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Journal Abstract Search

154 related items for PubMed ID: 11113848

  • 1. Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
    Achermann JC, Silverman BL, Habiby RL, Jameson JL.
    J Pediatr; 2000 Dec; 137(6):878-81. PubMed ID: 11113848
    [Abstract] [Full Text] [Related]

  • 2. [Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].
    Okuhara K.
    Hokkaido Igaku Zasshi; 2004 Mar; 79(2):167-80. PubMed ID: 15101192
    [No Abstract] [Full Text] [Related]

  • 3. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.
    Guo W, Mason JS, Stone CG, Morgan SA, Madu SI, Baldini A, Lindsay EA, Biesecker LG, Copeland KC, Horlick MN.
    JAMA; 1995 Jul 26; 274(4):324-30. PubMed ID: 7609262
    [Abstract] [Full Text] [Related]

  • 4. Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
    Bassett JH, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV.
    Clin Endocrinol (Oxf); 1999 Jan 26; 50(1):69-75. PubMed ID: 10341858
    [Abstract] [Full Text] [Related]

  • 5. Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
    Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG.
    Hum Mutat; 2005 May 26; 25(5):502-3. PubMed ID: 15841486
    [Abstract] [Full Text] [Related]

  • 6. Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, Pagon RA, McCabe ER.
    J Clin Endocrinol Metab; 1996 Jul 26; 81(7):2481-6. PubMed ID: 8675564
    [Abstract] [Full Text] [Related]

  • 7. A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
    Calliari LE, Longui CA, Rocha MN, Faria CD, Kochi C, Melo MR, Melo MB, Monte O.
    Genet Mol Res; 2007 May 10; 6(2):277-83. PubMed ID: 17573657
    [Abstract] [Full Text] [Related]

  • 8. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
    Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL.
    J Clin Endocrinol Metab; 1999 Feb 10; 84(2):504-11. PubMed ID: 10022408
    [Abstract] [Full Text] [Related]

  • 9. Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.
    Abe S, Nakae J, Yasoshima K, Tajima T, Shinohara N, Murashita M, Satoh K, Koike A, Takahashi Y, Fujieda K.
    Am J Med Genet; 1999 May 21; 84(2):87-9. PubMed ID: 10323730
    [Abstract] [Full Text] [Related]

  • 10. A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.
    Ozer EA, Kaya A, Yildirimer M, Guler O, Can S, Aydinlioglu H.
    Eur J Pediatr; 2009 Mar 21; 168(3):367-9. PubMed ID: 18604556
    [Abstract] [Full Text] [Related]

  • 11. [From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene].
    Verrijn Stuart AA, de Vroede MA, Giltay JC.
    Ned Tijdschr Geneeskd; 2005 May 21; 149(21):1156-8. PubMed ID: 15940919
    [Abstract] [Full Text] [Related]

  • 12. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
    Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y.
    Clin Endocrinol (Oxf); 2010 Apr 21; 72(4):448-54. PubMed ID: 19508677
    [Abstract] [Full Text] [Related]

  • 13. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
    Phelan JK, McCabe ER.
    Hum Mutat; 2001 Dec 21; 18(6):472-87. PubMed ID: 11748841
    [Abstract] [Full Text] [Related]

  • 14. Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
    Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK.
    Hum Mutat; 2001 Dec 21; 18(6):547. PubMed ID: 11748852
    [Abstract] [Full Text] [Related]

  • 15. Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
    Laissue P, Copelli S, Bergada I, Bergada C, Barrio G, Karaboga S, Wurtz JM, Fellous M, Lalli E, Veitia RA.
    Clin Endocrinol (Oxf); 2006 Nov 21; 65(5):681-6. PubMed ID: 17054473
    [Abstract] [Full Text] [Related]

  • 16. Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Hamaguchi K, Arikawa M, Yasunaga S, Kakuma T, Fukagawa K, Yanase T, Nawata H, Sakata T.
    Am J Med Genet; 1998 Feb 26; 76(1):62-6. PubMed ID: 9508067
    [Abstract] [Full Text] [Related]

  • 17. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
    Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P.
    Eur J Endocrinol; 2006 May 26; 154(5):685-9. PubMed ID: 16645015
    [Abstract] [Full Text] [Related]

  • 18. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Qin G, Ji H, Li X, Ma X, Wang D.
    J Pediatr Endocrinol Metab; 2015 Jul 26; 28(7-8):809-14. PubMed ID: 25968435
    [Abstract] [Full Text] [Related]

  • 19. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene.
    Merke DP, Tajima T, Baron J, Cutler GB.
    N Engl J Med; 1999 Apr 22; 340(16):1248-52. PubMed ID: 10210708
    [No Abstract] [Full Text] [Related]

  • 20. Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.
    Kaiserman KB, Nakamoto JM, Geffner ME, McCabe ER.
    J Pediatr; 1998 Aug 22; 133(2):300-2. PubMed ID: 9709728
    [Abstract] [Full Text] [Related]

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