Publications by authors named "Karen Buysse"

19Publications

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

Prenat Diagn 2014 Apr 6;34(4):402-5. Epub 2014 Feb 6.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/pd.4312DOI Listing
April 2014

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Am J Med Genet A 2011 Aug 7;155A(8):1857-64. Epub 2011 Jul 7.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34072DOI Listing
August 2011

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

Eur J Med Genet 2009 Nov-Dec;52(6):398-403. Epub 2009 Sep 16.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.002DOI Listing
February 2010

Unusual 8p inverted duplication deletion with telomere capture from 8q.

Eur J Med Genet 2009 Jan-Feb;52(1):31-6. Epub 2008 Nov 17.

Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2008.10.007DOI Listing
April 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome.

Am J Med Genet A 2008 May;146A(10):1330-4

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32267DOI Listing
May 2008

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.

Eur J Med Genet 2005 Jul-Sep;48(3):301-9

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.014DOI Listing
November 2005