Ghent University Academic Bibliography

Mark

journalArticle
A1
open access

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213

Mark

journalArticle
A1
open access

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

Caroline Van Cauwenbergh (UGent) , Kristof Van Schil (UGent) , Robrecht Cannoodt (UGent) , Miriam Bauwens (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Wouter Steyaert (UGent) , Tom Sante (UGent) , Björn Menten (UGent) , Bart Leroy (UGent) , et al.

(2017) GENETICS IN MEDICINE. 19(4). p.457-466

Mark

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Marni J Falk, Mark Consugar, Marie-Elise Lancelot, Aline Antonio, Christine Lonjou, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(1). p.230-242

Mark

Colour vision in Stargardt disease

Tine Vandenbroucke (UGent) , Ronald Buyl, Julie De Zaeytijd (UGent) , Miriam Bauwens (UGent) , André Uvijls, Elfride De Baere (UGent) and Bart Leroy (UGent)

(2015) OPHTHALMIC RESEARCH. 54(4). p.181-194

Mark

Chaperone nanobodies protect gelsolin against MT1-MMP degradation and alleviate amyloid burden in the gelsolin amyloidosis mouse model

Wouter Van Overbeke (UGent) , Adriaan Verhelle (UGent) , Inge Everaert (UGent) , Olivier Zwaenepoel (UGent) , Joël Vandekerckhove (UGent) , Claude Cuvelier (UGent) , Wim Derave (UGent) and Jan Gettemans (UGent)

(2014) MOLECULAR THERAPY. 22(10). p.1768-1778

Mark

Genotyping microarray for CSNB-associated genes

Christina Zeitz, Stephan Labs, Birgit Lorenz, Ursula Forster, Janne Uksti, Hester Y Kroes, Elfride De Baere (UGent) , Bart Leroy (UGent) , Frans PM Cremers, Mariana Wittmer, et al.

(2009) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 50(12). p.5919-5926

Mark

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

Camiel JF Boon, B Jeroen Klevering, Bart Leroy (UGent) , Carel B Hoyng, Jan EE Keunen and Anneke I den Hollander

(2009) PROGRESS IN RETINAL AND EYE RESEARCH. 28(3). p.187-205

Mark

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

Sharola Dhamaraj, Bart Leroy (UGent) , Melanie M Sohocki, Robert K Koenekoop, Isabelle Perrault, Khalid Anwar, Shagufta Khaliq, R Summathie Devi, David G Birch, Elaine De Pool, et al.

(2004) ARCHIVES OF OPHTHALMOLOGY. 122(7). p.1029-1037

Academic Bibliography

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

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

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Colour vision in Stargardt disease

Chaperone nanobodies protect gelsolin against MT1-MMP degradation and alleviate amyloid burden in the gelsolin amyloidosis mouse model

Genotyping microarray for CSNB-associated genes

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

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