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Results: 1 to 20 of 26

1.

Prenatal diagnosis and treatment of 21-hydroxylase deficiency.

Forest MG, David M, Morel Y.

J Steroid Biochem Mol Biol. 1993 Apr;45(1-3):75-82. Review.

PMID:
8481354
[PubMed - indexed for MEDLINE]
2.
3.

21-hydroxylase deficiency congenital adrenal hyperplasia.

New MI.

J Steroid Biochem Mol Biol. 1994 Jan;48(1):15-22. Review.

PMID:
8136301
[PubMed - indexed for MEDLINE]
4.

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.

Wedell A, Stengler B, Luthman H.

Hum Genet. 1994 Jul;94(1):50-4.

PMID:
8034294
[PubMed - indexed for MEDLINE]
5.

Recent advances in 21-hydroxylase deficiency.

New MI, Levine LS.

Annu Rev Med. 1984;35:649-63. Review.

PMID:
6372675
[PubMed - indexed for MEDLINE]
6.

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.

White PC, New MI, Dupont B.

Proc Natl Acad Sci U S A. 1984 Dec;81(23):7505-9.

PMID:
6334310
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

Carroll MC, Campbell RD, Porter RR.

Proc Natl Acad Sci U S A. 1985 Jan;82(2):521-5.

PMID:
3871526
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

Matteson KJ, Phillips JA 3rd, Miller WL, Chung BC, Orlando PJ, Frisch H, Ferrandez A, Burr IM.

Proc Natl Acad Sci U S A. 1987 Aug;84(16):5858-62. Erratum in: Proc Natl Acad Sci U S A 1987 Nov;84(22):8054.

PMID:
3497399
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Structure of human steroid 21-hydroxylase genes.

White PC, New MI, Dupont B.

Proc Natl Acad Sci U S A. 1986 Jul;83(14):5111-5.

PMID:
3487786
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y.

Proc Natl Acad Sci U S A. 1986 May;83(9):2841-5.

PMID:
3486422
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Molecular and clinical advances in congenital adrenal hyperplasia.

Miller WL, Levine LS.

J Pediatr. 1987 Jul;111(1):1-17. Review. No abstract available.

PMID:
3298591
[PubMed - indexed for MEDLINE]
12.

Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.

Miller WL.

Am J Hum Genet. 1988 Jan;42(1):4-7. Review. No abstract available.

PMID:
3276177
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.

Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD.

EMBO J. 1987 Jun;6(6):1653-61.

PMID:
3038528
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.

Carroll MC, Palsdottir A, Belt KT, Porter RR.

EMBO J. 1985 Oct;4(10):2547-52.

PMID:
2996881
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y.

Am J Hum Genet. 1988 Jan;42(1):17-25.

PMID:
2827462
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Modification of enzymatically amplified DNA for the detection of point mutations.

Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A.

Nucleic Acids Res. 1989 May 11;17(9):3606. No abstract available.

PMID:
2726503
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
2325662
[PubMed - indexed for MEDLINE]
18.

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

Chiou SH, Hu MC, Chung BC.

J Biol Chem. 1990 Feb 25;265(6):3549-52.

PMID:
2303461
[PubMed - indexed for MEDLINE]
Free Article
19.

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.

Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC.

Mol Endocrinol. 1991 May;5(5):685-92.

PMID:
2072928
[PubMed - indexed for MEDLINE]
20.

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Mornet E, Crété P, Kuttenn F, Raux-Demay MC, Boué J, White PC, Boué A.

Am J Hum Genet. 1991 Jan;48(1):79-88.

PMID:
1985465
[PubMed - indexed for MEDLINE]
Free PMC Article
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