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Volumn 51, Issue 4, 2008, Pages 373-381

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay

Author keywords

6p21p22 duplication; Array CGH; Epilepsy

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 6P; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; KARYOTYPE; MALE; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION;

EID: 47749096710     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.02.010     Document Type: Article
Times cited : (10)

References (9)
  • 3
    • 0035865995 scopus 로고    scopus 로고
    • De novo "pure" partial trisomy (6)(p22.1 → pter) in a chromosome 15 with an enlarged satellite, identified by microdissection
    • Engelen J.J., Marcelis C.L., Alofs M.G., Loneus W.H., Pulles-Heintzberger C.F., and Hamers A.J. De novo "pure" partial trisomy (6)(p22.1 → pter) in a chromosome 15 with an enlarged satellite, identified by microdissection. Am. J. Med. Genet. 99 (2001) 48-53
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 48-53
    • Engelen, J.J.1    Marcelis, C.L.2    Alofs, M.G.3    Loneus, W.H.4    Pulles-Heintzberger, C.F.5    Hamers, A.J.6
  • 5
    • 0034039569 scopus 로고    scopus 로고
    • Impact of our understanding of the genetic aetiology of epilepsy
    • Gardiner R.M. Impact of our understanding of the genetic aetiology of epilepsy. J. Neurol. 247 (2000) 327-334
    • (2000) J. Neurol. , vol.247 , pp. 327-334
    • Gardiner, R.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.