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Volumn 143, Issue 7, 2007, Pages 746-751

Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems

Author keywords

16qter duplication; 2pter deletion; FISH; Microarray comparative genomic hybridization; Unbalanced translocation

Indexed keywords

DNA;

EID: 34247237130     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31645     Document Type: Article
Times cited : (9)

References (11)
  • 2
    • 3042542935 scopus 로고    scopus 로고
    • Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism
    • Castermans D, Wilquet V, Steyaert J, Van de Ven W, Fryns JP, Devriendt K. 2004. Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism. Autism 8:141-161.
    • (2004) Autism , vol.8 , pp. 141-161
    • Castermans, D.1    Wilquet, V.2    Steyaert, J.3    Van de Ven, W.4    Fryns, J.P.5    Devriendt, K.6
  • 3
    • 3042542935 scopus 로고    scopus 로고
    • Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism
    • Czako M, Riegel M, Morava E, Bajnoczky K, Kosztolanyi G. 2004. Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism. Autism 8:141-161.
    • (2004) Autism , vol.8 , pp. 141-161
    • Czako, M.1    Riegel, M.2    Morava, E.3    Bajnoczky, K.4    Kosztolanyi, G.5
  • 4
    • 0025058104 scopus 로고
    • An apparent de novo terminal deletion of chromosome 2 (pter-p24)
    • Francis G, Flannery D, Byrd J, Fisher S. 1990. An apparent de novo terminal deletion of chromosome 2 (pter-p24). J Med Genet 27:137-138.
    • (1990) J Med Genet , vol.27 , pp. 137-138
    • Francis, G.1    Flannery, D.2    Byrd, J.3    Fisher, S.4
  • 5
    • 0030736423 scopus 로고    scopus 로고
    • Myelin transcription factor 1 (Myt1) of the oligodendrocyte lineage, along with a closely related CCHC zinc finger, is expressed in developing neurons in the mammalian central nervous system
    • Kim J, Armstrong RC, Agoston D, Robinsky A, Wiese C, Nagle J, Hudson LD. 1997. Myelin transcription factor 1 (Myt1) of the oligodendrocyte lineage, along with a closely related CCHC zinc finger, is expressed in developing neurons in the mammalian central nervous system. J Neurosci Res 50:272-290.
    • (1997) J Neurosci Res , vol.50 , pp. 272-290
    • Kim, J.1    Armstrong, R.C.2    Agoston, D.3    Robinsky, A.4    Wiese, C.5    Nagle, J.6    Hudson, L.D.7
  • 6
    • 0035878402 scopus 로고    scopus 로고
    • Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein
    • Kremmidiotis G, Gardner AE, Settasatian C, Savoia A, Sutherland GR, Callen DF. 2001. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Genomics 76:58-65.
    • (2001) Genomics , vol.76 , pp. 58-65
    • Kremmidiotis, G.1    Gardner, A.E.2    Settasatian, C.3    Savoia, A.4    Sutherland, G.R.5    Callen, D.F.6
  • 9
    • 0035989137 scopus 로고    scopus 로고
    • Nulp1, a novel basic helix-loop-helix protein expressed broadly during early embryonic organogenesis and prominently in developing dorsal root ganglia
    • Olsson M, Durbeej M, Ekblom P, Hjalt T. 2002. Nulp1, a novel basic helix-loop-helix protein expressed broadly during early embryonic organogenesis and prominently in developing dorsal root ganglia. Cell Tis Res 308:361-370.
    • (2002) Cell Tis Res , vol.308 , pp. 361-370
    • Olsson, M.1    Durbeej, M.2    Ekblom, P.3    Hjalt, T.4
  • 10
    • 33745226965 scopus 로고    scopus 로고
    • Subtelomere FISH analysis of 11,688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
    • Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AH, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11,688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489.
    • (2006) J Med Genet , vol.43 , pp. 478-489
    • Ravnan, J.B.1    Tepperberg, J.H.2    Papenhausen, P.3    Lamb, A.H.4    Hedrick, J.5    Eash, D.6    Ledbetter, D.H.7    Martin, C.L.8
  • 11
    • 0019901038 scopus 로고
    • Human chromosome 2 rod/ring mosaicism: Probable origin by prezygotic breakage and intrachromosomal exchange
    • Wyandt H, Kasprzak R, Lamb A, Willson K, Wilson W, Kelley T. 1982. Human chromosome 2 rod/ring mosaicism: Probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet Cell Genet 33:222-231.
    • (1982) Cytogenet Cell Genet , vol.33 , pp. 222-231
    • Wyandt, H.1    Kasprzak, R.2    Lamb, A.3    Willson, K.4    Wilson, W.5    Kelley, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.