Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Julie, De Zaeytijd"'
Autor:
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. W
Externí odkaz:
https://doaj.org/article/0c0b6eba7aa84c6fa61212f9ff5202a8
Autor:
Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In this report, we present two families with PXE in which paternal germline mosaicism for an
Externí odkaz:
https://doaj.org/article/479cde1bfdb14a16b0132e744b3865e7
Autor:
Cédric De Landsheer, Valentien Merlevede, Celine Jacobs, Jo Van Dorpe, Julie De Zaeytijd, Virginie G.S. Ninclaus, Dimitri Roels
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 212-219 (2024)
Introduction: This case report demonstrates the possibility of successful eye and vision-sparing therapy for caruncular melanoma. Case Presentation: We present an atypical presentation of a caruncular melanoma. After excisional biopsy, residual flat
Externí odkaz:
https://doaj.org/article/28ad9b59d1fc4a5a8b1b8bcb60802d16
Autor:
Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Abstract Background 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a
Externí odkaz:
https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff
Publikováno v:
Case Reports in Ophthalmology, Vol 13, Iss 2, Pp 657-662 (2022)
Ocular alkali burns are known to cause profound damage to the anterior segment, especially the cornea and conjunctiva. However, rarely, additional adjacent chorioretinal complications may ensue. These chorioretinal complications appear primary by dir
Externí odkaz:
https://doaj.org/article/f2d180115898416cbb2e8a7987fc815c
Autor:
Ine Strubbe, Caroline Van Cauwenbergh, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele, Elfride De Baere, Bart P. Leroy
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother u
Externí odkaz:
https://doaj.org/article/f141d5c768e34c78b6bb44fe43ab7ec2
Autor:
Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart
Externí odkaz:
https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3
Autor:
Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, Giacomo M. Bacci
Publikováno v:
Ophthalmic Genetics. 44:152-162
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73b7bf9e7ec14baed3b5164d28514b1f
https://doi.org/10.1080/13816810.2022.2132514
https://doi.org/10.1080/13816810.2022.2132514
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2020 (2020)
Objective. To describe a patient with vitreous hemorrhage and peripheral retinal ischemia, eventually diagnosed with an underlying retinal arteriovenous malformation. Methods. A 15-year-old girl presented with sudden-onset, painless visual loss in th
Externí odkaz:
https://doaj.org/article/b4d333ed684e49aba77ee1ba47984121
Autor:
Melissa Vereecken, Karolien Hollanders, Deborah De Bruyn, Virginie Ninclaus, Julie De Zaeytijd, Ilse De Schryver
Publikováno v:
Journal of Ophthalmic Inflammation and Infection, Vol 8, Iss 1, Pp 1-6 (2018)
Abstract Background Sarcoidosis, a multisystem, granulomatous disorder, sometimes manifests with a neuro-ophthalmic subtype. The latter can pose a diagnostic challenge, especially when ocular symptoms appear before systemic involvement, as the clinic
Externí odkaz:
https://doaj.org/article/9c814b20e65945beae68356250b8e861