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Volumn 20, Issue 1, 2005, Pages 158-162

Chromosomal instability in two siblings with gonad deficiency: Case report

Author keywords

Chromosomal rearrangement; Gonadal deficiency; Premature ovarian failure

Indexed keywords

ALPHA FETOPROTEIN;

EID: 12444285856     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh584     Document Type: Article
Times cited : (5)

References (12)
  • 1
    • 0022570280 scopus 로고
    • Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia
    • Aurias A and Dutrillaux B (1986) Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia. Hum Genet 72,210-214.
    • (1986) Hum. Genet. , vol.72 , pp. 210-214
    • Aurias, A.1    Dutrillaux, B.2
  • 3
    • 19244363055 scopus 로고    scopus 로고
    • Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: Analysis of four FRAXE families with mild mental retardation in males
    • Biancalana V, Taine L, Bouix JC, Finck S, Chauvin A, De Verneuil H, Knight SJ, Stoll C, Lacombe D and Mandel JL (1996) Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am J Hum Genet 59,847-854.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 847-854
    • Biancalana, V.1    Taine, L.2    Bouix, J.C.3    Finck, S.4    Chauvin, A.5    De Verneuil, H.6    Knight, S.J.7    Stoll, C.8    Lacombe, D.9    Mandel, J.L.10
  • 4
    • 0031809893 scopus 로고    scopus 로고
    • Fragile X premutation screening in women with premature ovarian failure
    • Conway GS, Payne NN, Webb J, Murray A and Jacobs PA (1998) Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 13,1184-1187.
    • (1998) Hum. Reprod. , vol.13 , pp. 1184-1187
    • Conway, G.S.1    Payne, N.N.2    Webb, J.3    Murray, A.4    Jacobs, P.A.5
  • 6
    • 0035012270 scopus 로고    scopus 로고
    • Y chromosome microdeletions and alterations of spermatogenesis
    • Foresta C, Moro E and Ferlin A (2001) Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22,226-239.
    • (2001) Endocr. Rev. , vol.22 , pp. 226-239
    • Foresta, C.1    Moro, E.2    Ferlin, A.3
  • 9
  • 10
    • 0022218407 scopus 로고
    • Significance of acquired nonrandom 7/14 translocations
    • Reddy KS and Thomas IM (1985) Significance of acquired nonrandom 7/14 translocations. Am J Med Genet 22,305-310.
    • (1985) Am. J. Med. Genet. , vol.22 , pp. 305-310
    • Reddy, K.S.1    Thomas, I.M.2
  • 11
    • 0034522229 scopus 로고    scopus 로고
    • Premature ovarian failure in the fragile X syndrome
    • Sherman SL (2000) Premature ovarian failure in the fragile X syndrome. Am J Med Genet 97,189-194.
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 189-194
    • Sherman, S.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.