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Volumn 45, Issue 4, 2000, Pages 237-240

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome

Author keywords

Anosmia; Hypogonadism; KAL1; Kallmann syndrome; Mutation

Indexed keywords

DNA;

EID: 18744434516     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070033     Document Type: Article
Times cited : (14)

References (20)
  • 3
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    • Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
    • Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF, Vallejo M (1997) Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 82:213-217
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 213-217
    • Georgopoulos, N.A.1    Pralong, F.P.2    Seidman, C.E.3    Seidman, J.G.4    Crowley, W.F.5    Vallejo, M.6
  • 4
    • 0031737816 scopus 로고    scopus 로고
    • A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome
    • Gu W-X, Colquhoun-Kerr JS, Kopp P, Bode HH, Jameson JL (1998) A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. Mol Genet Metab 65:59-61
    • (1998) Mol Genet Metab , vol.65 , pp. 59-61
    • Gu, W.-X.1    Colquhoun-Kerr, J.S.2    Kopp, P.3    Bode, H.H.4    Jameson, J.L.5
  • 10
    • 0028223869 scopus 로고
    • A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval
    • Klink A, Meindl A, Hellebrand H, Rappold GA (1994) A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. Hum Genet 93:463-466
    • (1994) Hum Genet , vol.93 , pp. 463-466
    • Klink, A.1    Meindl, A.2    Hellebrand, H.3    Rappold, G.A.4
  • 12
    • 0031839020 scopus 로고    scopus 로고
    • Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene
    • Maya-Núñez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP (1998a) Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. Clin Endocrinol 48:713-718
    • (1998) Clin Endocrinol , vol.48 , pp. 713-718
    • Maya-Núñez, G.1    Cuevas-Covarrubias, S.2    Zenteno, J.C.3    Ulloa-Aguirre, A.4    Kofman-Alfaro, S.5    Mendez, J.P.6
  • 18
    • 0027583787 scopus 로고
    • X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level
    • Prager D, Braunstein GD (1993) X-chromosome-linked Kallmann's syndrome: pathology at the molecular level. J Clin Endocrinol Metab 76; 824-826
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 824-826
    • Prager, D.1    Braunstein, G.D.2
  • 20
    • 0031902705 scopus 로고    scopus 로고
    • Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation
    • Weissörtel R, Strom TM, Dorr HG, Rauch A, Meitinger T (1998) Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet 54:45-51
    • (1998) Clin Genet , vol.54 , pp. 45-51
    • Weissörtel, R.1    Strom, T.M.2    Dorr, H.G.3    Rauch, A.4    Meitinger, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.