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Journal Abstract Search

347 related items for PubMed ID: 19129717

  • 21.
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  • 22. 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
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  • 23. 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
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  • 25. DAX-1 and SOX6 molecular interplay results in an antagonistic effect in pre-mRNA splicing.
    Ohe K, Tamai KT, Parvinen M, Sassone-Corsi P.
    Dev Dyn; 2009 Jun 21; 238(6):1595-604. PubMed ID: 19384854
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  • 26. 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 21; 84(2):504-11. PubMed ID: 10022408
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  • 29. NR0B1A: an alternatively spliced form of NR0B1.
    Ho J, Zhang YH, Huang BL, McCabe ER.
    Mol Genet Metab; 2004 Dec 21; 83(4):330-6. PubMed ID: 15589120
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  • 30. 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
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  • 31. Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation.
    Holzinger A, Riepe FG, Krone N, Grasser M, Münch HG, Schwarz HP.
    Klin Padiatr; 2008 Dec 15; 220(5):287-90. PubMed ID: 18716981
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  • 32. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    J Med Genet; 2009 Aug 15; 46(8):542-7. PubMed ID: 19001018
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  • 33.
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  • 34. Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
    Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, Pralong FP.
    J Clin Endocrinol Metab; 2002 Sep 15; 87(9):4094-100. PubMed ID: 12213854
    [Abstract] [Full Text] [Related]

  • 35. Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.
    Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB.
    J Clin Endocrinol Metab; 2001 Sep 15; 86(9):4068-71. PubMed ID: 11549627
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  • 36. 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
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  • 37. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Jul 15; 53(5):229-40. PubMed ID: 18204299
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  • 40. 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 15; 153(2):211-5. PubMed ID: 16061826
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