1 |
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
62
24
5
|
Hershkovitz E...Miller WL
|
18559916 |
2008 |
2 |
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
62
24
5
|
Huang N...Miller WL
|
15793702 |
2005 |
3 |
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
62
24
5
|
Fukami M...Ogata T
|
15483095 |
2005 |
4 |
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
62
24
5
|
Fluck CE...Miller WL
|
14758361 |
2004 |
5 |
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
62
24
5
|
Kelley RI...Jabs EW
|
12116245 |
2002 |
6 |
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
24
5
|
Arlt W...Shackleton CH
|
15220035 |
2004 |
7 |
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.
62
5
|
Adachi M...Arlt W
|
16470797 |
2006 |
8 |
Antley-Bixler syndrome with radioulnar synostosis.
62
5
|
Hurley ME...Kelleher J
|
14513299 |
2004 |
9 |
NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
5
|
Topa A...Kolby L
|
31837199 |
2020 |
10 |
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.
62
24
|
Burkhard FZ...Pandey AV
|
27068427 |
2017 |
11 |
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.
62
24
|
Bonamichi BD...Gomes LG
|
27737328 |
2016 |
12 |
Pharmacogenomics of human P450 oxidoreductase.
62
24
|
Pandey AV...Sproll P
|
24847272 |
2014 |
13 |
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
62
24
|
Reisch N...Arlt W
|
23365120 |
2013 |
14 |
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
62
24
|
Krone N...Arlt W
|
22162478 |
2012 |
15 |
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites.
62
24
|
Soneda S...Ogata T
|
21900384 |
2011 |
16 |
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
62
24
|
Tomalik-Scharte D...Arlt W
|
20844025 |
2010 |
17 |
Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism.
62
24
|
Fluck CE...Pandey AV
|
20849814 |
2010 |
18 |
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
62
24
|
Sahakitrungruang T...Miller WL
|
19837910 |
2009 |
19 |
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
62
24
|
Fukami M...Ogata T
|
19258400 |
2009 |
20 |
Genetic variation in human P450 oxidoreductase.
62
24
|
Miller WL...Giacomini KM
|
18930113 |
2009 |
21 |
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.
62
24
|
Kranendonk M...Rueff J
|
18455494 |
2008 |
22 |
Genetic and clinical features of p450 oxidoreductase deficiency.
62
24
|
Scott RR...Miller WL
|
18259105 |
2008 |
23 |
Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase.
62
24
|
Pandey AV...Fluck CE
|
17595315 |
2007 |
24 |
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
62
24
|
Dhir V...Arlt W
|
17505056 |
2007 |
25 |
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
62
24
|
Scott RR...Miller WL
|
17389698 |
2007 |
26 |
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
62
24
|
Williamson L...Braddock SR
|
16906539 |
2006 |
27 |
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit.
62
24
|
Chevy F...Wolf C
|
16231320 |
2005 |
28 |
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
62
24
|
Cragun DL...Hopkin RJ
|
15266606 |
2004 |
29 |
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.
62
24
|
Shackleton C...Hauffa BP
|
15316970 |
2004 |
30 |
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.
62
24
|
Adachi M...Oka A
|
15264278 |
2004 |
31 |
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.
62
24
|
Shackleton C...Malunowicz E
|
14625002 |
2003 |
32 |
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
5
|
Biason-Lauber A...Zachmann M
|
9360545 |
1997 |
33 |
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.
24
|
Weaver KN...Hopkin RJ
|
25102973 |
2014 |
34 |
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia.
24
|
Wang DC...Glanc P
|
24585534 |
2014 |
35 |
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
24
|
Laue K...Robertson SP
|
22019272 |
2011 |
36 |
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
24
|
Idkowiak J...Arlt W
|
21190981 |
2011 |
37 |
Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase.
24
|
Agrawal V...Miller WL
|
20697309 |
2010 |
38 |
Restoration of mutant cytochrome P450 reductase activity by external flavin.
24
|
Nicolo C...Pandey AV
|
20188793 |
2010 |
39 |
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test.
24
|
Oneda B...Eap CB
|
19801957 |
2009 |
40 |
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
24
|
Dhir V...Krone N
|
19454579 |
2009 |
41 |
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.
24
|
Gomes LG...Miller WL
|
18957504 |
2009 |
42 |
Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.
24
|
Agrawal V...Miller WL
|
18551037 |
2008 |
43 |
P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity.
24
|
Hart SN...Zhong XB
|
18433346 |
2008 |
44 |
Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.
24
|
Huang N...Miller WL
|
18230729 |
2008 |
45 |
Benchmarking sets for molecular docking.
24
|
Huang N...Irwin JJ
|
17154509 |
2006 |
46 |
Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.
24
|
Lopez-Rangel E...Van Allen MI
|
16265639 |
2005 |
47 |
Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.
24
|
Otto DM...Wolf CR
|
12917333 |
2003 |
48 |
Liver-specific deletion of the NADPH-cytochrome P450 reductase gene: impact on plasma cholesterol homeostasis and the function and regulation of microsomal cytochrome P450 and heme oxygenase.
24
|
Gu J...Ding X
|
12697746 |
2003 |
49 |
Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.
24
|
Shen AL...Kasper CB
|
11742006 |
2002 |
50 |
Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient.
24
|
Aleck KA...Bartley DL
|
9332650 |
1997 |