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Page 1
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C. Del Pozo-Valero M, et al. Among authors: van cauwenbergh c. Am J Ophthalmol. 2019 Nov;207:204-214. doi: 10.1016/j.ajo.2019.05.014. Epub 2019 May 24. Am J Ophthalmol. 2019. PMID: 31129250
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. Among authors: van cauwenbergh c. 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.
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. AlMoallem B, et al. Among authors: van cauwenbergh c. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. Invest Ophthalmol Vis Sci. 2015. PMID: 25678693
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Coppieters F, et al. Among authors: van cauwenbergh c. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. Epub 2015 Oct 1. Hum Mutat. 2015. PMID: 26316326 Free PMC article.
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, Steyaert W, Sante T, Menten B, Leroy BP, Coppieters F, De Baere E. Van Cauwenbergh C, et al. Among authors: van laethem t, van schil k. Genet Med. 2017 Apr;19(4):457-466. doi: 10.1038/gim.2016.119. Epub 2016 Sep 8. Genet Med. 2017. PMID: 27608171 Free PMC article.
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E. Van Cauwenbergh C, et al. Among authors: van camp g. PLoS One. 2017 Jan 11;12(1):e0170038. doi: 10.1371/journal.pone.0170038. eCollection 2017. PLoS One. 2017. PMID: 28076437 Free PMC article.
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. Invest Ophthalmol Vis Sci. 2018. PMID: 30105367
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ. Valkenburg D, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817. Invest Ophthalmol Vis Sci. 2018. PMID: 30193310
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. Bauwens M, et al. Among authors: van cauwenbergh c, van laethem t. Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670881 Free PMC article.
33 results