1 |
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
53
62
5
|
Lavery GG...Stewart PM
|
18628520 |
2008 |
2 |
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
53
62
5
|
Draper N...Stewart PM
|
12858176 |
2003 |
3 |
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
62
5
|
Biason-Lauber A...Zachmann M
|
11150889 |
2000 |
4 |
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1.
62
5
|
Jamieson A...Connell JM
|
10522997 |
1999 |
5 |
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
53
62
|
Alcina A...Matesanz F
|
19935835 |
2010 |
6 |
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism.
53
62
|
White PC...Lavery GG
|
17240046 |
2007 |
7 |
Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia.
53
62
|
Smit P...Lamberts SW
|
17062770 |
2007 |
8 |
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
53
62
|
Gambineri A...Walker BR
|
16551740 |
2006 |
9 |
Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.
53
62
|
White PC
|
16091483 |
2005 |
10 |
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
53
62
|
San Millan JL...Escobar-Morreale HF
|
15827106 |
2005 |
11 |
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1.
53
62
|
Bujalska IJ...Stewart PM
|
15956339 |
2005 |
12 |
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response.
53
62
|
Tomlinson JW...Stewart PM
|
15466942 |
2004 |
13 |
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase.
53
62
|
Tomlinson JW...Stewart PM
|
11469811 |
2001 |
14 |
Alterations of Cortisol Metabolism in Human Disorders.
62
|
White PC
|
29843121 |
2018 |
15 |
A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis.
62
|
Zajkowska A...Bossowski A
|
29073307 |
2017 |
16 |
Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis.
62
|
Dhayat NA...Fluck CE
|
26297192 |
2015 |
17 |
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
62
|
Malikova J...Fluck CE
|
25096886 |
2014 |
18 |
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.
62
|
Lavery GG...Stewart PM
|
23132696 |
2013 |
19 |
Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage.
62
|
Chua AK...Goodarzi MO
|
22238371 |
2012 |
20 |
Genetics of adrenocortical disease: an update.
62
|
Bar-Lev A...Annes JP
|
22476103 |
2012 |
21 |
Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.
62
|
Shackleton CH
|
21874273 |
2012 |
22 |
Premature adrenarche: novel lessons from early onset androgen excess.
62
|
Idkowiak J...Arlt W
|
21622478 |
2011 |
23 |
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
62
|
Lawson AJ...Ride JP
|
21325058 |
2011 |
24 |
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
62
|
Qin K...Rosenfield RL
|
21050867 |
2011 |
25 |
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).
62
|
Krone N...Shackleton CH
|
20417277 |
2010 |
26 |
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase.
62
|
White PC...McMillan DR
|
18622204 |
2008 |
27 |
[11beta-hydroxysteroide dehydrogenases. Recent advances].
62
|
Vantyghem MC...Wemeau JL
|
17368420 |
2007 |
28 |
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
62
|
Draper N...McCarthy MI
|
16817821 |
2006 |
29 |
11beta-hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action.
62
|
Draper N...Stewart PM
|
16079253 |
2005 |
30 |
11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy.
62
|
Malunowicz EM...Bossowski A
|
12649576 |
2003 |
31 |
Apparent cortisone reductase deficiency: a unique form of hypercortisolism.
62
|
Phillipov G...Shackleton CH
|
8923828 |
1996 |
32 |
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency.
62
|
Nikkila H...White PC
|
8370690 |
1993 |