Sørensen KM - Search Results

1

Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.

Sørensen KM, Agergaard P, Olesen C, Andersen PS, Larsen LA, Ostergaard JR, Schouten JP, Christiansen M. Sørensen KM, et al. J Mol Diagn. 2010 Mar;12(2):147-51. doi: 10.2353/jmoldx.2010.090099. Epub 2010 Jan 14. J Mol Diagn. 2010. PMID: 20075206 Free PMC article.

2

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

Sørensen KM, Andersen PS, Larsen LA, Schwartz M, Schouten JP, Nygren AO. Sørensen KM, et al. Anal Chem. 2008 Dec 1;80(23):9363-8. doi: 10.1021/ac801688c. Anal Chem. 2008. PMID: 19551952

3

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.

Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA. Sørensen KM, et al. Am J Med Genet A. 2012 Apr;158A(4):720-5. doi: 10.1002/ajmg.a.35214. Epub 2012 Mar 1. Am J Med Genet A. 2012. PMID: 22383218

4

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study.

Agergaard P, Olesen C, Østergaard JR, Christiansen M, Sørensen KM. Agergaard P, et al. Among authors: sorensen km. Am J Med Genet A. 2012 Mar;158A(3):498-508. doi: 10.1002/ajmg.a.34250. Epub 2011 Dec 21. Am J Med Genet A. 2012. PMID: 22190294

5

Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review.

Agergaard P, Hebert A, Sørensen KM, Østergaard JR, Olesen C. Agergaard P, et al. Among authors: sorensen km. Eur J Med Genet. 2011 Jan-Feb;54(1):3-8. doi: 10.1016/j.ejmg.2010.09.016. Epub 2010 Oct 20. Eur J Med Genet. 2011. PMID: 20965293

6

Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems.

Sørensen KM, Jespersgaard C, Vuust J, Hougaard D, Nørgaard-Pedersen B, Andersen PS. Sørensen KM, et al. Genet Test. 2007 Spring;11(1):65-71. doi: 10.1089/gte.2006.0503. Genet Test. 2007. PMID: 17394394

7

Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations.

Agergaard P, Olesen C, Østergaard JR, Christiansen M, Sørensen KM. Agergaard P, et al. Among authors: sorensen km. Am J Med Genet A. 2012 Mar;158A(3):509-13. doi: 10.1002/ajmg.a.34441. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302736

8

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. Andersen PS, et al. Among authors: sorensen km. Hum Mutat. 2009 Mar;30(3):363-70. doi: 10.1002/humu.20862. Hum Mutat. 2009. PMID: 19035361

9

Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry.

Agergaard P, Hebert A, Bjerre J, Sørensen KM, Olesen C, Ostergaard JR. Agergaard P, et al. Among authors: sorensen km. Clin Epidemiol. 2011 Feb 16;3:61-6. doi: 10.2147/CLEP.S15627. Clin Epidemiol. 2011. PMID: 21386975 Free PMC article.

10

Whole Genome Amplification from Blood Spot Samples.

Sørensen KM. Sørensen KM. Methods Mol Biol. 2015;1347:163-78. doi: 10.1007/978-1-4939-2990-0_12. Methods Mol Biol. 2015. PMID: 26374317

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