180 related articles for article (PubMed ID: 31888681)
21. Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
Yatsuga S; Amano N; Nakamura-Utsunomiya A; Kobayashi H; Takasawa K; Nagasaki K; Nakamura A; Nishigaki S; Numakura C; Fujiwara I; Minamitani K; Hasegawa T; Tajima T
Endocr J; 2020 Aug; 67(8):853-857. PubMed ID: 32321882
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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. PubMed ID: 27068427
[TBL] [Abstract][Full Text] [Related]
24. Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism.
Flück CE; Mullis PE; Pandey AV
Biochem Biophys Res Commun; 2010 Oct; 401(1):149-53. PubMed ID: 20849814
[TBL] [Abstract][Full Text] [Related]
25. Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.
McCammon KM; Panda SP; Xia C; Kim JJ; Moutinho D; Kranendonk M; Auchus RJ; Lafer EM; Ghosh D; Martasek P; Kar R; Masters BS; Roman LJ
J Biol Chem; 2016 Sep; 291(39):20487-502. PubMed ID: 27496950
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.
Parween S; Roucher-Boulez F; Flück CE; Lienhardt-Roussie A; Mallet D; Morel Y; Pandey AV
J Clin Endocrinol Metab; 2016 Dec; 101(12):4789-4798. PubMed ID: 27603900
[TBL] [Abstract][Full Text] [Related]
28. Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.
Bonamichi BD; Santiago SL; Bertola DR; Kim CA; Alonso N; Mendonca BB; Bachega TA; Gomes LG
Arch Endocrinol Metab; 2016 Oct; 60(5):500-504. PubMed ID: 27737328
[TBL] [Abstract][Full Text] [Related]
29. Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency.
Sánchez-Garvín D; Albaladejo S; Ezquieta B; Corripio R
BMJ Case Rep; 2013 Jul; 2013():. PubMed ID: 23878291
[TBL] [Abstract][Full Text] [Related]
30. Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Reisch N; Idkowiak J; Hughes BA; Ivison HE; Abdul-Rahman OA; Hendon LG; Olney AH; Nielsen S; Harrison R; Blair EM; Dhir V; Krone N; Shackleton CH; Arlt W
J Clin Endocrinol Metab; 2013 Mar; 98(3):E528-36. PubMed ID: 23365120
[TBL] [Abstract][Full Text] [Related]
31. Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing : Overall analysis of a female with POR deficiency.
Zhang T; Li Z; Ren X; Huang B; Zhu G; Yang W; Jin L
J Assist Reprod Genet; 2020 Oct; 37(10):2503-2511. PubMed ID: 32725309
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. P450 oxidoreductase deficiency and Antley-Bixler syndrome.
Arlt W
Rev Endocr Metab Disord; 2007 Dec; 8(4):301-7. PubMed ID: 17960482
[TBL] [Abstract][Full Text] [Related]
35. Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Aljabri A; Alnaim F; Alsaleh Y
BMJ Case Rep; 2020 Sep; 13(9):. PubMed ID: 32994263
[TBL] [Abstract][Full Text] [Related]
36. Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.
Moutinho D; Marohnic CC; Panda SP; Rueff J; Masters BS; Kranendonk M
Drug Metab Dispos; 2012 Apr; 40(4):754-60. PubMed ID: 22252407
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.
Guo X; Wang D; Shan X; Yang L; Ding Y; Chen H; Rong X; Chu M; Lin J; Chen C
Stem Cell Res; 2021 Apr; 52():102261. PubMed ID: 33631521
[TBL] [Abstract][Full Text] [Related]
39. 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. PubMed ID: 18493134
[TBL] [Abstract][Full Text] [Related]
40. Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.
Tzetis M; Konstantinidou A; Sofocleous C; Kosma K; Mitrakos A; Tzannatos C; Kitsiou-Tzeli S
Birth Defects Res A Clin Mol Teratol; 2016 Jul; 106(7):536-41. PubMed ID: 26969897
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]