These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

241 related items for PubMed ID: 22162478

  • 1. 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. PubMed ID: 22162478
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 21190981
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 29; 13(9):. PubMed ID: 32994263
    [Abstract] [Full Text] [Related]

  • 7. Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.
    Wang C, Tian Q.
    Front Endocrinol (Lausanne); 2023 Sep 29; 14():1226387. PubMed ID: 37635957
    [Abstract] [Full Text] [Related]

  • 8. 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 Sep 29; 13():1020880. PubMed ID: 36518257
    [Abstract] [Full Text] [Related]

  • 9.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Idkowiak J, Cragun D, Hopkin RJ, Arlt W.
    ; 1993 Sep 29. PubMed ID: 20301592
    [Abstract] [Full Text] [Related]

  • 10. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
    Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T.
    Pediatr Res; 2006 Feb 29; 59(2):276-80. PubMed ID: 16439592
    [Abstract] [Full Text] [Related]

  • 11. 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 30; 14(1):299. PubMed ID: 31888681
    [Abstract] [Full Text] [Related]

  • 12. Genetics of congenital adrenal hyperplasia.
    Krone N, Arlt W.
    Best Pract Res Clin Endocrinol Metab; 2009 Apr 30; 23(2):181-92. PubMed ID: 19500762
    [Abstract] [Full Text] [Related]

  • 13. 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 30; 94(12):4992-5000. PubMed ID: 19837910
    [Abstract] [Full Text] [Related]

  • 14. Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
    Tomalik-Scharte D, Maiter D, Kirchheiner J, Ivison HE, Fuhr U, Arlt W.
    Eur J Endocrinol; 2010 Dec 30; 163(6):919-24. PubMed ID: 20844025
    [Abstract] [Full Text] [Related]

  • 15. In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
    Nurhafizuddin M, Azizi A, Ming LC, Shafqat N.
    Molecules; 2022 Jul 21; 27(14):. PubMed ID: 35889519
    [Abstract] [Full Text] [Related]

  • 16. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.
    Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL.
    Endocr Dev; 2008 Jul 21; 13():67-81. PubMed ID: 18493134
    [Abstract] [Full Text] [Related]

  • 17. Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.
    Gusmano C, Cannarella R, Crafa A, Barbagallo F, La Vignera S, Condorelli RA, Calogero AE.
    J Endocrinol Invest; 2023 Jan 21; 46(1):1-14. PubMed ID: 35842891
    [Abstract] [Full Text] [Related]

  • 18. P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.
    Dean B, Chrisp GL, Quartararo M, Maguire AM, Hameed S, King BR, Munns CF, Torpy DJ, Falhammar H, Rushworth RL.
    J Clin Endocrinol Metab; 2020 Mar 01; 105(3):. PubMed ID: 31825489
    [Abstract] [Full Text] [Related]

  • 19. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
    Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.
    Sex Dev; 2015 Mar 01; 9(2):91-7. PubMed ID: 25765894
    [Abstract] [Full Text] [Related]

  • 20. A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
    Idkowiak J, Randell T, Dhir V, Patel P, Shackleton CH, Taylor NF, Krone N, Arlt W.
    J Clin Endocrinol Metab; 2012 Mar 01; 97(3):E465-75. PubMed ID: 22170710
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.