메뉴 건너뛰기




Volumn 64, Issue 2, 1996, Pages 256-260

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females

Author keywords

expansion; fragile X; mutation; repeat sequence disorder

Indexed keywords

ARTICLE; DIZYGOTIC TWINS; FRAGILE X SYNDROME; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; MATERNAL AGE; PREGNANCY COMPLICATION; PRIORITY JOURNAL;

EID: 0029896679     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<256::AID-AJMG4>3.0.CO;2-S     Document Type: Article
Times cited : (30)

References (21)
  • 1
    • 0028843825 scopus 로고
    • Population dynamic of a meiotic/ mitotic expansion model for the fragile X syndrome
    • Ashley AE, Sherman SL (1995): Population dynamic of a meiotic/ mitotic expansion model for the fragile X syndrome. Am J Hum Gen 57:1414-1425.
    • (1995) Am J Hum Gen , vol.57 , pp. 1414-1425
    • Ashley, A.E.1    Sherman, S.L.2
  • 2
    • 0026751517 scopus 로고
    • Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
    • Devys D, Biancalana V, Rousseau F, Boue J, Mandel JL, Oberlé I (1992): Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet 43:208-216.
    • (1992) Am J Med Genet , vol.43 , pp. 208-216
    • Devys, D.1    Biancalana, V.2    Rousseau, F.3    Boue, J.4    Mandel, J.L.5    Oberlé, I.6
  • 7
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G, Kretz C, Mandel JL (1992): Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet 29:794-801.
    • (1992) J Med Genet , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3    Kretz, C.4    Mandel, J.L.5
  • 8
    • 0028133504 scopus 로고
    • Precursor arrays for triplet repeat expansion at the fragile X locus
    • Hirst MC, Grewal PK, Davies KE (1994): Precursor arrays for triplet repeat expansion at the fragile X locus. Human Molec Genet 3: 1553-1560.
    • (1994) Human Molec Genet , vol.3 , pp. 1553-1560
    • Hirst, M.C.1    Grewal, P.K.2    Davies, K.E.3
  • 9
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst CB, Warren ST (1994): Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 10
    • 0027179836 scopus 로고
    • Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation
    • Mornet E, Jokic M, Bogyo A, Tejada I, Deluchat C, Boue J, Boue A (1993): Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation. Clin Genet 43:157-159.
    • (1993) Clin Genet , vol.43 , pp. 157-159
    • Mornet, E.1    Jokic, M.2    Bogyo, A.3    Tejada, I.4    Deluchat, C.5    Boue, J.6    Boue, A.7
  • 12
    • 0023712545 scopus 로고
    • Investigation of the twinning rate in families with the fragile X syndrome
    • Sherman SL, Turner G, Sheffield L, Laing S, Robinson H (1988): Investigation of the twinning rate in families with the fragile X syndrome. Am J Med Genet 30:625-631.
    • (1988) Am J Med Genet , vol.30 , pp. 625-631
    • Sherman, S.L.1    Turner, G.2    Sheffield, L.3    Laing, S.4    Robinson, H.5
  • 13
    • 0026057783 scopus 로고
    • A collaborative prospective study of the fragile X syndrome: A request for participation
    • Sherman SL (1991): A collaborative prospective study of the fragile X syndrome: A request for participation. Am J Med Genet 38: 396-399.
    • (1991) Am J Med Genet , vol.38 , pp. 396-399
    • Sherman, S.L.1
  • 14
    • 0028236037 scopus 로고
    • Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses
    • Sherman SL, contributing authors (1994): Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. Am J Med Genet 51:503-506.
    • (1994) Am J Med Genet , vol.51 , pp. 503-506
    • Sherman, S.L.1
  • 15
    • 0027525069 scopus 로고
    • Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
    • Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993): Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53:1217-1228.
    • (1993) Am J Hum Genet , vol.53 , pp. 1217-1228
    • Snow, K.1    Doud, L.K.2    Hagerman, R.3    Pergolizzi, R.G.4    Erster, S.H.5    Thibodeau, S.N.6
  • 16
    • 0028074287 scopus 로고
    • Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
    • Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN (1994): Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Human Molecular Genetics 3:1543-1551.
    • (1994) Human Molecular Genetics , vol.3 , pp. 1543-1551
    • Snow, K.1    Tester, D.J.2    Kruckeberg, K.E.3    Schaid, D.J.4    Thibodeau, S.N.5
  • 17
    • 0027985106 scopus 로고
    • Dizygous twinning and premature menopause in fragile X syndrome
    • Turner G, Robinson H, Wake S, Martin N (1994): Dizygous twinning and premature menopause in fragile X syndrome. Lancet 344:1500.
    • (1994) Lancet , vol.344 , pp. 1500
    • Turner, G.1    Robinson, H.2    Wake, S.3    Martin, N.4
  • 19
    • 0027310525 scopus 로고
    • Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptual trinucleotide repeat expansion
    • Wöhrle D, Hennig I, Vogel W, Steinbach P (1993): Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptual trinucleotide repeat expansion. Nature Genet 4: 140-142.
    • (1993) Nature Genet , vol.4 , pp. 140-142
    • Wöhrle, D.1    Hennig, I.2    Vogel, W.3    Steinbach, P.4
  • 21
    • 0029017085 scopus 로고
    • Fragile X gene instability: Anchoring AGGs and linked microsatellites
    • abstract
    • Zhong N, Yang W, Dobkin C, Brown WT (1995): Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361 (abstract).
    • (1995) Am J Hum Genet , vol.57 , pp. 351-361
    • Zhong, N.1    Yang, W.2    Dobkin, C.3    Brown, W.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.