Marjolein Kriek

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres (2008)

Marielle E Van Gijn, Stéphan Soler, Claire De La Chapelle, Marcel Mulder, Cécile Ritorre, Marjolein Kriek, ...

The human genome; you gain some, you lose some (2007)

Kriek, Marjolein

Copy number variations (CNVs) in the human genome are inherent in both evolutionary progression as well as the etiology of disease. The introduction of this thesis will review CNVs that appear to be...

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications (2005)

Marjolein Kriek, Stefan J White, Karoly Szuhai, Jeroen Knijnenburg, Gert-Jan B Van Ommen, Johan T Den Dunnen, ...

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses (2004)

White, Stefan J ; JFA; CORA, Vink, Geraldine R, Kriek, Marjolein, Wuyts, Wim; U0031948 ;, Schouten, Jan, Bakker, Bert, ...

Genomic deletions and duplications play an important role in the etiology of human disease. Versatile tests are required to detect these rearrangements, both in research and diagnostic settings....

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

White, Stefan, Kalf, Margot, Liu, Qiang, Villerius, Michel, Engelsma, Dieuwke, Kriek, Marjolein, ...

Duplications and deletions are known to cause a number of genetic disorders, yet technical difficulties and financial considerations mean that screening for these mutations, especially duplications,...

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Lesnik Oberstein, Saskia A. J., Kriek, Marjolein, White, Stefan J., Kalf, Margot E., Szuhai, Karoly, Den Dunnen, Johan T., ...

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, and developmental delay. After detection of a...