188 related articles for article (PubMed ID: 20124576)
1. Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
But WM; Lo IF; Shek CC; Tse WY; Lam ST
Hong Kong Med J; 2010 Feb; 16(1):59-62. PubMed ID: 20124576
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18853185
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15483095
[TBL] [Abstract][Full Text] [Related]
4. Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L; Ren X; Song Y; Su C; Fu J; Gong C
Orphanet J Rare Dis; 2019 Dec; 14(1):299. PubMed ID: 31888681
[TBL] [Abstract][Full Text] [Related]
5. P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.
Flück CE; Miller WL
Curr Opin Pediatr; 2006 Aug; 18(4):435-41. PubMed ID: 16915000
[TBL] [Abstract][Full Text] [Related]
6. 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; 10(1):16. PubMed ID: 28288674
[TBL] [Abstract][Full Text] [Related]
7. Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency.
Koika V; Armeni AK; Georgopoulos NA
Hormones (Athens); 2016 Apr; 15(2):277-282. PubMed ID: 27376429
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15793702
[TBL] [Abstract][Full Text] [Related]
9. Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Unal E; Demiral M; Yıldırım R; Taş FF; Ceylaner S; Özbek MN
Hormones (Athens); 2021 Jun; 20(2):293-298. PubMed ID: 33123976
[TBL] [Abstract][Full Text] [Related]
10. Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Zhang J; Woo KL; Hai Y; Wang S; Lin Y; Huang Y; Peng X; Wu H; Zhang S; Yan L; Li Y
Front Endocrinol (Lausanne); 2022; 13():1020880. PubMed ID: 36518257
[TBL] [Abstract][Full Text] [Related]
11. P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL
Sci Signal; 2012 Oct; 5(247):pt11. PubMed ID: 23092891
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23295302
[TBL] [Abstract][Full Text] [Related]
13. [A case of Antley-Bixler syndrome caused by novel POR mutations].
Peng C; Huang C; Tan H; Wu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct; 36(10):1025-1027. PubMed ID: 31598952
[TBL] [Abstract][Full Text] [Related]
14. 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; 140A(17):1797-803. PubMed ID: 16906539
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 25294558
[TBL] [Abstract][Full Text] [Related]
16. A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.
Herkert JC; Blaauwwiekel EE; Hoek A; Veenstra-Knol HE; Kema IP; Arlt W; Kerstens MN
Neth J Med; 2011 Jun; 69(6):281-3. PubMed ID: 21868813
[TBL] [Abstract][Full Text] [Related]
17. P450 oxidoreductase deficiency with maternal virilization during pregnancy.
Nakanishi K; Yamashita A; Miyamoto T; Takeguchi R; Furuya A; Matsuo K; Tanahashi Y; Kawamura M; Sengoku K
Clin Exp Obstet Gynecol; 2016; 43(6):902-904. PubMed ID: 29944250
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 16467261
[TBL] [Abstract][Full Text] [Related]
19. Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Adachi M; Asakura Y; Tachibana K; Shackleton C
Pediatr Int; 2004 Oct; 46(5):583-9. PubMed ID: 15491389
[TBL] [Abstract][Full Text] [Related]
20. Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.
Li H; Zhao A; Xie M; Chen L; Wu H; Shen Y; Wang H
Transl Pediatr; 2021 Dec; 10(12):3309-3318. PubMed ID: 35070845
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
