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Volumn 51, Issue 4, 2008, Pages 322-324

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients

Author keywords

Isolated imprinting mutations; Methylation specific PCR; PEG1 MEST; Silver Russell syndrome

Indexed keywords

ARTICLE; CHROMOSOME 7Q; GENE LOCUS; GENOME IMPRINTING; HUMAN; POLYMERASE CHAIN REACTION; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 47549103482     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.05.001     Document Type: Article
Times cited : (16)

References (9)
  • 2
    • 0035168178 scopus 로고    scopus 로고
    • A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
    • Hannula K., Lipsanen-Nyman M., Kontiokari T., and Kere J. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am. J. Hum. Genet. 68 (2001) 247-253
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 247-253
    • Hannula, K.1    Lipsanen-Nyman, M.2    Kontiokari, T.3    Kere, J.4
  • 4
    • 14044264193 scopus 로고    scopus 로고
    • Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays
    • Kim Y., Kim S.-S., Kim G., Park S., Park I.S., and Yoo H.W. Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays. Clin. Genet. 67 (2004) 267-269
    • (2004) Clin. Genet. , vol.67 , pp. 267-269
    • Kim, Y.1    Kim, S.-S.2    Kim, G.3    Park, S.4    Park, I.S.5    Yoo, H.W.6
  • 7
    • 0037534869 scopus 로고    scopus 로고
    • A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7
    • Moore M.W., Dietz L.G., Tirtorahardjo B., and Cotter P.D. A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7. Hum. Mutat. 21 (2003) 645-648
    • (2003) Hum. Mutat. , vol.21 , pp. 645-648
    • Moore, M.W.1    Dietz, L.G.2    Tirtorahardjo, B.3    Cotter, P.D.4
  • 9
    • 35348901901 scopus 로고    scopus 로고
    • Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    • Temple I.K., Shrubb V., Lever M., Bullmann H., and Mackay D.J.G. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J. Med. Genet. 44 (2007) 637-640
    • (2007) J. Med. Genet. , vol.44 , pp. 637-640
    • Temple, I.K.1    Shrubb, V.2    Lever, M.3    Bullmann, H.4    Mackay, D.J.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.