연구동향 분석

Novel Pathogenic Variant (c.3178G〉A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing

이창우 김진경 기창석 장미애 2015년

논문상세정보
인용/피인용
' Novel Pathogenic Variant (c.3178G〉A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
  • corneliadelangesyndrome
  • exomesequencing
  • mutation
  • smc1a
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
7,672 1

0.0%

' Novel Pathogenic Variant (c.3178G〉A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing' 의 참고문헌

  • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    Musio A Nat Genet 38 : 528 ~ 530 [2006]
  • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    Musio A Nat Genet 38 528-530 [2006]
  • SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
    Liu J Hum Mutat 30 : 1535 ~ 1542 [2009]
  • SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
    Liu J Hum Mutat 30 1535-1542 [2009]
  • Natural history of aging in Cornelia de Lange syndrome
    Kline AD Am J Med Genet C Semin Med Genet 145C : 248 ~ 260 [2007]
  • Natural history of aging in Cornelia de Lange syndrome
    Kline AD Am J Med Genet C Semin Med Genet 145C 248-260 [2007]
  • NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
    Gillis LA Am J Hum Genet 75 : 610 ~ 623 [2004]
  • NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
    Gillis LA Am J Hum Genet 75 610-623 [2004]
  • Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    Deardorff MA Am J Hum Genet 80 : 485 ~ 494 [2007]
  • Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    Deardorff MA Am J Hum Genet 80 485-494 [2007]
  • Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
    Mannini L Hum Mutat 34 : 1589 ~ 1596 [2013]
  • Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
    Mannini L Hum Mutat 34 1589-1596 [2013]
  • Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
    Ansari M J Med Genet 51 : 659 ~ 668 [2014]
  • Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
    Ansari M J Med Genet 51 659-668 [2014]
  • Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance
    Kline AD Am J Med Genet A 143A : 1287 ~ 1296 [2007]
  • Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance
    Kline AD Am J Med Genet A 143A 1287-1296 [2007]
  • Cornelia de Lange syndrome, cohesin, and beyond
    Liu J Clin Genet 76 : 303 ~ 314 [2009]
  • Cornelia de Lange syndrome, cohesin, and beyond
    Liu J Clin Genet 76 303-314 [2009]
  • Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
    박경희 Journal of Korean Medical Science 25 (12) : 1821 ~ 1823 [2010]
  • Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
    박경희 Journal of Korean Medical Science 25 12 1821-1823 [2010]
  • Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations
    Park HD Ann Clin Lab Sci 40 : 20 ~ 25 [2010]
  • Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations
    Park HD Ann Clin Lab Sci 40 20-25 [2010]
  • At the heart of the chromosome: SMC proteins in action
    Hirano T Nat Rev Mol Cell Biol 7 : 311 ~ 322 [2006]
  • At the heart of the chromosome: SMC proteins in action
    Hirano, T. Nat Rev Mol Cell Biol 7 311-322 [2006]