129 related articles for article (PubMed ID: 9101299)
1. Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.
Levo A; Partanen J
Hum Mutat; 1997; 9(4):363-5. PubMed ID: 9101299
[No Abstract] [Full Text] [Related]
2. E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Kirby-Keyser L; Porter CC; Donohoue PA
Hum Mutat; 1997; 9(2):181-2. PubMed ID: 9067760
[No Abstract] [Full Text] [Related]
3. 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]
4. An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
Lajic S; Wedell A
Hum Genet; 1996 Aug; 98(2):182-4. PubMed ID: 8698338
[TBL] [Abstract][Full Text] [Related]
5. [Gene defects in congenital adrenal hyperplasia in Finnish patients].
Partanen J; Narko K
Duodecim; 1993; 109(6):512-7. PubMed ID: 8062719
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. Commentary: molecular analysis of congenital adrenal hyperplasia in a newborn screening program.
Killeen AA
Mol Diagn; 2001 Sep; 6(3):189-91. PubMed ID: 11571712
[No Abstract] [Full Text] [Related]
9. Nonsense mutation causing steroid 21-hydroxylase deficiency.
Globerman H; Amor M; Parker KL; New MI; White PC
J Clin Invest; 1988 Jul; 82(1):139-44. PubMed ID: 3267225
[TBL] [Abstract][Full Text] [Related]
10. PCR based diagnosis of 21-hydroxylase gene defects in Slovak patients with congenital adrenal hyperplasia.
Pinterova L; Garami M; Pribilincova Z; Behulova R; Mezenska R; Lukacova M; Zorad S
Endocr Regul; 2000 Jun; 34(2):65-72. PubMed ID: 10911407
[TBL] [Abstract][Full Text] [Related]
11. Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.
Partanen J; Campbell RD
Hum Genet; 1991 Oct; 87(6):716-20. PubMed ID: 1937474
[TBL] [Abstract][Full Text] [Related]
12. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
Ferenczi A; Garami M; Kiss E; Pék M; Sasvári-Székely M; Barta C; Staub M; Sólyom J; Fekete G
J Clin Endocrinol Metab; 1999 Jul; 84(7):2369-72. PubMed ID: 10404805
[TBL] [Abstract][Full Text] [Related]
13. Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia.
Dawkins RL; Martin E; Kay PH; Garlepp MJ; Wilton AN; Stuckey MS
J Immunogenet; 1987; 14(2-3):89-98. PubMed ID: 2891769
[TBL] [Abstract][Full Text] [Related]
14. A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
Kapelari K; Ghanaati Z; Wollmann H; Ventz M; Ranke MB; Kofler R; Peters H
Hum Mutat; 1999; 13(6):505. PubMed ID: 10408786
[TBL] [Abstract][Full Text] [Related]
15. Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Oriola J; Plensa I; Machuca I; Pavía C; Rivera-Fillat F
Clin Chem; 1997 Apr; 43(4):557-61. PubMed ID: 9105254
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Witchel SF; Bhamidipati DK; Hoffman EP; Cohen JB
J Clin Endocrinol Metab; 1996 Nov; 81(11):4081-8. PubMed ID: 8923864
[TBL] [Abstract][Full Text] [Related]
17. CYPs, SNPs, and molecular diagnosis in the postgenomic era.
Vilain E
Clin Chem; 1998 Dec; 44(12):2403-4. PubMed ID: 9836703
[No Abstract] [Full Text] [Related]
18. 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]
19. Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Theodoropoulou M; Barta C; Szoke M; Guttman A; Staub M; Niederland T; Sólyom J; Fekete G; Sasvari-Szekely M
Fetal Diagn Ther; 2001; 16(4):237-40. PubMed ID: 11399887
[TBL] [Abstract][Full Text] [Related]
20. Rapid single nucleotide polymorphism analysis by primer extension and capillary electrophoresis using polyvinyl pyrrolidone matrix.
Barta C; Ronai Z; Sasvari-Szekely M; Guttman A
Electrophoresis; 2001; 22(4):779-82. PubMed ID: 11296934
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
