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Journal Abstract Search

182 related items for PubMed ID: 18607630

  • 1. Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
    Yang F, Hanaki K, Kinoshita T, Kawashima Y, Nagaishi J, Kanzaki S.
    Eur J Pediatr; 2009 Mar; 168(3):329-31. PubMed ID: 18607630
    [Abstract] [Full Text] [Related]

  • 2. 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; 168(3):367-9. PubMed ID: 18604556
    [Abstract] [Full Text] [Related]

  • 3. Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.
    Lee YW, Won JC, Ki CS, Lee HY, Ahn HS, Lee YK, Kim YH, Kim CH.
    J Int Med Res; 2008 Mar; 36(2):357-61. PubMed ID: 18380948
    [Abstract] [Full Text] [Related]

  • 4. 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; 29(1):41-7. PubMed ID: 16553032
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
    Ahmad I, Paterson WF, Lin L, Adlard P, Duncan P, Tolmie J, Achermann JC, Donaldson MD.
    Horm Res; 2007 Dec 15; 68(1):32-7. PubMed ID: 17308433
    [Abstract] [Full Text] [Related]

  • 8. Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.
    Tsai WY, Tung YC.
    J Pediatr Endocrinol Metab; 2005 Oct 15; 18(10):991-7. PubMed ID: 16355812
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 65(5):681-6. PubMed ID: 17054473
    [Abstract] [Full Text] [Related]

  • 10. A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.
    Mericq V, Ciaccio M, Marino R, Lamoglia JJ, Viterbo G, Rivarola MA, Belgorosky A.
    J Pediatr Endocrinol Metab; 2007 Sep 15; 20(9):1039-43. PubMed ID: 18038713
    [Abstract] [Full Text] [Related]

  • 11. 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 Sep 15; 63(4):200-5. PubMed ID: 15860922
    [Abstract] [Full Text] [Related]

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

  • 13. 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 15; 81(10):3680-5. PubMed ID: 8855822
    [Abstract] [Full Text] [Related]

  • 14. 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 Oct 15; 51():241-59; discussion 259-60. PubMed ID: 8701082
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 81(2):530-5. PubMed ID: 8636263
    [Abstract] [Full Text] [Related]

  • 16. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
    Ito M, Yu R, Jameson JL.
    Mol Cell Biol; 1997 Mar 15; 17(3):1476-83. PubMed ID: 9032275
    [Abstract] [Full Text] [Related]

  • 17. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
    Lehmann SG, Lalli E, Sassone-Corsi P.
    Proc Natl Acad Sci U S A; 2002 Jun 11; 99(12):8225-30. PubMed ID: 12034880
    [Abstract] [Full Text] [Related]

  • 18. 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 11; 83(8):2666-74. PubMed ID: 9709929
    [Abstract] [Full Text] [Related]

  • 19. Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene.
    De Menis E, Roncaroli F, Calvari V, Chiarini V, Pauletto P, Camerino G, Cremonini N.
    Eur J Endocrinol; 2005 Aug 11; 153(2):211-5. PubMed ID: 16061826
    [Abstract] [Full Text] [Related]

  • 20. DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Kinoshita E, Yoshimoto M, Motomura K, Kawaguchi T, Mori R, Baba T, Nishijo K, Hasegawa T, Momoi T, Yorihuji T.
    Horm Res; 1997 Aug 11; 48(1):29-34. PubMed ID: 9195207
    [Abstract] [Full Text] [Related]

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