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225 related items for PubMed ID: 10931108

  • 1. X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients.
    Binder G, Wollmann H, Schwarze CP, Strom TM, Peter M, Ranke MB.
    Clin Endocrinol (Oxf); 2000 Aug; 53(2):249-55. PubMed ID: 10931108
    [Abstract] [Full Text] [Related]

  • 2. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
    Peter M, Viemann M, Partsch CJ, Sippell WG.
    J Clin Endocrinol Metab; 1998 Aug; 83(8):2666-74. PubMed ID: 9709929
    [Abstract] [Full Text] [Related]

  • 3. 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; 84(2):504-11. PubMed ID: 10022408
    [Abstract] [Full Text] [Related]

  • 4. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
    Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K.
    J Clin Endocrinol Metab; 1996 Oct; 81(10):3680-5. PubMed ID: 8855822
    [Abstract] [Full Text] [Related]

  • 5. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
    Wang J, Killinger DW, Hegele RA.
    J Investig Med; 1999 May; 47(5):232-5. PubMed ID: 10361383
    [Abstract] [Full Text] [Related]

  • 6. Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
    Nakae J, Abe S, Tajima T, Shinohara N, Murashita M, Igarashi Y, Kusuda S, Suzuki J, Fujieda K.
    J Clin Endocrinol Metab; 1997 Nov; 82(11):3835-41. PubMed ID: 9360549
    [Abstract] [Full Text] [Related]

  • 7. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
    Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H.
    J Clin Endocrinol Metab; 1996 Feb; 81(2):530-5. PubMed ID: 8636263
    [Abstract] [Full Text] [Related]

  • 8. 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; 50(1):69-75. PubMed ID: 10341858
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W.
    Nature; 1994 Dec 15; 372(6507):672-6. PubMed ID: 7990958
    [Abstract] [Full Text] [Related]

  • 10. The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.
    Burris TP, Guo W, McCabe ER.
    Recent Prog Horm Res; 1996 Dec 15; 51():241-59; discussion 259-60. PubMed ID: 8701082
    [Abstract] [Full Text] [Related]

  • 11. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
    Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL.
    J Clin Endocrinol Metab; 2001 Jul 15; 86(7):3171-5. PubMed ID: 11443184
    [Abstract] [Full Text] [Related]

  • 12. An atypical kindred with X-linked adrenal hypoplasia congenita, normal puberty, and normal Dax-1 promoter and coding sequence.
    Loke KY, Poh KS, Walker AP, Tan JA, Tay AH.
    J Pediatr Endocrinol Metab; 2000 Jan 15; 13(1):29-36. PubMed ID: 10689635
    [Abstract] [Full Text] [Related]

  • 13. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
    Goto M, Katsumata N.
    Horm Res; 2009 Jan 15; 71(2):120-4. PubMed ID: 19129717
    [Abstract] [Full Text] [Related]

  • 14. X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings.
    Calvari V, Alpigiani MG, Poggi E, Podesta B, Camerino G, Lorini R.
    J Endocrinol Invest; 2006 Jan 15; 29(1):41-7. PubMed ID: 16553032
    [Abstract] [Full Text] [Related]

  • 15. Congenital adrenal hypoplasia and DAX-1 gene mutations.
    Tabarin A.
    Ann Endocrinol (Paris); 2001 Apr 15; 62(2):202-6. PubMed ID: 11353895
    [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. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
    Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW.
    Horm Res; 2005 Feb 26; 63(4):200-5. PubMed ID: 15860922
    [Abstract] [Full Text] [Related]

  • 18. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
    Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A, Weiss J, Beck-Peccoz P, Jameson JL.
    J Clin Endocrinol Metab; 2003 Jan 26; 88(1):417-23. PubMed ID: 12519885
    [Abstract] [Full Text] [Related]

  • 19. Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.
    Wheeler B, George PM, Mackenzie K, Hunt P, Potter HC, Florkowski CM.
    Ann Clin Biochem; 2008 Nov 26; 45(Pt 6):606-9. PubMed ID: 18941128
    [Abstract] [Full Text] [Related]

  • 20. Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
    Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T.
    Endocr J; 2008 Mar 26; 55(1):97-103. PubMed ID: 18202527
    [Abstract] [Full Text] [Related]

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