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42 results
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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
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.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Coppieters F, et al. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625443 Free article.
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E. Van Schil K, et al. Among authors: coppieters f. Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95. Epub 2014 Aug 14. Genet Med. 2015. PMID: 25122145 Free article.
42 results