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Volumn 140 A, Issue 6, 2006, Pages 644-648

Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome [4]

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; VOLTAGE GATED POTASSIUM CHANNEL;

EID: 33644860185     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31130     Document Type: Letter
Times cited : (16)

References (13)
  • 2
    • 9544220660 scopus 로고    scopus 로고
    • Mapping genomic deletions down to the base: A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
    • Duno M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. 2004. Mapping genomic deletions down to the base: A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet 115:459-467.
    • (2004) Hum Genet , vol.115 , pp. 459-467
    • Duno, M.1    Hove, H.2    Kirchhoff, M.3    Devriendt, K.4    Schwartz, M.5
  • 4
    • 0023863373 scopus 로고
    • De novo 3q/7q translocation and associated interstitial 7q35 deletion
    • Fryns JP, Kleczkowska A, Van den Berghe H. 1988. De novo 3q/7q translocation and associated interstitial 7q35 deletion. Clin Genet 33:60-62.
    • (1988) Clin Genet , vol.33 , pp. 60-62
    • Fryns, J.P.1    Kleczkowska, A.2    Van Den Berghe, H.3
  • 5
    • 9244232876 scopus 로고    scopus 로고
    • T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome
    • Kanters JK, Fanoe S, Larsen LA, Thomsen PEB, Toft E, Christiansen M. 2004. T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome. Heart Rhythm 1(3):285-292.
    • (2004) Heart Rhythm , vol.1 , Issue.3 , pp. 285-292
    • Kanters, J.K.1    Fanoe, S.2    Larsen, L.A.3    Thomsen, P.E.B.4    Toft, E.5    Christiansen, M.6
  • 6
    • 85047689493 scopus 로고    scopus 로고
    • Long QT syndrome: Novel insights into the mechanisms of cardiac arrhythmias
    • Kass RS, Moss AJ. 2003. Long QT syndrome: Novel insights into the mechanisms of cardiac arrhythmias. J Clin Invest 112(6):810-815.
    • (2003) J Clin Invest , vol.112 , Issue.6 , pp. 810-815
    • Kass, R.S.1    Moss, A.J.2
  • 7
    • 0031011310 scopus 로고    scopus 로고
    • Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis
    • Kirchhoff M, Gerdes T, Maahr J, Rose H, Lundsteen C. 1997. Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry 28:130-134.
    • (1997) Cytometry , vol.28 , pp. 130-134
    • Kirchhoff, M.1    Gerdes, T.2    Maahr, J.3    Rose, H.4    Lundsteen, C.5
  • 8
    • 0032032471 scopus 로고    scopus 로고
    • Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals
    • Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. 1998. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 31:163-173.
    • (1998) Cytometry , vol.31 , pp. 163-173
    • Kirchhoff, M.1    Gerdes, T.2    Rose, H.3    Maahr, J.4    Ottesen, A.M.5    Lundsteen, C.6
  • 13
    • 0026565771 scopus 로고
    • The interstitial deletion of bands q33-35 of long arm of chromosome 7: A review with a new case report
    • Verma RS, Conte RA, Sayegh SE, Kanjilal D. 1992. The interstitial deletion of bands q33-35 of long arm of chromosome 7: A review with a new case report. Clin Genet 41:82-86.
    • (1992) Clin Genet , vol.41 , pp. 82-86
    • Verma, R.S.1    Conte, R.A.2    Sayegh, S.E.3    Kanjilal, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.