Ghent University Academic Bibliography

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Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10

Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, V Drack, Arlene, Matteo Di Scipio, Ine Strubbe (UGent) , Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, et al.

(2021) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 62(15).
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- Conference Paper
- C3
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah Naessens, Rob W Collin, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Lonneke Duijkers, Irina Balikova (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Alex Garanto

(2019) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(9).
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- Conference Paper
- C3
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Frank Peelman (UGent) , Nina Lambrechts, Thalia Van Laethem (UGent) , Toon Rosseel (UGent) , Pietro Farinelli, David Creytens (UGent) , Irina Balikova (UGent) , Jan Gerris, Claus Bachert (UGent) , et al.

(2019) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(9).
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- Conference Paper
- C3
CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

Giulia Ascari (UGent) , Thomas Naert, Tom Van Nieuwenhuysen (UGent) , Suzan Demuynck (UGent) , Chris Guerin (UGent) , Frauke Coppieters (UGent) , Kris Vleminckx (UGent) and Elfride De Baere (UGent)

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(9).
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Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Dyon Valkenburg, Caroline Van Cauwenbergh (UGent) , Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters (UGent) , Julie De Zaeytijd (UGent) , Alberta AHJ Thiadens, Caroline CW Klaver, et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(11). p.4384-4391
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The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh (UGent) , Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(10). p.4123-4133
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- Conference Paper
- C3
Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

Sarah Naessens, Delfien Syx (UGent) , Frank Peelman (UGent) , Roosmarijn Vandenbroucke (UGent) , Sarah De Jaegere (UGent) , Frédéric Smeets, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(9).
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- Conference Paper
- C3
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In-vitro estimation of O-2 concentrations during corneal cross-linking (CXL) for porcine corneas and collagen type-I gels

Rebecca M. McQuaid, Michael Mrochen, Ruslan Dmitriev (UGent) , Dmitri Papkovski and Brian Vohnsen

(2017) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 58(8).
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The retinal relaxing factor : update on an enigmatic regulator of the retinal circulation

Laura Vanden Daele, Charlotte Boydens (UGent) , Bart Pauwels (UGent) and Johan Van de Voorde (UGent)

(2017) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 58(3). p.1702-1708
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The ability of nitric oxide to lower intraocular pressure is dependent on guanylyl cyclase

Stefan Muenster, Wolfgang S Lieb, Gregor Fabry, Kaitlin N Allen, Shivani S Kamat, Ann H Guy, Ana C Dordea, Leandro Teixeira, Robert E Tainsh, Binglan Yu, et al.

(2017) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 58(11). p.4826-4835

Academic Bibliography

Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

In-vitro estimation of O-2 concentrations during corneal cross-linking (CXL) for porcine corneas and collagen type-I gels

The retinal relaxing factor : update on an enigmatic regulator of the retinal circulation

The ability of nitric oxide to lower intraocular pressure is dependent on guanylyl cyclase

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