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Items: 1 to 20 of 110

1.

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
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.

3.
4.

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Ko JM, Cheon CK, Kim GH, Yoo HW.

Eur J Pediatr. 2009 Jul;168(7):877-80. doi: 10.1007/s00431-008-0849-0. Epub 2008 Oct 14.

PMID:
18853185
5.

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
6.

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
7.

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW.

Am J Med Genet. 2002 Jun 15;110(2):95-102.

PMID:
12116245
8.

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR.

Am J Med Genet A. 2006 Sep 1;140A(17):1797-803.

PMID:
16906539
9.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T.

J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3.

PMID:
19258400
10.
11.

Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.

Fukami M, Ogata T.

Pediatr Int. 2014 Dec;56(6):805-808. doi: 10.1111/ped.12518. Review.

PMID:
25294558
12.

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
13.

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Cragun DL, Trumpy SK, Shackleton CH, Kelley RI, Leslie ND, Mulrooney NP, Hopkin RJ.

Am J Med Genet A. 2004 Aug 15;129A(1):1-7.

PMID:
15266606
14.

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ, Parween S, Udhane SS, Flück CE, Pandey AV.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):38-50. doi: 10.1016/j.jsbmb.2016.04.003. Epub 2016 Apr 8.

PMID:
27068427
15.

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.

16.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):578-85.

17.

Spectrum of Antley-Bixler syndrome.

McGlaughlin KL, Witherow H, Dunaway DJ, David DJ, Anderson PJ.

J Craniofac Surg. 2010 Sep;21(5):1560-4. doi: 10.1097/SCS.0b013e3181ec6afe.

PMID:
20818252
18.

P450 oxidoreductase deficiency and Antley-Bixler syndrome.

Arlt W.

Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. Review.

PMID:
17960482
19.

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
20.

Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.

Bai Y, Li J, Wang X.

J Ovarian Res. 2017 Mar 14;10(1):16. doi: 10.1186/s13048-017-0312-9. Review.

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