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Results: 1 to 20 of 89

1.

Twin genes and endocrine disease: CYP21 and CYP11B genes.

Helmberg A.

Acta Endocrinol (Copenh). 1993 Aug;129(2):97-108. Review.

PMID:
8372604
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
11093272
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
8733045
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
12855227
[PubMed - indexed for MEDLINE]
6.

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.

Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC.

Hum Mol Genet. 1996 Dec;5(12):2039-48.

PMID:
8968761
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
9836705
[PubMed - indexed for MEDLINE]
Free Article
8.
9.

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.

PMID:
12376740
[PubMed - indexed for MEDLINE]
10.

Gene symbol: CYP21A2. Disease: adrenal hyperplasia, CYP21.

Dain L, Minutolo C, Buzzalino N, Belli S, Oneto A, Charreau E, Alba L.

Hum Genet. 2006 Apr;119(3):363. No abstract available.

PMID:
17230657
[PubMed - indexed for MEDLINE]
11.

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.

Wedell A.

Clin Lab Med. 1996 Mar;16(1):125-37. Review.

PMID:
8867587
[PubMed - indexed for MEDLINE]
12.

Polycystic ovarian disease and congenital and late-onset adrenal hyperplasia.

New MI.

Endocrinol Metab Clin North Am. 1988 Dec;17(4):637-48. Review.

PMID:
3058471
[PubMed - indexed for MEDLINE]
13.

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.

Eur J Endocrinol. 2005 Jul;153(1):99-106.

PMID:
15994751
[PubMed - indexed for MEDLINE]
Free Article
14.

[Adrenal enzyme defects and intersexuality].

Schlaghecke R, Kornely E.

Gynakologe. 1995 Feb;28(1):27-32. Review. German. No abstract available.

PMID:
7705712
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
10993720
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
10209571
[PubMed - indexed for MEDLINE]
17.

Prenatal treatment of congenital adrenal hyperplasia. The United States experience.

New MI.

Endocrinol Metab Clin North Am. 2001 Mar;30(1):1-13. Review.

PMID:
11344929
[PubMed - indexed for MEDLINE]
18.

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.

Asanuma A, Ohura T, Ogawa E, Sato S, Igarashi Y, Matsubara Y, Iinuma K.

J Hum Genet. 1999;44(5):312-7.

PMID:
10496074
[PubMed - indexed for MEDLINE]
19.

Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.

Lee HH.

Mol Genet Metab. 2005 Jan;84(1):4-8. Epub 2004 Nov 11. Review.

PMID:
15639189
[PubMed - indexed for MEDLINE]
20.

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.

Koppens PF, Hoogenboezem T, Degenhart HJ.

Hum Genet. 2002 Oct;111(4-5):405-10. Epub 2002 Sep 7.

PMID:
12384784
[PubMed - indexed for MEDLINE]

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