R. Vervoort
Vlaams Instituut voor Biotechnologie(BE)KU Leuven(BE)
Publications by Year
Research Areas
Retinal Development and Disorders, Carbohydrate Chemistry and Synthesis, Glycosylation and Glycoproteins Research, Lysosomal Storage Disorders Research, Retinal Diseases and Treatments
Most-Cited Works
- → Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa(2000)439 cited
- → A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa(2002)245 cited
- → RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin(2005)111 cited
- → Mutations ofRPGR in X-linked retinitis pigmentosa (RP3)(2002)88 cited
- → A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene(1998)70 cited
- → Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15(2000)66 cited
- Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.(1996)
- → Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis(1994)37 cited
- → Three novel mutations of theRPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa(2001)36 cited
- → Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote(1998)30 cited