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Results: 1 to 20 of 101

1.

Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

Nikoshkov A, Lajic S, Holst M, Wedell A, Luthman H.

J Clin Endocrinol Metab. 1997 Jan;82(1):194-9.

PMID:
8989258
[PubMed - indexed for MEDLINE]
2.

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.

Lajic S, Levo A, Nikoshkov A, Lundberg Y, Partanen J, Wedell A.

Hum Genet. 1997 Jun;99(6):704-9.

PMID:
9187661
[PubMed - indexed for MEDLINE]
3.

Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.

Nunez BS, Lobato MN, White PC, Meseguer A.

Biochem Biophys Res Commun. 1999 Sep 7;262(3):635-7.

PMID:
10471376
[PubMed - indexed for MEDLINE]
4.

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.

Barbaro M, Baldazzi L, Balsamo A, Lajic S, Robins T, Barp L, Pirazzoli P, Cacciari E, Cicognani A, Wedell A.

J Mol Med (Berl). 2006 Jun;84(6):521-8. Epub 2006 Mar 16.

PMID:
16541276
[PubMed - indexed for MEDLINE]
5.

Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.

Nikoshkov A, Lajic S, Vlamis-Gardikas A, Tranebjaerg L, Holst M, Wedell A, Luthman H.

J Biol Chem. 1998 Mar 13;273(11):6163-5.

PMID:
9497336
[PubMed - indexed for MEDLINE]
Free Article
6.

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.

Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC.

Mol Endocrinol. 1992 Aug;6(8):1318-22.

PMID:
1406709
[PubMed - indexed for MEDLINE]
7.

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

Barbaro M, Lajic S, Baldazzi L, Balsamo A, Pirazzoli P, Cicognani A, Wedell A, Cacciari E.

J Clin Endocrinol Metab. 2004 May;89(5):2402-7.

PMID:
15126570
[PubMed - indexed for MEDLINE]
8.

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.

Wedell A, Luthman H.

Hum Genet. 1993 Apr;91(3):236-40.

PMID:
8478006
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
16636976
[PubMed - indexed for MEDLINE]
10.

CYP21 mutations in simple virilizing congenital adrenal hyperplasia.

Lajić S, Robins T, Krone N, Schwarz HP, Wedell A.

J Mol Med (Berl). 2001 Oct;79(10):581-6.

PMID:
11692155
[PubMed - indexed for MEDLINE]
11.

Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.

Ohlsson G, Müller J, Skakkebaek NE, Schwartz M.

Hum Mutat. 1999;13(6):482-6.

PMID:
10408778
[PubMed - indexed for MEDLINE]
12.

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

Wedell A, Ritzén EM, Haglund-Stengler B, Luthman H.

Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):7232-6.

PMID:
1496017
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

Soardi FC, Barbaro M, Lau IF, Lemos-Marini SH, Baptista MT, Guerra-Junior G, Wedell A, Lajic S, de Mello MP.

J Clin Endocrinol Metab. 2008 Jun;93(6):2416-20. doi: 10.1210/jc.2007-2594. Epub 2008 Apr 1.

PMID:
18381579
[PubMed - indexed for MEDLINE]
14.

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier JP, Cartigny M, Morel Y.

J Clin Endocrinol Metab. 2008 May;93(5):1901-8. doi: 10.1210/jc.2007-2701. Epub 2008 Mar 4.

PMID:
18319307
[PubMed - indexed for MEDLINE]
15.

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2000 May;52(5):601-7.

PMID:
10792340
[PubMed - indexed for MEDLINE]
16.

Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).

Lajic S, Nikoshkov A, Holst M, Wedell A.

Biochem Biophys Res Commun. 1999 Apr 13;257(2):384-90.

PMID:
10198222
[PubMed - indexed for MEDLINE]
17.

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM.

J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. doi: 10.1210/jc.2007-2646. Epub 2008 Apr 29.

PMID:
18445671
[PubMed - indexed for MEDLINE]
18.

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG.

J Clin Endocrinol Metab. 2005 Jan;90(1):445-54. Epub 2004 Oct 13.

PMID:
15483094
[PubMed - indexed for MEDLINE]
19.

Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.

Rumsby G, Avey CJ, Conway GS, Honour JW.

Clin Endocrinol (Oxf). 1998 Jun;48(6):707-11.

PMID:
9713558
[PubMed - indexed for MEDLINE]
20.

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

Lajić S, Clauin S, Robins T, Vexiau P, Blanché H, Bellanne-Chantelot C, Wedell A.

J Clin Endocrinol Metab. 2002 Jun;87(6):2824-9.

PMID:
12050257
[PubMed - indexed for MEDLINE]

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