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Journal Abstract Search

347 related items for PubMed ID: 19129717

  • 1. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
    Goto M, Katsumata N.
    Horm Res; 2009; 71(2):120-4. PubMed ID: 19129717
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  • 3. 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; 65(5):681-6. PubMed ID: 17054473
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  • 4. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
    Loke KY, Poh LK, Lee WW, Lai PS.
    Horm Res; 2009 Nov; 71(5):298-304. PubMed ID: 19339795
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  • 6. 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
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  • 8. [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
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  • 9. 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
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  • 11. 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
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  • 12. 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 10; 55(1):97-103. PubMed ID: 18202527
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  • 14. [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 10; 79(2):167-80. PubMed ID: 15101192
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  • 16. Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia.
    Engiz O, Ozön A, Riepe F, Alikaşifoğlu A, Gönç N, Kandemir N.
    Turk J Pediatr; 2010 Mar 10; 52(3):312-6. PubMed ID: 20718192
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  • 17. 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 10; 25(5):502-3. PubMed ID: 15841486
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  • 18. Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia.
    Mantovani G, Mancini M, Gazzano G, Spada A, Colpi GM, Beck-Peccoz P, Persani L.
    Fertil Steril; 2005 Nov 10; 84(5):1542-4. PubMed ID: 16275267
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  • 19. 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 10; 81(10):3680-5. PubMed ID: 8855822
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  • 20. 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 10; 168(3):329-31. PubMed ID: 18607630
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