Onderzoeker
Julie De Zaeytijd
- Trefwoorden:Geneeskunde
- Disciplines:Oftalmologie en optometrie, Palliatieve zorg en zorg rond het levenseinde, Laboratoriumgeneeskunde, Andere translationele wetenschappen, Regeneratieve geneeskunde, Verpleegkunde, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen
Affiliaties
- Vakgroep Oogheelkunde (Departement)
Lid
Vanaf18 feb 2016 → 25 sep 2016
Publicaties
1 - 10 of 35 results
- VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum(2020)
Auteurs: Eva De Vilder, Mohammad Jakir Hosen, Ludovic Martin, Julie De Zaeytijd, Bart Leroy, Jean-Marc Ebran, Paul Coucke, Anne De Paepe, Olivier Vanakker
Pagina's: 74 - 79 - The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56(2020)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.
Aantal pagina's: 1 - Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing(2020)
Auteurs: Giulia Ascari, Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd, Valerie Baumont, Marieke De Bruyne, Toon Rosseel, Mattias Van Heetvelde, Tim De Pooter, Wouter De Coster, 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 - 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 - Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease(2019)
Auteurs: Stijn Van De Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, et al.
Pagina's: 1319 - 1329 - 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 - Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease(2018)
Auteurs: Stijn Van De Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, et al.
Aantal pagina's: 1 - Thrombomodulin and endothelial dysfunction : a disease-modifier shared between malignant hypertension and atypical hemolytic uremic syndrome(2018)
Auteurs: Marieke Demeulenaere, Katrien Devreese, Hilde Vanbelleghem, Julie De Zaeytijd, Johan Vande Walle, Wim Van Biesen, Steven Van Laecke
Pagina's: 63 - 73 - Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees(2018)Volume: 59
Auteurs: Sarah Naessens, Delfien Syx, Frank Peelman, Roosmarijn Vandenbroucke, Sarah De Jaegere, Frédéric Smeets, Julie De Zaeytijd, Bart Leroy, Elfride De Baere, Frauke Coppieters
Aantal pagina's: 1