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Volumn , Issue , 2009, Pages

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

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EID: 84896497125     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.06.2009.1997     Document Type: Article
Times cited : (4)

References (14)
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    • Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 robertsonian translocation carrier
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  • 3
    • 0034726689 scopus 로고    scopus 로고
    • Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
    • DOI 10.1002/1096-8628(20000828)93:5<381::AID-AJMG7
    • Sutton VR, Shaffer LG. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am J Med Genet 2000; 93A: 381-7. [CrossRef] [Medline] [Web of Science] (Pubitemid 30622183)
    • (2000) American Journal of Medical Genetics , vol.93 , Issue.5 , pp. 381-387
    • Reid, S.V.1    Shaffer, L.G.2
  • 6
    • 0033665434 scopus 로고    scopus 로고
    • Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation
    • Abstract/FREE Full text
    • Wylie AA, Murphy SK, Orton TC, et al. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. Genome Res 2000; 10: 1711-18. [Abstract/FREE Full text]
    • (2000) Genome Res , vol.10 , pp. 1711-1718
    • Wylie, A.A.1    Murphy, S.K.2    Orton, T.C.3
  • 7
    • 33847240544 scopus 로고    scopus 로고
    • Methylation analysis of the intergenic differentially methylated region of DLK1-GTL2 in human
    • [CrossRef] [Medline] [Web of Science]
    • Geuns E, De TN, Hilven P, et al. Methylation analysis of the intergenic differentially methylated region of DLK1-GTL2 in human. Eur J Hum Genet 2007; 15: 352-61. [CrossRef] [Medline] [Web of Science]
    • (2007) Eur J Hum Genet , vol.15 , pp. 352-361
    • Geuns, E.1    De, T.N.2    Hilven, P.3
  • 10
    • 1942471150 scopus 로고    scopus 로고
    • Epigenetic regulation of mammalian genomic imprinting
    • DOI 10.1016/j.gde.2004.01.005, PII S0959437X04000206
    • Delaval K, Feil R. Epigenetic regulation of mammalian genomic imprinting. Curr Opin Genet Dev 2004; 14: 188-95. [CrossRef] [Medline] [Web of Science] (Pubitemid 38520147)
    • (2004) Current Opinion in Genetics and Development , vol.14 , Issue.2 , pp. 188-195
    • Delaval, K.1    Feil, R.2
  • 12
    • 4444365791 scopus 로고    scopus 로고
    • Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
    • DOI 10.1038/ng1410
    • Sparago A, Cerrato F, Vernucci M, et al. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 2004; 36: 958-60. [CrossRef] [Medline] [Web of Science] (Pubitemid 39167491)
    • (2004) Nature Genetics , vol.36 , Issue.9 , pp. 958-960
    • Sparago, A.1    Cerrato, F.2    Vernucci, M.3    Ferrero, G.B.4    Silengo, M.C.5    Riccio, A.6
  • 13
    • 0036318227 scopus 로고    scopus 로고
    • Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity
    • DOI 10.1128/MCB.22.15.5585-5592.2002
    • Moon YS, Smas CM, Lee K, et al. Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity. Mol Cell Biol 2002; 22: 5585-92. [Abstract/FREE Full text] (Pubitemid 34755767)
    • (2002) Molecular and Cellular Biology , vol.22 , Issue.15 , pp. 5585-5592
    • Moon, Y.S.1    Smas, C.M.2    Lee, K.3    Villena, J.A.4    Kim, K.-H.5    Yun, E.J.6    Sul, H.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.