Onderzoeker
Caroline Van Cauwenbergh
- Trefwoorden:Geneeskunde
- 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 33 results
- The NU+2010terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond(2019)Tijdschrift: Human MutationISSN: 1059-7794Issue: 5Volume: 40
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 - ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)Tijdschrift: GENETICS IN MEDICINEISSN: 1098-3600Issue: 8Volume: 21
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 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)Tijdschrift: Genetics in Medicine : Official Journal of the American College of Medical GeneticsISSN: 1098-3600Issue: 2Volume: 20
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 - The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene(2018)Tijdschrift: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEISSN: 1552-5783Issue: 10Volume: 59
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 - 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(2018)Boek: European Human Genetics conference, Abstracts
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
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(2018)Boek: European Human Genetics conference, Abstracts
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
Aantal pagina's: 1 - 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)Boek: Belgian Society for Human Genetics, 18th Annual meeting, Abstracts
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 - Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus(2017)Boek: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEVolume: 58
Auteurs: Miriam Bauwens, Riccardo Sangermano, Timothy Cherry, Caroline Van Cauwenbergh, Jose Luis Gomez-Skarmeta, Nicole Weisschuh, Susanne Kohl, Bart Leroy, Frans Cremers, Elfride De Baere
Aantal pagina's: 1 - Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families(2017)Tijdschrift: PLOS ONEISSN: 1932-6203Issue: 1Volume: 12
Auteurs: Caroline Van Cauwenbergh, Frauke Coppieters, DIMITRI ROELS, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, SOPHIE WALRAEDT, Charlotte Claes, Erik Fransen, Guy Van Camp, et al.
Aantal pagina's: 1 - CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients(2017)Tijdschrift: Human MutationISSN: 1059-7794Issue: 11Volume: 38
Auteurs: Anja K Mayer, Caroline Van Cauwenbergh, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere, Bernd Wissinger, Susanne Kohl
Pagina's: 1579 - 1591