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Volumn 36, Issue 10, 1999, Pages 767-770

Microdeletions in FMR2 may be a significant cause of premature ovarian failure

Author keywords

Deletion; FMR2; Premature ovarian failure

Indexed keywords

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENE DELETION; GENETIC TRANSCRIPTION; HUMAN; MAJOR CLINICAL STUDY; OVARY DISEASE; PRIORITY JOURNAL; SCREENING TEST; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT;

EID: 0032826352     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.10.767     Document Type: Article
Times cited : (56)

References (20)
  • 1
    • 0027203684 scopus 로고
    • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
    • Knight SJL, Flannery AV, Hirst MC, et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993;74:127-34.
    • (1993) Cell , vol.74 , pp. 127-134
    • Knight, S.J.L.1    Flannery, A.V.2    Hirst, M.C.3
  • 2
    • 0029984116 scopus 로고    scopus 로고
    • A survey of FRAXE allele sizes in three populations
    • Zhong N, Ju W, Curley D, et al. A survey of FRAXE allele sizes in three populations. Am J Med Genet 1996;64:415-19.
    • (1996) Am J Med Genet , vol.64 , pp. 415-419
    • Zhong, N.1    Ju, W.2    Curley, D.3
  • 3
    • 0027968066 scopus 로고
    • Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data
    • Hamel BCJ, Smits APT, Degraaff E, et al. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet 1994;55:923-31.
    • (1994) Am J Hum Genet , vol.55 , pp. 923-931
    • Hamel, B.C.J.1    Smits, A.P.T.2    Degraaff, E.3
  • 5
    • 16944362821 scopus 로고    scopus 로고
    • Clinical, cytogenetic, and molecular analysis of three families with FRAXE
    • Barnicoat AJ, Wang Q, Turk J, et al. Clinical, cytogenetic, and molecular analysis of three families with FRAXE. J Med Genet 1997;34:13-18.
    • (1997) J Med Genet , vol.34 , pp. 13-18
    • Barnicoat, A.J.1    Wang, Q.2    Turk, J.3
  • 6
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene FMR2, associated with FRAXE mental retardation
    • Gecz J, Gedeon AK, Sutherland GR, Mulley JC. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 1996;13:105-9.
    • (1996) Nat Genet , vol.13 , pp. 105-109
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.3    Mulley, J.C.4
  • 7
    • 0030138905 scopus 로고    scopus 로고
    • Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
    • Gu Y, Shen Y, Gibbs RA, Nelson DL. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 1996;13:109-13.
    • (1996) Nat Genet , vol.13 , pp. 109-113
    • Gu, Y.1    Shen, Y.2    Gibbs, R.A.3    Nelson, D.L.4
  • 8
    • 0031239275 scopus 로고    scopus 로고
    • Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators
    • Gecz J, Bielby S, Sutherland GR, Mulley JC, Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. Genomics 1997;44:201-14.
    • (1997) Genomics , vol.44 , pp. 201-214
    • Gecz, J.1    Bielby, S.2    Sutherland, G.R.3    Mulley, J.C.4
  • 9
    • 0028937577 scopus 로고
    • Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE
    • Gedeon AK, Keinanen M, Ades LC, et al. Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am J Hum Genet 1995;56:907-14.
    • (1995) Am J Hum Genet , vol.56 , pp. 907-914
    • Gedeon, A.K.1    Keinanen, M.2    Ades, L.C.3
  • 12
    • 0029945363 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities
    • Holden JJA, JulienInalsingh C, Chalifoux M, et al. Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. Am J Med Genet 1996;64:420-4.
    • (1996) Am J Med Genet , vol.64 , pp. 420-424
    • Holden, J.J.A.1    Julieninalsingh, C.2    Chalifoux, M.3
  • 13
    • 0030735130 scopus 로고    scopus 로고
    • Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles
    • Brown TC, Tarleton JC, Go RCP, Longshore JW, Descartes M. Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles. Am J Med Genet 1997;73:447-55.
    • (1997) Am J Med Genet , vol.73 , pp. 447-455
    • Brown, T.C.1    Tarleton, J.C.2    Go, R.C.P.3    Longshore, J.W.4    Descartes, M.5
  • 15
    • 0031809893 scopus 로고    scopus 로고
    • Fragile X premutation screening in women with premature ovarian failure
    • Conway GS, Payne NN, Webb J, Murray A, Jacobs PA. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998;13:1184-8.
    • (1998) Hum Reprod , vol.13 , pp. 1184-1188
    • Conway, G.S.1    Payne, N.N.2    Webb, J.3    Murray, A.4    Jacobs, P.A.5
  • 16
    • 0031857007 scopus 로고    scopus 로고
    • Studies of FRAXA and FRAXE in women with premature ovarian failure
    • Murray A, Webb J, Grimley S, Conway G, Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet 1998;35:637-40.
    • (1998) J Med Genet , vol.35 , pp. 637-640
    • Murray, A.1    Webb, J.2    Grimley, S.3    Conway, G.4    Jacobs, P.5
  • 17
    • 0029977269 scopus 로고    scopus 로고
    • Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
    • Murray A, Youings S, Dennis N, et al. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996;5:727-35.
    • (1996) Hum Mol Genet , vol.5 , pp. 727-735
    • Murray, A.1    Youings, S.2    Dennis, N.3
  • 18
    • 10544236904 scopus 로고    scopus 로고
    • Dynamic mutation loci: Allele distributions in different populations
    • Richards RI, Crawford J, Narahara K, et al. Dynamic mutation loci: allele distributions in different populations. Ann Hum Genet 1996;60:391-400.
    • (1996) Ann Hum Genet , vol.60 , pp. 391-400
    • Richards, R.I.1    Crawford, J.2    Narahara, K.3
  • 19
    • 0027074470 scopus 로고
    • A mechanism for deletion formation in DNA by human cell extracts: The involvement of short sequence repeats
    • Thacker J, Chalk J, Ganesh A, North P. A mechanism for deletion formation in DNA by human cell extracts: the involvement of short sequence repeats. Nucleic Acids Res 1992;20:6183-8.
    • (1992) Nucleic Acids Res , vol.20 , pp. 6183-6188
    • Thacker, J.1    Chalk, J.2    Ganesh, A.3    North, P.4
  • 20
    • 0033515496 scopus 로고    scopus 로고
    • Fragile X premutation is a significant risk factor for premature ovarian failure. (The international collaborative POF in Fragile X study.)
    • Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure. (The international collaborative POF in Fragile X study.) Am J Med Genet 1999;83:322-5.
    • (1999) Am J Med Genet , vol.83 , pp. 322-325
    • Allingham-Hawkins, D.J.1    Babul-Hirji, R.2    Chitayat, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.