Vervoort R - Search Results

1

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

Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Vervoort R, et al. Nat Genet. 2000 Aug;25(4):462-6. doi: 10.1038/78182. Nat Genet. 2000. PMID: 10932196

2

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF. Vervoort R, et al. Hum Mutat. 2002 May;19(5):486-500. doi: 10.1002/humu.10057. Hum Mutat. 2002. PMID: 11968081 Review.

3

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

Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF. Shu X, et al. Among authors: vervoort r. Hum Mol Genet. 2005 May 1;14(9):1183-97. doi: 10.1093/hmg/ddi129. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772089

4

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

Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD. Zhang Q, et al. Among authors: vervoort r. Hum Mol Genet. 2002 May 1;11(9):993-1003. doi: 10.1093/hmg/11.9.993. Hum Mol Genet. 2002. PMID: 11978759

5

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

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Among authors: vervoort r. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.

6

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

Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N. Yokoyama A, et al. Among authors: vervoort r. Am J Med Genet. 2001 Dec 1;104(3):232-8. Am J Med Genet. 2001. PMID: 11754050

7

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.

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A. Mears AJ, et al. Among authors: vervoort r. Am J Hum Genet. 2000 Oct;67(4):1000-3. doi: 10.1086/303091. Epub 2000 Sep 1. Am J Hum Genet. 2000. PMID: 10970770 Free PMC article.

8

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 beta-glucuronidase gene.

Vervoort R, Gitzelmann R, Lissens W, Liebaers I. Vervoort R, et al. Hum Genet. 1998 Dec;103(6):686-93. doi: 10.1007/pl00008709. Hum Genet. 1998. PMID: 9921904

9

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

Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W. Vervoort R, et al. Am J Hum Genet. 1995 Oct;57(4):798-804. Am J Hum Genet. 1995. PMID: 7573038 Free PMC article.

10

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

Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Vervoort R, et al. Am J Hum Genet. 1996 Mar;58(3):457-71. Am J Hum Genet. 1996. PMID: 8644704 Free PMC article.

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