PubMed (OMIM) for id: 348008

Year	Number of Results
1985	1
1986	1
1989	1
2000	1
2001	1
2002	2
2003	1
2004	3
2005	2
2024	0

1

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. Huang N, et al. Am J Hum Genet. 2005 May;76(5):729-49. doi: 10.1086/429417. Epub 2005 Mar 25. Am J Hum Genet. 2005. PMID: 15793702 Free PMC article.

2

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. Fukami M, et al. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

3

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.

Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CH. Arlt W, et al. Lancet. 2004 Jun 26;363(9427):2128-35. doi: 10.1016/S0140-6736(04)16503-3. Lancet. 2004. PMID: 15220035

4

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Flück CE, et al. Nat Genet. 2004 Mar;36(3):228-30. doi: 10.1038/ng1300. Epub 2004 Feb 1. Nat Genet. 2004. PMID: 14758361

5

Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.

Otto DM, Henderson CJ, Carrie D, Davey M, Gundersen TE, Blomhoff R, Adams RH, Tickle C, Wolf CR. Otto DM, et al. Mol Cell Biol. 2003 Sep;23(17):6103-16. doi: 10.1128/MCB.23.17.6103-6116.2003. Mol Cell Biol. 2003. PMID: 12917333 Free PMC article.

6

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. Kelley RI, et al. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510. Am J Med Genet. 2002. PMID: 12116245

7

Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.

Shen AL, O'Leary KA, Kasper CB. Shen AL, et al. J Biol Chem. 2002 Feb 22;277(8):6536-41. doi: 10.1074/jbc.M111408200. Epub 2001 Dec 12. J Biol Chem. 2002. PMID: 11742006 Free article.

8

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM. Reardon W, et al. J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26. J Med Genet. 2000. PMID: 10633130 Free PMC article.

9

Congenital adrenal hyperplasia.

Miller WL. Miller WL. N Engl J Med. 1986 May 15;314(20):1321-2. N Engl J Med. 1986. PMID: 3702935 No abstract available.

10

Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.

Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C. Peterson RE, et al. N Engl J Med. 1985 Nov 7;313(19):1182-91. doi: 10.1056/NEJM198511073131903. N Engl J Med. 1985. PMID: 2932643

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