Onderzoeker
Caroline Van Cauwenbergh
- Disciplines:Dermatologie
Affiliaties
- Vakgroep Hoofd en Huid (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Oogheelkunde (Departement)
Lid
Vanaf1 mei 2017 → 30 sep 2018 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 jan 2010 → 24 sep 2017
Publicaties
1 - 10 of 35 results
- Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1(2019)
Auteurs: Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, Ana Arteche, Almudena Avila-Fernandez, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Caroline Van Cauwenbergh, Elfride De Baere, Carlo Rivolta, et al.
Pagina's: 204 - 214 - Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations(2019)
Auteurs: Mays Talib, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh, Jacoline B. ten Brink, Elfride De Baere, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy, Arthur A. Bergen, et al.
Aantal pagina's: 1 - Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease(2019)Volume: 27
Auteurs: Miriam Bauwens, Sarah Naessens, Caroline Van Cauwenbergh, Thalia Van Laethem, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd, Bart Leroy, Elfride De Baere
Pagina's: 42 - 43 - Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes(2019)Volume: 27
Auteurs: Stijn Van De Sompele, Kristof Van Schil, Caroline Van Cauwenbergh, Toon Rosseel, Sarah De Jaegere, Thalia Van Laethem, Irina Balikova, Bart Leroy, Frauke Coppieters, Elfride De Baere
Pagina's: 54 - 54 - ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Auteurs: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, et al.
Pagina's: 1761 - 1771 - The NU+2010terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond(2019)
Auteurs: Sarah Naessens, Julie De Zaeytijd, Delfien Syx, Roosmarijn Vandenbroucke, Frédéric Smeets, Caroline Van Cauwenbergh, Bart Leroy, Frank Peelman, Frauke Coppieters
Pagina's: 539 - 551 - Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes(2018)
Auteurs: Stijn Van De Sompele, Kristof Van Schil, Caroline Van Cauwenbergh, Toon Rosseel, Sarah De Jaegere, Thalia Van Laethem, Irina Balikova, Bart Leroy, Elfride De Baere, Frauke Coppieters
Aantal pagina's: 1 - The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene(2018)
Auteurs: Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere, et al.
Pagina's: 4123 - 4133 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Auteurs: Kristof Van Schil, Sarah Naessens, Stijn Van De Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, et al.
Pagina's: 202 - 213 - Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290(2018)
Auteurs: Dyon Valkenburg, Caroline Van Cauwenbergh, Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters, Julie De Zaeytijd, Alberta AHJ Thiadens, Caroline CW Klaver, et al.
Pagina's: 4384 - 4391