S. van Soest

发表

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.

L. Sandkuijl, A. Bergen, A. Westerveld, 1994, Genomics.

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

P. D. de Jong, J. Wijnholds, A. Plomp, 2003, Survey of ophthalmology.

Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

P. D. de Jong, A. Plomp, A. Bergen, 2003, Investigative ophthalmology & visual science.

A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

L. Sandkuijl, A. Bergen, L. Sandkuijl, 1997, Genome research.

Retinitis pigmentosa: defined from a molecular point of view.

P. D. de Jong, A. Bergen, A. Westerveld, 1999, Survey of ophthalmology.

Prolonged fluid shear stress induces a distinct set of endothelial cell genes, most specifically lung Krüppel-like factor (KLF2).

P. D. de Groot, R. Dekker, A. Horrevoets, 2002, Blood.

Integrated genetic and physical map of the 1q31→q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes

P. D. de Jong, J. Heckenlively, A. Bergen, 1999, Cytogenetic and Genome Research.

In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation.

R. Reneman, M. Daemen, A. Hoeks, 2004, Ultrasound in medicine & biology.

Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membrane.

P. D. de Jong, W. Kamphuis, A. Bergen, 2007, Molecular vision.

Functional annotation of the human retinal pigment epithelium transcriptome

A. Verkerk, P. J. van der Spek, T. Gorgels, 2009, BMC Genomics.

Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.

R. T. Smith, C. Klaver, P. D. de Jong, 2008, Investigative ophthalmology & visual science.

Global gene expression profiling of ischemic preconditioning in the rat retina

W. Kamphuis, A. Bergen, F. Dijk, 2007, Molecular vision.

Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium.

F. Riemslag, P. D. de Jong, L. I. van den Born, 1994, American journal of ophthalmology.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

A. Deutman, A. D. den Hollander, H. Brunner, 1999, Nature Genetics.

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

J. Wijnholds, A. Plomp, A. Bergen, 2003, European Journal of Human Genetics.

Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).

A. Bergen, A. Westerveld, L. I. van den Born, 1996, Cytogenetics and Cell Genetics.