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Volumn 51, Issue 2, 2010, Pages 215-217

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

Author keywords

Comparative genomic hybridization; Deletion; Dysmorphic features; Fluorescent in situ hybridization; Subtelomeric rearrangement

Indexed keywords


EID: 77952853365     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195731     Document Type: Article
Times cited : (4)

References (7)
  • 1
    • 0035746692 scopus 로고    scopus 로고
    • Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
    • Fan YS, Zhang Y, Speevak M, Farrell S, Jung J, Siu V, 2001. Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genetics in Medicine 3: 416-421.
    • (2001) Genetics in Medicine , vol.3 , pp. 416-421
    • Fan, Y.S.1    Zhang, Y.2    Speevak, M.3    Farrell, S.4    Jung, J.5    Siu, V.6
  • 3
    • 0030962383 scopus 로고    scopus 로고
    • Molecular-cytogenetic detection of a deletion of 1p36.3 leads to arevised estimate of the frequency of subtelomeric rearrangements in idiopathic mental retardation
    • Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, et al. 1997. Molecular-cytogenetic detection of a deletion of 1p36.3 leads to arevised estimate of the frequency of subtelomeric rearrangements in idiopathic mental retardation. J Med Genet 34: 314-317.
    • (1997) J Med Genet , vol.34 , pp. 314-317
    • Giraudeau, F.1    Aubert, D.2    Young, I.3    Horsley, S.4    Knight, S.5    Kearney, L.6
  • 5
    • 12744278217 scopus 로고    scopus 로고
    • Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness
    • Karnebeek CDM, Jansweijer M, Leenders A, Offringa M, Hennekam R, 2005. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13, 6-25.
    • (2005) Eur J Hum Genet , vol.13 , pp. 6-25
    • Karnebeek, C.D.M.1    Jansweijer, M.2    Leenders, A.3    Offringa, M.4    Hennekam, R.5
  • 6
    • 0034809237 scopus 로고    scopus 로고
    • Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
    • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A, 2001. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 109: 286-94.
    • (2001) Hum Genet , vol.109 , pp. 286-294
    • Riegel, M.1    Baumer, A.2    Jamar, M.3    Delbecque, K.4    Herens, C.5    Verloes, A.6    Schinzel, A.7
  • 7
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer LG, Lupski JR, 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34: 297-329.
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.