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Volumn 397, Issue 3, 2006, Pages 245-248

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

Author keywords

FMR2; FMR3; Fragile site; FRAXE; Mental retardation; XLMR

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CPG ISLAND; CYTOGENETICS; FMR2 GENE; FMR3 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME LINKED DISORDER;

EID: 33644981020     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2005.12.089     Document Type: Article
Times cited : (6)

References (10)
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  • 2
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    • Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles
    • T.C. Brown, J.C. Tarleton, R.C.P. Go, J.W. Longshore, and M. Descartes Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles Am. J. Med. Genet. 73 1997 447 455
    • (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
  • 3
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    • J. Crawford, K.M. Lower, R.C. Hennekam, H. Van Esch, A. Megarbane, S.A. Lynch, G. Turner, J. Gecz, Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS): identification of a novel, de novo PHF6 mutation in a female patient, J. Med. Genet. 25 (2005) (Epub ahead of print).
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    • The FMR2 gene, FRAXE and non-specific X-linked mental retardation: Clinical and molecular aspects
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    • Gécz, J.1
  • 5
    • 0033790152 scopus 로고    scopus 로고
    • FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
    • J. Gécz FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations J. Med. Genet. 37 2000 782 784
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  • 7
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    • The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay
    • M.M. Mazzocco, G.F. Myers, J.L. Hammer, R. Panoscha, B.K. Shapiro, and A.L. Reiss The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay J. Pediatr. 132 1998 795 801
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    • Mazzocco, M.M.1    Myers, G.F.2    Hammer, J.L.3    Panoscha, R.4    Shapiro, B.K.5    Reiss, A.L.6
  • 8
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    • Microdeletions in FMR2 may be a significant cause of premature ovarian failure
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    • Murray, A.1    Webb, J.2    Dennis, N.3    Conway, G.4    Morton, N.5
  • 9
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    • A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males
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    • Santos, C.B.1    Costa Lima, M.A.2    Pimentel, M.M.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.