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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 20410220)

  • 1. Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
    Idkowiak J; Malunowicz EM; Dhir V; Reisch N; Szarras-Czapnik M; Holmes DM; Shackleton CH; Davies JD; Hughes IA; Krone N; Arlt W
    J Clin Endocrinol Metab; 2010 Jul; 95(7):3418-27. PubMed ID: 20410220
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
    Phelan N; Williams EL; Cardamone S; Lee M; Creighton SM; Rumsby G; Conway GS
    Eur J Endocrinol; 2015 Jun; 172(6):745-51. PubMed ID: 25740850
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Steroidogenesis of the testis -- new genes and pathways.
    Flück CE; Pandey AV
    Ann Endocrinol (Paris); 2014 May; 75(2):40-7. PubMed ID: 24793988
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 97(3):E465-75. PubMed ID: 22170710
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
    Dhir V; Ivison HE; Krone N; Shackleton CH; Doherty AJ; Stewart PM; Arlt W
    Mol Endocrinol; 2007 Aug; 21(8):1958-68. PubMed ID: 17505056
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
    Audi L; Fernández-Cancio M; Carrascosa A; Andaluz P; Torán N; Piró C; Vilaró E; Vicens-Calvet E; Gussinyé M; Albisu MA; Yeste D; Clemente M; Hernández de la Calle I; Del Campo M; Vendrell T; Blanco A; Martínez-Mora J; Granada ML; Salinas I; Forn J; Calaf J; Angerri O; Martínez-Sopena MJ; Del Valle J; García E; Gracia-Bouthelier R; Lapunzina P; Mayayo E; Labarta JI; Lledó G; Sánchez Del Pozo J; Arroyo J; Pérez-Aytes A; Beneyto M; Segura A; Borrás V; Gabau E; Caimarí M; Rodríguez A; Martínez-Aedo MJ; Carrera M; Castaño L; Andrade M; Bermúdez de la Vega JA;
    J Clin Endocrinol Metab; 2010 Apr; 95(4):1876-88. PubMed ID: 20150575
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
    Coutant R; Mallet D; Lahlou N; Bouhours-Nouet N; Guichet A; Coupris L; Croué A; Morel Y
    J Clin Endocrinol Metab; 2007 Aug; 92(8):2868-73. PubMed ID: 17488792
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
    Tantawy S; Lin L; Akkurt I; Borck G; Klingmüller D; Hauffa BP; Krude H; Biebermann H; Achermann JC; Köhler B
    Eur J Endocrinol; 2012 Jul; 167(1):125-30. PubMed ID: 22474171
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Update--steroidogenic factor 1 (SF-1, NR5A1).
    Köhler B; Achermann JC
    Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.
    Sıklar Z; Berberoğlu M; Ceylaner S; Çamtosun E; Kocaay P; Göllü G; Sertçelik A; Öcal G
    J Pediatr Adolesc Gynecol; 2014 Apr; 27(2):98-101. PubMed ID: 24231572
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
    Holterhus PM; Werner R; Struve D; Hauffa BP; Schroeder C; Hiort O
    Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.
    Bouchoucha N; Samara-Boustani D; Pandey AV; Bony-Trifunovic H; Hofer G; Aigrain Y; Polak M; Flück CE
    Mol Cell Endocrinol; 2014 Jun; 390(1-2):8-17. PubMed ID: 24705274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
    Helszer Z; Dmochowska A; Borkowska E; Moczulska H; Słowikowska-Hilczer J; Pietrusiński M; Jędrzejczyk S; Kałużewski B
    Endokrynol Pol; 2013; 64(5):398-402. PubMed ID: 24186597
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
    Lin L; Philibert P; Ferraz-de-Souza B; Kelberman D; Homfray T; Albanese A; Molini V; Sebire NJ; Einaudi S; Conway GS; Hughes IA; Jameson JL; Sultan C; Dattani MT; Achermann JC
    J Clin Endocrinol Metab; 2007 Mar; 92(3):991-9. PubMed ID: 17200175
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure.
    Tajima T; Fujiwara F; Fujieda K
    Endocr J; 2009; 56(4):619-24. PubMed ID: 19318730
    [TBL] [Abstract][Full Text] [Related]  

  • 19. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
    Akcay T; Fernandez-Cancio M; Turan S; Güran T; Audi L; Bereket A
    Andrology; 2014 Jul; 2(4):572-8. PubMed ID: 24737579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.