R. Vervoort

发表

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.

G. Acland, G. Aguirre, A. Wright, 2002, Human molecular genetics.

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

A. Ciccodicola, T. Meitinger, A. Meindl, 2000, Nature Genetics.

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an

R. Vervoort, W. Lissens, I. Liebaers, 1998 .

Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

W. Sly, F. Speleman, R. Vervoort, 1996, Cytogenetics and cell genetics.

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

W. Sly, R. Vervoort, W. Lissens, 1996, American Journal of Human Genetics.

Molecular analysis of a patient with hydrops fetalis caused by β‐glucuronidase deficiency, and evidence for additional pseudogenes

R. Vervoort, W. Lissens, I. Liebaers, 1993, Human mutation.

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

W. Sly, R. Vervoort, R. Wevers, 1995, American journal of human genetics.

type 1 antithrombin deficiency and neonatal thrombosis Antithrombin-Gly 424 Arg: a novel point mutation responsible for

R. Vervoort, W. Lissens, I. Liebaers, 2011 .

Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

R. Vervoort, W. Lissens, I. Liebaers, 1994, Blood.

A Pseudodeficiency Allele ( DI 52 N ) of the Human ß-Glucuronidase Gene

W. Sly, R. Vervoort, R. Wevers, 2018 .

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

R. Vervoort, W. Lissens, I. Liebaers, 1998, Human Genetics.

Mutations of RPGR in X‐linked retinitis pigmentosa (RP3)

A. Wright, R. Vervoort, A. Wright, 2002, Human mutation.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 2002, American journal of human genetics.

Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

R. Vervoort, W. Lissens, I. Liebaers, 1998, Human Genetics.

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy

S. Seneca, R. Vervoort, W. Lissens, 1996, Journal of Inherited Metabolic Disease.

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

A. Swaroop, U. Wolfrum, A. Lennon, 2005, Human molecular genetics.

β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

W. Sly, R. Vervoort, L. Valentino, 1996, Human Genetics.

Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

R. Vervoort, J. Fryns, R. Wevers, 1997, Human Genetics.

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

R. Vervoort, W. Lissens, I. Liebaers, 1998, Human genetics.

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.

P. Sieving, A. Swaroop, A. Wright, 2000, American journal of human genetics.

Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.

N. Niikawa, R. Vervoort, A. Murakami, 2005, Molecular vision.

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

N. Niikawa, A. Wright, R. Vervoort, 2001, American journal of medical genetics.

Remapping of the RP 15 Locus for X-Linked Cone-Rod Degeneration to Xp 11 . 4p 21 . 1 , and Identification of a De Novo Insertion in the RPGR Exon ORF 15

P. Sieving, A. Swaroop, R. Vervoort, 2022 .