Karina Meden Sørensen

Summary

Affiliation: Statens Serum Institut
Country: Denmark

Publications

  1. ncbi Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems
    Karina Meden Sørensen
    Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen S, Denmark
    Genet Test 11:65-71. 2007
  2. pmc Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples
    Karina M Sørensen
    Department of Clinical Biochemistry and Immunology 85 232, Statens Serum Institut, Artillerivej 5, 2300 Kbh S, Denmark
    J Mol Diagn 12:147-51. 2010
  3. doi Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material
    Karina Meden Sørensen
    National Center for Antimicrobials and Infection Control, Statens Serum Institut, Artillerivej 5, DK 2300 Copenhagen S, Denmark
    Anal Chem 80:9363-8. 2008
  4. doi Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients
    Karina Meden Sørensen
    Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
    Am J Med Genet A 158:720-5. 2012

Detail Information

Publications4

  1. ncbi Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems
    Karina Meden Sørensen
    Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen S, Denmark
    Genet Test 11:65-71. 2007
    ..System choice should be based on requirements for system flexibility, product yield, and use in subsequent analysis...
  2. pmc Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples
    Karina M Sørensen
    Department of Clinical Biochemistry and Immunology 85 232, Statens Serum Institut, Artillerivej 5, 2300 Kbh S, Denmark
    J Mol Diagn 12:147-51. 2010
    ..This allows for use of DBSS samples in a retrospective study of 22q11.2 deletion among certain manifestations associated with DiGeorge Syndrome...
  3. doi Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material
    Karina Meden Sørensen
    National Center for Antimicrobials and Infection Control, Statens Serum Institut, Artillerivej 5, DK 2300 Copenhagen S, Denmark
    Anal Chem 80:9363-8. 2008
    ..3 ng/microL (1.6 ng total). This broadens the diagnostic perspectives of samples of DBSS allowing for copy number variation analysis in general and particularly testing for CAH...
  4. doi Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients
    Karina Meden Sørensen
    Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
    Am J Med Genet A 158:720-5. 2012
    ..We conclude that the MLPA assay detects clinically relevant CNVs and suggest that it could be used within pediatric cardiology as a first tier screen to detect clinically relevant CNVs and identify syndromic patients at an early stage...