연구동향 분석

Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome

성지연 배은정 박승만 김소연 현얘진 박성섭 성문우 2014년

논문상세정보
인용/피인용
' Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
  • exondeletion
  • jervellandlange-nielsensyndrome
  • kcnq1mutation
  • multiplexligation-dependentprobeamplification
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
7,585 0

0.0%

' Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome' 의 참고문헌

  • The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome
    Schwartz PJ Circulation 113 783-790 [2006]
  • Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    Splawski I Circulation 102 1178-1185 [2000]
  • Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome
    Zehelein J J Biol Chem 281 35397-35403 [2006]
  • Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance
    Barc J J Am Coll Cardiol 57 40-47 [2011]
  • Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data
    Richter S J Cardiovasc Electrophysiol 17 1169-1171 [2006]
  • Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden
    Winbo A Europace 14 1799-1806 [2012]
  • Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing
    Tester DJ Am J Cardiol 106 1124-1128 [2010]
  • Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity
    Giudicessi JR Circ Cardiovasc Genet 6 193-200 [2013]
  • Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome)
    Ning L Ann Noninvasive Electrocardiol 8 246-250 [2003]
  • Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
    Tyson J Hum Genet 107 499-503 [2000]
  • Moss and Adams’ heart disease in infants, children, and adolescents including the fetus and youngadult. 7th ed
    Kannankeril P 293-341 [2008]
  • Jervell and Lange-Nielsen syndrome: a Norwegian perspective
    Tranebjaerg L Am J Med Genet 89 137-146 [1999]
  • Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
    백재석 Journal of Korean Medical Science 25 10 1522-1525 [2010]
  • Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
    Eddy CA Heart Rhythm 5 1275-1281 [2008]
  • Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications
    Shinwari Z Clin Genet 83 370-374 [2013]
  • Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome
    Neyroud N Circ Res 84 290-297 [1999]
  • Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome
    Wang Z Mol Genet Metab 75 308-316 [2002]
  • Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    Tester DJ Heart Rhythm 2 507-517 [2005]
  • Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome
    Goldenberg I J Cardiovasc Electrophysiol 17 1161-1168 [2006]
  • Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene
    Kaltenbach S Clin Genet 84 78-81 [2013]
  • A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters
    Kanovsky J Heart Rhythm 7 531-533 [2010]