Cremers FPM - Search Results

1

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

Cremers FPM, Boon CJF, Bujakowska K, Zeitz C. Cremers FPM, et al. Genes (Basel). 2018 Apr 16;9(4):215. doi: 10.3390/genes9040215. Genes (Basel). 2018. PMID: 29659558 Free PMC article.

2

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.

Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. Zeitz C, et al. Mol Vis. 2005 Mar 2;11:179-83. Mol Vis. 2005. PMID: 15761389 Free article.

3

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. Zeitz C, et al. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35. doi: 10.1167/iovs.05-0526. Invest Ophthalmol Vis Sci. 2005. PMID: 16249515

4

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Mukhopadhyay A, et al. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. doi: 10.1167/iovs.06-0141. Invest Ophthalmol Vis Sci. 2006. PMID: 16877430

5

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ. Boon CJ, et al. Br J Ophthalmol. 2007 Nov;91(11):1504-11. doi: 10.1136/bjo.2007.115659. Epub 2007 May 15. Br J Ophthalmol. 2007. PMID: 17504850 Free PMC article.

6

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB. Boon CJ, et al. Arch Ophthalmol. 2007 Aug;125(8):1100-6. doi: 10.1001/archopht.125.8.1100. Arch Ophthalmol. 2007. PMID: 17698758

7

Basal laminar drusen caused by compound heterozygous variants in the CFH gene.

Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Boon CJ, et al. Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007. Am J Hum Genet. 2008. PMID: 18252232 Free PMC article.

8

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.

Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. Boon CJ, et al. Prog Retin Eye Res. 2008 Mar;27(2):213-35. doi: 10.1016/j.preteyeres.2008.01.002. Epub 2008 Jan 26. Prog Retin Eye Res. 2008. PMID: 18328765 Review.

9

Central areolar choroidal dystrophy.

Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB. Boon CJ, et al. Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. doi: 10.1016/j.ophtha.2008.12.019. Epub 2009 Feb 25. Ophthalmology. 2009. PMID: 19243827

10

The spectrum of phenotypes caused by variants in the CFH gene.

Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. Boon CJ, et al. Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17. Mol Immunol. 2009. PMID: 19297022 Review.

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