Hoyng CB - Search Results

1

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB. den Hollander AI, et al. Among authors: hoyng cb. Arch Ophthalmol. 2007 Jul;125(7):932-5. doi: 10.1001/archopht.125.7.932. Arch Ophthalmol. 2007. PMID: 17620573

2

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.

Hoyng CB, Heutink P, Testers L, Pinckers A, Deutman AF, Oostra BA. Hoyng CB, et al. Am J Ophthalmol. 1996 Jun;121(6):623-9. doi: 10.1016/s0002-9394(14)70627-0. Am J Ophthalmol. 1996. PMID: 8644804 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

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP. Gerber S, et al. Among authors: hoyng cb. Genomics. 1998 Feb 15;48(1):139-42. doi: 10.1006/geno.1997.5164. Genomics. 1998. PMID: 9503029

6

ABCR unites what ophthalmologists divide(s).

van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FP. van Driel MA, et al. Among authors: hoyng cb. Ophthalmic Genet. 1998 Sep;19(3):117-22. doi: 10.1076/opge.19.3.117.2187. Ophthalmic Genet. 1998. PMID: 9810566 Review.

7

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

8

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.

9

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

10

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.

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