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Volumn 81, Issue 2, 1996, Pages 530-535

New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; DNA; FOLLITROPIN; HYDROCORTISONE; LUTEINIZING HORMONE; PRASTERONE; PRASTERONE SULFATE; RENIN; TESTOSTERONE;

EID: 0030063778     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.2.530     Document Type: Article
Times cited : (49)

References (31)
  • 1
    • 0025895516 scopus 로고
    • Congenital adrenal hypoplasia, and isolated gonadotropin deficiency
    • Kletter GB, Gorski JL, Kelch RP. Congenital adrenal hypoplasia, and isolated gonadotropin deficiency. Trend Endocrinol Metab. 1991; 2:123-128.
    • (1991) Trend Endocrinol Metab. , vol.2 , pp. 123-128
    • Kletter, G.B.1    Gorski, J.L.2    Kelch, R.P.3
  • 3
    • 0016639702 scopus 로고
    • Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia
    • Prader A, Zachman M, Illig R. 1975 Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J Pediatr 86:421-422.
    • (1975) J Pediatr , vol.86 , pp. 421-422
    • Prader, A.1    Zachman, M.2    Illig, R.3
  • 6
  • 7
    • 0017646937 scopus 로고
    • Gonadotropin deficiency, and adrenocortical insufficiency in children: A new syndrome
    • Kelly WF, Joplin GF, Pearson GW. Gonadotropin deficiency, and adrenocortical insufficiency in children: a new syndrome. Brt Med J. 1977; 9: 98.
    • (1977) Brt Med J. , vol.9 , pp. 98
    • Kelly, W.F.1    Joplin, G.F.2    Pearson, G.W.3
  • 8
    • 0018873091 scopus 로고
    • Gonadotropin deficiency, and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia
    • Zachman M, Illig R, Prader A. Gonadotropin deficiency, and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J Pediatr. 1980; 97:255-257.
    • (1980) J Pediatr. , vol.97 , pp. 255-257
    • Zachman, M.1    Illig, R.2    Prader, A.3
  • 9
    • 0019982706 scopus 로고
    • X-linked congenital adrenal hypoplasia: A study of five generations of a Greenlandic family
    • Peterson KE, Bille T, Jacobson BB, Iversen T. X-linked congenital adrenal hypoplasia: a study of five generations of a Greenlandic family. Acta Paediatr Scand. 1982; 7:947-951.
    • (1982) Acta Paediatr Scand. , vol.7 , pp. 947-951
    • Peterson, K.E.1    Bille, T.2    Jacobson, B.B.3    Iversen, T.4
  • 13
    • 0022622372 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency associated with Xp. 1986 21 interstitial deletion
    • Bartley JA, Patil S, Davenport S, Goldstein D, Pickens J. Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency associated with Xp. 1986 21 interstitial deletion. J Pediatr 108:189-192.
    • J Pediatr , vol.108 , pp. 189-192
    • Bartley, J.A.1    Patil, S.2    Davenport, S.3    Goldstein, D.4    Pickens, J.5
  • 19
    • 0017148259 scopus 로고
    • Isolation of high molecular weight DNA
    • Blin N, Stafford DW. Isolation of high molecular weight DNA. Nucleic Acids Res. 1976; 3:2303-2308.
    • (1976) Nucleic Acids Res. , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.W.2
  • 21
    • 0011784689 scopus 로고
    • DNA sequencing with chain- Terminating inhibitors
    • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain- terminating inhibitors. Proc Natl Acad Sci USA. 1990 1988; 85:7652-7656.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7652-7656
    • Sanger, F.1    Nicklen, S.2    Coulson, A.R.3
  • 22
    • 0025372718 scopus 로고    scopus 로고
    • Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction
    • Kusukawa N, Uemori T, Asada K, Kato I. Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction. Bio Techniques 9:66-71.
    • Bio Techniques , vol.9 , pp. 66-71
    • Kusukawa, N.1    Uemori, T.2    Asada, K.3    Kato, I.4
  • 23
    • 0027260344 scopus 로고
    • De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA- Identical affected and unaffected siblings
    • Tajima T, Fujieda K, Fujii-Kuriyama Y. De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA- identical affected and unaffected siblings. J Clin Endocrinol Metab 1993; 77:86-89.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 86-89
    • Tajima, T.1    Fujieda, K.2    Fujii-Kuriyama, Y.3
  • 24
    • 0026649281 scopus 로고
    • Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis
    • Hawkins JR, Taylor A, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet. 1992; 51:979-984.
    • (1992) Am J Hum Genet. , vol.51 , pp. 979-984
    • Hawkins, J.R.1    Taylor, A.2    Goodfellow, P.N.3    Migeon, C.J.4    Smith, K.D.5    Berkovitz, G.D.6
  • 25
    • 0019517931 scopus 로고
    • Familial cytomegalic adrenocortical hypoplasia: An X-linked syndrome of pubertal failure
    • Hay ID, Smail PJ, Forsyth CC. Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch Dis Child. 1981; 56:715-721.
    • (1981) Arch Dis Child. , vol.56 , pp. 715-721
    • Hay, I.D.1    Smail, P.J.2    Forsyth, C.C.3
  • 27
    • 9044239071 scopus 로고
    • Male sibling cases of familial congenital adrenal hypoplasia
    • Tanae A, Morikawa Y, Shimizu K. Male sibling cases of familial congenital adrenal hypoplasia. Syonika Sinryo. 1980; 43:222-227.
    • (1980) Syonika Sinryo , vol.43 , pp. 222-227
    • Tanae, A.1    Morikawa, Y.2    Shimizu, K.3
  • 30
    • 0028303959 scopus 로고
    • A cell-specific nuclear receptor is essential for adrenal, and gonadal development and sexual differentiation
    • Luo X, Ikeda Y, Parker KL. A cell-specific nuclear receptor is essential for adrenal, and gonadal development and sexual differentiation. Cell. 1994; 77: 481-490.
    • (1994) Cell , vol.77 , pp. 481-490
    • Luo, X.1    Ikeda, Y.2    Parker, K.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.