Coppieters F - Search Results

1

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F. Bogaert DJ, et al. Among authors: coppieters f. Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4. Sci Rep. 2017. PMID: 28623346 Free PMC article.

2

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Coppieters F, et al. Am J Hum Genet. 2007 Jul;81(1):147-57. doi: 10.1086/518426. Epub 2007 May 24. Am J Hum Genet. 2007. PMID: 17564971 Free PMC article.

3

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. Hum Mutat. 2010. PMID: 20683928 Free PMC article.

4

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Coppieters F, Lefever S, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Hum Mutat. 2010. PMID: 20690115 Review.

5

Discordance for retinitis pigmentosa in two monozygotic twin pairs.

Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia O Jr, Takahashi WY, Lissens W, de Baere E, Leroy BP. Berghmans LV, et al. Among authors: coppieters f. Retina. 2011 Jun;31(6):1164-9. doi: 10.1097/IAE.0b013e3181fbcf2b. Retina. 2011. PMID: 21283054

6

Development of a next-generation sequencing platform for retinal dystrophies, with LCA and RP as proof of concept.

Coppieters F, De Baere E, Leroy B. Coppieters F, et al. Bull Soc Belge Ophtalmol. 2011;(317):59-60. Bull Soc Belge Ophtalmol. 2011. PMID: 21560862 No abstract available.

7

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Coppieters F, et al. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261762 Free article.

8

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

Cima I, Brecelj J, Sustar M, Coppieters F, Leroy BP, De Baere E, Hawlina M. Cima I, et al. Among authors: coppieters f. Doc Ophthalmol. 2012 Oct;125(2):161-8. doi: 10.1007/s10633-012-9337-y. Epub 2012 Jun 19. Doc Ophthalmol. 2012. PMID: 22711506

9

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Désir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M. Désir J, et al. Among authors: coppieters f. Mol Vis. 2012;18:1849-57. Epub 2012 Jul 5. Mol Vis. 2012. PMID: 22815638 Free PMC article.

10

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy.

Schauwvlieghe PP, Torre KD, Coppieters F, Van Hoey A, De Baere E, De Zaeytijd J, Leroy BP, Brodie SE. Schauwvlieghe PP, et al. Among authors: coppieters f. Retina. 2013 Nov-Dec;33(10):2118-25. doi: 10.1097/IAE.0b013e3182899274. Retina. 2013. PMID: 23619632

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