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Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.
Kooper AJA, Faas BHW, Feuth T, Creemers JWT, Zondervan HH, Boekkooi PF, Quartero RWP, Rijnders RJP, van der Burgt I, van Kessel AG, Smits APT. Kooper AJA, et al. Among authors: van der burgt i, van kessel ag. J Mol Diagn. 2009 Jan;11(1):17-24. doi: 10.2353/jmoldx.2009.070140. Epub 2008 Dec 12. J Mol Diagn. 2009. PMID: 19074591 Free PMC article.
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. Yntema HG, et al. Among authors: van der burgt i, van roosmalen t, van bokhoven h, van den helm b. Am J Med Genet. 1999 Jul 30;85(3):305-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10398247
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG. Croonen EA, et al. Among authors: van der burgt i, van de laar im. Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321623 Free PMC article.
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Vissers LE, et al. Among authors: van der vliet w, van rijk a, van der burgt i, van ravenswaaij arts cm, van kessel ag. Am J Hum Genet. 2003 Dec;73(6):1261-70. doi: 10.1086/379977. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628292 Free PMC article.
97 results