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Browsing by Author Pfundt, R.

Full Text	Issue Date	Title	Author(s)
	2012	Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.	Faas, B.H.W.; Feenstra, I.; Eggink, A.J., et al
	2006	A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.	Ruiter, M.; Koolen, D.A.; Pfundt, R., et al
	2005	Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.	Schraders, M.; Pfundt, R.; Straatman, H.M.P.M., et al
	2007	A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.	Vermeer, S.; Koolen, D.A.; Visser, G., et al
	2012	A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.	Molin, A.M.; Andrieux, J.; Koolen, D.A., et al
	2012	Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome	Glaudemans, B.; Yntema, H.G.; San-Cristobal, P., et al
	2011	De novo copy number variants associated with intellectual disability have a paternal origin and age bias	Hehir, J.Y.; Rodriguez-Santiago, B.; Vissers, L.E.L.M., et al
	2012	Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies	Nowakowska, B.A.; de Leeuw, N.; Ruivenkamp, C.A., et al
	2011	The phenotype of recurrent 10q22q23 deletions and duplications	Bon, B.W. van; Balciuniene, J.; Fruhman, G., et al
	2007	Pure subtelomeric microduplications as a cause of mental retardation.	Ruiter, E.M.; Koolen, D.A.; Kleefstra, T., et al
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M., et al
	2008	Reduced purifying selection prevails over positive selection in human copy number variant evolution.	Nguyen, D.Q.; Webber, C.; Hehir-Kwa, J., et al
	2012	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.	Jongmans, M.C.J.; Verwiel, E.T.P.; Heijdra, Y.F., et al
	2010	Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.	Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de, et al
	2011	SNP array analysis in constitutional and cancer genome diagnostics-copy number variants, genotyping and quality control.	Leeuw, N. de; Hehir-Kwa, J.Y.; Simons, A., et al
	2012	Structural genomic variation in intellectual disability.	Pfundt, R.; Veltman, J.A.
	2010	Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies.	Ruiter, M.; Pfundt, R.; Koolen, D.A., et al
	2007	Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.	Bon, B.W.M. van; Koolen, D.A.; Feenstra, I., et al
	2006	Targeted disruption of the synovial sarcoma-associated SS18 gene causes early embryonic lethality and affects PPARBP expression.	Bruijn, D.R.H. de; Peters, W.J.M; Chuva de Sousa Lopes, S.M., et al
	2010	Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.	Volpi, L.; Roversi, G.; Colombo, E.A., et al