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571 related items for PubMed ID: 23044877

  • 1. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
    White PC, Bachega TA.
    Semin Reprod Med; 2012 Oct; 30(5):400-9. PubMed ID: 23044877
    [Abstract] [Full Text] [Related]

  • 2. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    White PC, Speiser PW.
    Endocr Rev; 2000 Jun; 21(3):245-91. PubMed ID: 10857554
    [Abstract] [Full Text] [Related]

  • 3. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 4. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Forest MG.
    Hum Reprod Update; 2004 Sep 10; 10(6):469-85. PubMed ID: 15514016
    [Abstract] [Full Text] [Related]

  • 5. [Congenital adrenal hyperplasia].
    Stanić M, Nesović M.
    Med Pregl; 1999 Sep 10; 52(11-12):447-54. PubMed ID: 10748766
    [Abstract] [Full Text] [Related]

  • 6. Diagnosis and management of classical congenital adrenal hyperplasia.
    Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ammini AC.
    Steroids; 2013 Aug 10; 78(8):741-6. PubMed ID: 23624029
    [Abstract] [Full Text] [Related]

  • 7. A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
    Concolino P, Minucci A, Mello E, Zuppi C, Capoluongo E.
    Clin Chem Lab Med; 2009 Aug 10; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

  • 8. Mutations in steroid 21-hydroxylase (CYP21).
    White PC, Tusie-Luna MT, New MI, Speiser PW.
    Hum Mutat; 1994 Aug 10; 3(4):373-8. PubMed ID: 8081391
    [Abstract] [Full Text] [Related]

  • 9. Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of life.
    Bonfig W, Schwarz HP.
    Horm Res Paediatr; 2011 Aug 10; 75(4):264-8. PubMed ID: 21196707
    [Abstract] [Full Text] [Related]

  • 10. [From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
    Claahsen-van der Grinten HL, Hoefsloot LH.
    Ned Tijdschr Geneeskd; 2007 May 26; 151(21):1174-7. PubMed ID: 17557757
    [Abstract] [Full Text] [Related]

  • 11.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Nimkarn S, Gangishetti PK, Yau M, New MI.
    ; 1993 May 26. PubMed ID: 20301350
    [Abstract] [Full Text] [Related]

  • 12. An update of congenital adrenal hyperplasia.
    New MI.
    Ann N Y Acad Sci; 2004 Dec 26; 1038():14-43. PubMed ID: 15838095
    [Abstract] [Full Text] [Related]

  • 13. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
    New MI.
    Am J Med; 1995 Jan 16; 98(1A):2S-8S. PubMed ID: 7825636
    [Abstract] [Full Text] [Related]

  • 14. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, Lin-Su K, New MI.
    Endocrinol Metab Clin North Am; 2009 Dec 16; 38(4):699-718. PubMed ID: 19944288
    [Abstract] [Full Text] [Related]

  • 15. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 16; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 16. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
    Speiser PW.
    Am J Pharmacogenomics; 2001 Jan 16; 1(2):101-10. PubMed ID: 12174671
    [Abstract] [Full Text] [Related]

  • 17. Non-classic congenital adrenal hyperplasia.
    Kelestimur F.
    Pediatr Endocrinol Rev; 2006 Aug 16; 3 Suppl 3():451-4. PubMed ID: 17551465
    [Abstract] [Full Text] [Related]

  • 18. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
    Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P.
    Iran Biomed J; 2008 Jan 16; 12(1):49-53. PubMed ID: 18392095
    [Abstract] [Full Text] [Related]

  • 19. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
    Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.
    Clin Endocrinol (Oxf); 2007 Sep 16; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 20. Congenital adrenal hyperplasia: phenotype and genotype.
    Hughes I.
    J Pediatr Endocrinol Metab; 2002 Dec 16; 15 Suppl 5():1329-40. PubMed ID: 12510987
    [Abstract] [Full Text] [Related]


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