Hoyng CB - Search Results

1

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stöhr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM. Corradi Z, et al. Among authors: hoyng cb. HGG Adv. 2023 Oct 12;4(4):100237. doi: 10.1016/j.xhgg.2023.100237. Epub 2023 Sep 12. HGG Adv. 2023. PMID: 37705246 Free PMC article.

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

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

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.

6

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.

7

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

8

Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.

Schulz HL, Stoehr H, White K, van Driel MA, Hoyng CB, Cremers F, Weber BH. Schulz HL, et al. Among authors: hoyng cb. Mol Vis. 2002 Mar 19;8:67-71. Mol Vis. 2002. PMID: 11951088 Free article.

9

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Among authors: hoyng cb. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624

10

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

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