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Volumn 154, Issue 5, 2006, Pages 685-689

DAX1 and X-linked adrenal hypoplasia congenita: Clinical and molecular analysis in five patients

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; CORTISONE ACETATE; DNA; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1; TESTOSTERONE; TESTOSTERONE ENANTATE; UROFOLLITROPIN;

EID: 33744523194     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.02132     Document Type: Article
Times cited : (43)

References (27)
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    • Guo W, Burris TP & McCabe ER. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/ gonadal axis. Biochemistry and Molecular Medicine 1995 56 8-13.
    • (1995) Biochemistry and Molecular Medicine , vol.56 , pp. 8-13
    • Guo, W.1    Burris, T.P.2    McCabe, E.R.3
  • 4
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    • Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
    • Swain A, Zanaria E, Hacker A, Lovell-Badge R & Camerino G. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nature Genetics 1996 12 404-409.
    • (1996) Nature Genetics , vol.12 , pp. 404-409
    • Swain, A.1    Zanaria, E.2    Hacker, A.3    Lovell-Badge, R.4    Camerino, G.5
  • 5
    • 0029809471 scopus 로고    scopus 로고
    • Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production
    • Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr & Jameson JL. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. Journal of Clinical Investigations 1996 98 1055-1062.
    • (1996) Journal of Clinical Investigations , vol.98 , pp. 1055-1062
    • Habiby, R.L.1    Boepple, P.2    Nachtigall, L.3    Sluss, P.M.4    Crowley Jr., W.F.5    Jameson, J.L.6
  • 7
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    • Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita
    • Phelan JK & McCabe ER. Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Human Mutation 2001 18 472-487.
    • (2001) Human Mutation , vol.18 , pp. 472-487
    • Phelan, J.K.1    McCabe, E.R.2
  • 13
    • 0033594383 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
    • Merke DP, Tajima T, Baron J & Cutler GB Jr. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. New England Journal of Medicine 1999 340 1248-1252.
    • (1999) New England Journal of Medicine , vol.340 , pp. 1248-1252
    • Merke, D.P.1    Tajima, T.2    Baron, J.3    Cutler Jr., G.B.4
  • 15
    • 0035020065 scopus 로고    scopus 로고
    • Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice
    • Jeffs B, Ito M, Yu RN, Martinson FA, Wang ZJ, Doglio LT & Jameson JL. Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice. Endocrinology 2001 142 2481-2488.
    • (2001) Endocrinology , vol.142 , pp. 2481-2488
    • Jeffs, B.1    Ito, M.2    Yu, R.N.3    Martinson, F.A.4    Wang, Z.J.5    Doglio, L.T.6    Jameson, J.L.7
  • 17
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    • Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice
    • Jeffs B, Meeks JJ, Ito M, Martinson FA, Matzuk M, Jameson JL & Russell LD. Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice. Endocrinology 2001 142 4486-4495.
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    • Peter, M.1    Viemann, M.2    Partsch, C.J.3    Sippell, W.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.