Klevering BJ - Search Results

1

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

van Huet RA, Oomen CJ, Plomp AS, van Genderen MM, Klevering BJ, Schlingemann RO, Klaver CC, van den Born LI, Cremers FP; RD5000 Study Group. van Huet RA, et al. Among authors: klevering bj. Invest Ophthalmol Vis Sci. 2014 Nov 17;55(11):7355-60. doi: 10.1167/iovs.14-15317. Invest Ophthalmol Vis Sci. 2014. PMID: 25404643 Review.

2

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Maugeri A, et al. Among authors: klevering bj. Am J Hum Genet. 1999 Apr;64(4):1024-35. doi: 10.1086/302323. Am J Hum Genet. 1999. PMID: 10090887 Free PMC article.

3

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

Klevering BJ, van Driel M, van de Pol DJ, Pinckers AJ, Cremers FP, Hoyng CB. Klevering BJ, et al. Br J Ophthalmol. 1999 Aug;83(8):914-8. doi: 10.1136/bjo.83.8.914. Br J Ophthalmol. 1999. PMID: 10413692 Free PMC article.

4

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Maugeri A, et al. Among authors: klevering bj. Am J Hum Genet. 2000 Oct;67(4):960-6. doi: 10.1086/303079. Epub 2000 Aug 24. Am J Hum Genet. 2000. PMID: 10958761 Free PMC article.

5

Central areolar choroidal dystrophy associated with dominantly inherited drusen.

Klevering BJ, van Driel M, van Hogerwou AJ, van De Pol DJ, Deutman AF, Pinckers AJ, Cremers FP, Hoyng CB. Klevering BJ, et al. Br J Ophthalmol. 2002 Jan;86(1):91-6. doi: 10.1136/bjo.86.1.91. Br J Ophthalmol. 2002. PMID: 11801511 Free PMC article.

6

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K. Klevering BJ, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5. Invest Ophthalmol Vis Sci. 2002. PMID: 12037008

7

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP, Maugeri A, Klevering BJ, Hoefsloot LH, Hoyng CB. Cremers FP, et al. Among authors: klevering bj. Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Ned Tijdschr Geneeskd. 2002. PMID: 12224481 Review. Dutch.

8

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.

Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB. Klevering BJ, et al. Ophthalmology. 2004 Mar;111(3):546-53. doi: 10.1016/j.ophtha.2003.06.010. Ophthalmology. 2004. PMID: 15019334

9

Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome.

Theelen T, Go SL, Tilanus MA, Klevering BJ, Deutman AF, Cremers FP, Hoyng CB. Theelen T, et al. Among authors: klevering bj. Graefes Arch Clin Exp Ophthalmol. 2004 Oct;242(10):892-7. doi: 10.1007/s00417-004-0903-1. Epub 2004 Apr 2. Graefes Arch Clin Exp Ophthalmol. 2004. PMID: 15064954

10

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP. Klevering BJ, et al. Eur J Hum Genet. 2004 Dec;12(12):1024-32. doi: 10.1038/sj.ejhg.5201258. Eur J Hum Genet. 2004. PMID: 15494742

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