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Results: 1 to 20 of 110

1.

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, Murphy N, Migeon CJ, Miller WL.

J Clin Endocrinol Metab. 2009 Dec;94(12):4992-5000. doi: 10.1210/jc.2009-1460. Epub 2009 Oct 16.

PMID:
19837910
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL.

Am J Hum Genet. 2005 May;76(5):729-49. Epub 2005 Mar 25.

PMID:
15793702
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.

Miller WL, Huang N, Pandey AV, Flück CE, Agrawal V.

Ann N Y Acad Sci. 2005 Dec;1061:100-8. Review.

PMID:
16467261
[PubMed - indexed for MEDLINE]
4.

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.

Pandey AV, Flück CE, Huang N, Tajima T, Fujieda K, Miller WL.

Endocr Res. 2004 Nov;30(4):881-8.

PMID:
15666840
[PubMed - indexed for MEDLINE]
5.

Consequences of POR mutations and polymorphisms.

Miller WL, Agrawal V, Sandee D, Tee MK, Huang N, Choi JH, Morrissey K, Giacomini KM.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):174-9. doi: 10.1016/j.mce.2010.10.022. Epub 2010 Nov 9.

PMID:
21070833
[PubMed - indexed for MEDLINE]
6.

Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL.

J Clin Endocrinol Metab. 2008 Sep;93(9):3584-8. doi: 10.1210/jc.2008-0051. Epub 2008 Jun 17.

PMID:
18559916
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W.

J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7.

PMID:
22162478
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W.

J Clin Endocrinol Metab. 2011 Mar;96(3):E453-62. doi: 10.1210/jc.2010-1607. Epub 2010 Dec 29.

PMID:
21190981
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.

Miller WL.

Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. Review.

PMID:
23092891
[PubMed - indexed for MEDLINE]
10.

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A.

Am J Med Genet A. 2004 Aug 1;128A(4):333-9.

PMID:
15264278
[PubMed - indexed for MEDLINE]
11.

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

Scott RR, Gomes LG, Huang N, Van Vliet G, Miller WL.

J Clin Endocrinol Metab. 2007 Jun;92(6):2318-22. Epub 2007 Mar 27.

PMID:
17389698
[PubMed - indexed for MEDLINE]
12.

Clinical and biochemical consequences of p450 oxidoreductase deficiency.

Flück CE, Pandey AV.

Endocr Dev. 2011;20:63-79. doi: 10.1159/000321221. Epub 2010 Dec 16. Review.

PMID:
21164260
[PubMed - indexed for MEDLINE]
13.

P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.

Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL.

Endocr Dev. 2008;13:67-81. doi: 10.1159/000134826. Review.

PMID:
18493134
[PubMed - indexed for MEDLINE]
14.

[Antley-Bixler syndrome or POR deficiency?].

Tomková M, Marohnic CC, Baxová A, Martásek P.

Cas Lek Cesk. 2008;147(5):261-5. Review. Czech.

PMID:
18630181
[PubMed - indexed for MEDLINE]
15.

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Huang N, Agrawal V, Giacomini KM, Miller WL.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1733-8. doi: 10.1073/pnas.0711621105. Epub 2008 Jan 29.

PMID:
18230729
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genetic and clinical features of p450 oxidoreductase deficiency.

Scott RR, Miller WL.

Horm Res. 2008;69(5):266-75. doi: 10.1159/000114857. Epub 2008 Feb 6. Review.

PMID:
18259105
[PubMed - indexed for MEDLINE]
17.

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.

Flück CE, Nicolo C, Pandey AV.

Fundam Clin Pharmacol. 2007 Aug;21(4):399-410. Review.

PMID:
17635179
[PubMed - indexed for MEDLINE]
18.

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TA, Miller WL.

J Clin Endocrinol Metab. 2008 Jul;93(7):2913-6. doi: 10.1210/jc.2008-0304. Epub 2008 Apr 8.

PMID:
18397975
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.

Miller WL.

Trends Endocrinol Metab. 2004 Sep;15(7):311-5. Review.

PMID:
15350602
[PubMed - indexed for MEDLINE]
20.

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T.

J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. Epub 2004 Oct 13.

PMID:
15483095
[PubMed - indexed for MEDLINE]

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