TBL] [Abstract][Full Text] [Related]
16. Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
Manfras BJ; Swinyard M; Rudert WA; Ball EJ; Lee PA; Kühnl P; Trucco M; Böhm BO
Hum Genet; 1993 Aug; 92(1):33-9. PubMed ID: 8365724
[TBL] [Abstract][Full Text] [Related]
17. Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
Zeng X; Witchel SF; Dobrowolski SF; Moulder PV; Jarvik JW; Telmer CA
Mol Genet Metab; 2004 May; 82(1):38-47. PubMed ID: 15110320
[TBL] [Abstract][Full Text] [Related]
18. Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
Witchel SF; Smith R; Suda-Hartman M
Hum Mutat; 1999; 13(2):172. PubMed ID: 10094562
[TBL] [Abstract][Full Text] [Related]
19. Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
Loke KY; Lee YS; Lee WW; Poh LK
Horm Res; 2001; 55(4):179-84. PubMed ID: 11598371
[TBL] [Abstract][Full Text] [Related]
20. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
Liao XY; Zhang YF; Gu XF
Zhonghua Er Ke Za Zhi; 2003 Sep; 41(9):670-4. PubMed ID: 14733808
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
