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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 aExpand
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 andExpand
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 papillomaExpand
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 neuroblastomaExpand
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 statusExpand
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 repairExpand
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 roleExpand
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 defectExpand
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 cellExpand
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 andExpand