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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
Br J Cancer. 2002 Oct 7;87(8):892-7. doi: 10.1038/sj.bjc.6600565.
Br J Cancer. 2002.
PMID: 12373605
Free PMC article.
Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
van Hagen JM, Eussen HJ, van Schooten R, van Der Geest JN, Lagers-van Haselen GC, Wouters CH, De Zeeuw CI, Gille JJ.
van Hagen JM, et al.
Genet Test. 2007 Fall;11(3):321-7. doi: 10.1089/gte.2007.0007.
Genet Test. 2007.
PMID: 17949295
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Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
Schollen E, Dequeker E, McQuaid S, Vankeirsbilck B, Michils G, Harvey J, van den Akker E, van Schooten R, Clark Z, Schrooten S, Matthijs G; DDQA Collaborative Group.
Schollen E, et al.
Hum Mutat. 2005 Jun;25(6):583-92. doi: 10.1002/humu.20182.
Hum Mutat. 2005.
PMID: 15880509
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A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.
Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Löwik CW.
Karperien M, et al.
J Clin Endocrinol Metab. 1999 Oct;84(10):3713-20. doi: 10.1210/jcem.84.10.6033.
J Clin Endocrinol Metab. 1999.
PMID: 10523019
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