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Volumn 41, Issue 2, 2004, Pages 113-119

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 1242269840     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.012831     Document Type: Article
Times cited : (65)

References (28)
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  • 6
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    • The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
    • Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 2001;11:1018-33.
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    • Inoue, K.1    Dewar, K.2    Katsanis, N.3    Reiter, L.T.4    Lander, E.S.5    Devon, K.L.6    Wyman, D.W.7    Lupski, J.R.8    Birren, B.9
  • 8
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen K-S, Manian P, Koeuth T, Potocki L, Zhoo Q, Chinault AC, Lee CC, Lupski JR. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997;17:154-63.
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    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992;2:292-300.
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
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    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNa duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3:223-8.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 24
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    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
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    • (1997) Am J Med Genet , vol.69 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3    Lupski, J.R.4
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.