Hoyng CB - Search Results

1

Long-read technologies identify a hidden inverted duplication in a family with choroideremia.

Fadaie Z, Neveling K, Mantere T, Derks R, Haer-Wigman L, den Ouden A, Kwint M, O'Gorman L, Valkenburg D, Hoyng CB, Gilissen C, Vissers LELM, Nelen M, Cremers FPM, Hoischen A, Roosing S. Fadaie Z, et al. Among authors: hoyng cb. HGG Adv. 2021 Jul 20;2(4):100046. doi: 10.1016/j.xhgg.2021.100046. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047838 Free PMC article.

2

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.

3

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

4

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.

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. Among authors: hoyng cb. 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

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).

van Lith-Verhoeven JJ, van der Velde-Visser SD, Sohocki MM, Deutman AF, Brink HM, Cremers FP, Hoyng CB. van Lith-Verhoeven JJ, et al. Among authors: hoyng cb. Ophthalmic Genet. 2002 Mar;23(1):1-12. doi: 10.1076/opge.23.1.1.2206. Ophthalmic Genet. 2002. PMID: 11910553

7

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. Among authors: hoyng cb. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5. Invest Ophthalmol Vis Sci. 2002. PMID: 12037008

8

[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: hoyng cb. Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Ned Tijdschr Geneeskd. 2002. PMID: 12224481 Review. Dutch.

9

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

van Lith-Verhoeven JJ, Cremers FP, van den Helm B, Hoyng CB, Deutman AF. van Lith-Verhoeven JJ, et al. Among authors: hoyng cb. Mol Vis. 2003 Apr 24;9:138-43. Mol Vis. 2003. PMID: 12724643 Free article.

10

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Go SL, et al. Among authors: hoyng cb. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43. doi: 10.1167/iovs.02-0736. Invest Ophthalmol Vis Sci. 2003. PMID: 12939326 Free article.

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