| 1 |
34743977 | 17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses | 2022 Mar 3 |
2 |
| 2 |
32838438 | Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 - A Study of 365 Children and Adolescents. | 2021 Jul |
2 |
| 3 |
34829455 | Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development. | 2021 Nov 14 |
1 |
| 4 |
31256164 | HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. | 2019 |
1 |
| 5 |
28539365 | Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia. | 2017 Jun 30 |
2 |
| 6 |
28893623 | CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. | 2017 Nov |
1 |
| 7 |
25353971 | Secondary amenorrhoea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease. | 2015 Apr |
1 |
| 8 |
24667412 | Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. | 2014 |
1 |
| 9 |
24711560 | 17-Hydroxyprogesterone in children, adolescents and adults. | 2014 Jul |
2 |
| 10 |
25058354 | Autocrine positive regulatory feedback of glucocorticoid secretion: glucocorticoid receptor directly impacts H295R human adrenocortical cell function. | 2014 Sep |
1 |
| 11 |
25210767 | Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels. | 2014 |
1 |
| 12 |
23386413 | CYP21A2 mutations in women with polycystic ovary syndrome (PCOS). | 2013 May |
1 |
| 13 |
24081139 | Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis? | 2013 Dec |
1 |
| 14 |
22313422 | Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone. | 2012 Aug |
1 |
| 15 |
22985688 | Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone. | 2012 Dec 24 |
1 |
| 16 |
23045419 | Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia. | 2012 Sep |
1 |
| 17 |
21134444 | Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia. | 2011 Feb |
1 |
| 18 |
21646284 | Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche. | 2011 Aug |
3 |
| 19 |
20132843 | Challenges of steroid biotransformation with human cytochrome P450 monooxygenase CYP21 using resting cells of recombinant Schizosaccharomyces pombe. | 2010 Apr 15 |
1 |
| 20 |
19085698 | The frequency of CYP 21 gene mutations in Turkish women with hyperandrogenism. | 2009 May |
2 |
| 21 |
19690561 | Neonatal screening for congenital adrenal hyperplasia. | 2009 Sep |
1 |
| 22 |
18308097 | Adrenocortical hormone abnormalities in men with chronic prostatitis/chronic pelvic pain syndrome. | 2008 Feb |
1 |
| 23 |
18445671 | 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. | 2008 Jul |
1 |
| 24 |
17119906 | Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. | 2007 Mar |
1 |
| 25 |
16984992 | Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. | 2006 Dec |
1 |
| 26 |
15256784 | Adrenocorticotropic hormone and 17-hydroxyprogesterone levels during high-dose glucocorticoid supplement for the management of clitoroplasty of CYP21A2 deficiency. | 2004 Jun |
2 |
| 27 |
12605347 | Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency. | 2003 Feb |
1 |
| 28 |
11836321 | Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. | 2002 Feb |
1 |
| 29 |
12213672 | Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas. | 2002 Sep |
1 |
| 30 |
11359457 | CYP21 mutations and congenital adrenal hyperplasia. | 2001 May |
1 |
| 31 |
11022183 | Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency. | 2000 Sep |
4 |
| 32 |
10427156 | Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status. | 1999 Aug |
1 |
| 33 |
10521100 | The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations. | 1999 Oct |
1 |
| 34 |
9497336 | Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability. | 1998 Mar 13 |
1 |
| 35 |
9579234 | Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne. | 1998 Feb |
1 |
| 36 |
9666866 | Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty. | 1998 May |
2 |
| 37 |
9024240 | Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. | 1997 Feb |
3 |
| 38 |
7892885 | Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation. | 1995 Mar |
2 |
| 39 |
8081391 | Mutations in steroid 21-hydroxylase (CYP21). | 1994 |
1 |