Hoyng CB - Search Results

1

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. Littink KW, et al. Among authors: hoyng cb. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3. Invest Ophthalmol Vis Sci. 2010. PMID: 20130272

2

Pigmentary irregularities and optic disc edema after heart transplantation.

Klaver CC, Hoyng CB, de Jong PT. Klaver CC, et al. Among authors: hoyng cb. Arch Ophthalmol. 1995 Oct;113(10):1281-5. doi: 10.1001/archopht.1995.01100100069031. Arch Ophthalmol. 1995. PMID: 7575260 Free article.

3

Genetic fine mapping of the gene for recessive Stargardt disease.

Hoyng CB, Poppelaars F, van de Pol TJ, Kremer H, Pinckers AJ, Deutman AF, Cremers FP. Hoyng CB, et al. Hum Genet. 1996 Oct;98(4):500-4. doi: 10.1007/s004390050247. Hum Genet. 1996. PMID: 8792830 Free article.

4

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Cremers FP, et al. Among authors: hoyng cb. Hum Mol Genet. 1998 Mar;7(3):355-62. doi: 10.1093/hmg/7.3.355. Hum Mol Genet. 1998. PMID: 9466990

5

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.

den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP. den Hollander AI, et al. Among authors: hoyng cb. Hum Genet. 1999 Jan;104(1):73-6. doi: 10.1007/s004390050912. Hum Genet. 1999. PMID: 10071195

6

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: hoyng cb. Am J Hum Genet. 1999 Apr;64(4):1024-35. doi: 10.1086/302323. Am J Hum Genet. 1999. PMID: 10090887 Free PMC article.

7

Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.

den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP. den Hollander AI, et al. Among authors: hoyng cb. Genomics. 1999 Jun 15;58(3):240-9. doi: 10.1006/geno.1999.5823. Genomics. 1999. PMID: 10373321

8

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. Among authors: hoyng cb. 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.

9

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Among authors: hoyng cb. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521

10

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: hoyng cb. 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.

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