A. Westerveld

Publications247
h-index46
Citations7,465
Highly Influential Citations181
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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a… Expand
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
The Beckwith–Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and… Expand
Maintenance of vascular endothelial cell-specific properties after immortalization with an amphotrophic replication-deficient retrovirus containing human papilloma virus 16 E6/E7 DNA.
Primary human vascular endothelial cells were immortalized by the integration of a single DNA copy of an amphotrophic, replication-deficient retrovirus containing the E6/E7 genes of human papilloma… Expand
Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma.
BACKGROUND Neuroblastoma is a childhood tumor derived from cells of the neural crest, with a widely variable outcome. Differences in the behavior and prognosis of the tumor suggest that neuroblastoma… Expand
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps to human chromosome 11p15.5, a region that harbours a number of imprinted genes. We studied the methylation status… Expand
Mutational analysis of the human nucleotide excision repair gene ERCC1.
The human DNA repair protein ERCC1 resides in a complex together with the ERCC4, ERCC11 and XP-F correcting activities, thought to perform the 5' strand incision during nucleotide excision repair… Expand
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.
The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11p15 (BWSCR1, BWSCR2, and BWSCR3) may play a role… Expand
Retinitis pigmentosa: defined from a molecular point of view.
Retinitis pigmentosa (RP) denotes a group of hereditary retinal dystrophies, characterized by the early onset of night blindness followed by a progressive loss of the visual field. The primary defect… Expand
Molecular cloning of a human DNA repair gene
Cell strains derived from patients having a hereditary disorder associated with defects in repair of DNA damage such as xeroderma pigmentosum1,2 and mutants isolated from established rodent cell… Expand
Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10
The human excision repair gene ERCC-1 was cloned after DNA mediated gene transfer to the CHO mutant 43-3B, which is sensitive to ultraviolet light and mitomycin-C. We describe the cloning and… Expand
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