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Local complement activation in nasal polyposis.
Published in:
Laryngoscope, 2009, v. 119, n. 9, p. 1753, doi. 10.1002/lary.20484
By:
- Van Zele, Thibaut;
- Coppieters, Frauke;
- Gevaert, Philippe;
- Holtappels, Gabriele;
- Van Cauwenberge, Paul;
- Bachert, Claus
Publication type:
Article
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
Published in:
Documenta Ophthalmologica, 2012, v. 125, n. 2, p. 161, doi. 10.1007/s10633-012-9337-y
By:
- Cima, Ivan;
- Brecelj, Jelka;
- Sustar, Maja;
- Coppieters, Frauke;
- Leroy, Bart;
- Baere, Elfride;
- Hawlina, Marko
Publication type:
Article
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.
Published in:
Clinical Pediatrics, 2018, v. 57, n. 8, p. 981, doi. 10.1177/0009922817733705
By:
- Hoste, Levi;
- De Baets, Frans;
- Van Daele, Sabine;
- Schelstraete, Petra;
- Boon, Mieke;
- De Bruyne, Marieke;
- Dullaers, Melissa;
- Coppieters, Frauke;
- Haerynck, Filomeen
Publication type:
Article
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45381-1
By:
- Lopez Soriano, Victor;
- Dueñas Rey, Alfredo;
- Mukherjee, Rajarshi;
- Genomics England Research Consortium;
- Inglehearn, Chris F.;
- Coppieters, Frauke;
- Bauwens, Miriam;
- Willaert, Andy;
- De Baere, Elfride
Publication type:
Article
Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice.
Published in:
Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1040493
By:
- Krysko, Olga;
- Korsakova, Darya;
- Teufelberger, Andrea;
- De Meyer, Amse;
- Steels, Jill;
- De Ruyck, Natalie;
- van Ovost, Judith;
- Van Nevel, Sharon;
- Holtappels, Gabriele;
- Coppieters, Frauke;
- Ivanchenko, Mikhail;
- Braun, Harald;
- Vedunova, Maria;
- Krysko, Dmitri V.;
- Bachert, Claus
Publication type:
Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 426, doi. 10.1111/cge.13673
By:
- Bauwens, Miriam;
- Storch, Stephan;
- Weisschuh, Nicole;
- Ceuterick‐de Groote, Chantal;
- De Rycke, Riet;
- Guillemyn, Brecht;
- De Jaegere, Sarah;
- Coppieters, Frauke;
- Van Coster, Rudy;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article
Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow.
Published in:
Molecular Diagnosis & Therapy, 2022, v. 26, n. 4, p. 411, doi. 10.1007/s40291-022-00585-3
By:
- Wils, Gertjan;
- Helsmoortel, Céline;
- Volders, Pieter-Jan;
- Vereecke, Inge;
- Milazzo, Mauro;
- Vandesompele, Jo;
- Coppieters, Frauke;
- De Leeneer, Kim;
- Lefever, Steve
Publication type:
Article
DC vaccines loaded with glioma cells killed by photodynamic therapy induce Th17 anti-tumor immunity and provide a four-gene signature for glioma prognosis.
Published in:
Cell Death & Disease, 2022, v. 13, n. 12, p. 1, doi. 10.1038/s41419-022-05514-0
By:
- Vedunova, Maria;
- Turubanova, Victoria;
- Vershinina, Olga;
- Savyuk, Maria;
- Efimova, Iuliia;
- Mishchenko, Tatiana;
- Raedt, Robrecht;
- Vral, Anne;
- Vanhove, Christian;
- Korsakova, Daria;
- Bachert, Claus;
- Coppieters, Frauke;
- Agostinis, Patrizia;
- Garg, Abhishek D.;
- Ivanchenko, Mikhail;
- Krysko, Olga;
- Krysko, Dmitri V.
Publication type:
Article
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170038
By:
- Van Cauwenbergh, Caroline;
- Coppieters, Frauke;
- Roels, Dimitri;
- De Jaegere, Sarah;
- Flipts, Helena;
- De Zaeytijd, Julie;
- Walraedt, Sophie;
- Claes, Charlotte;
- Fransen, Erik;
- Van Camp, Guy;
- Depasse, Fanny;
- Casteels, Ingele;
- de Ravel, Thomy;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article
Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation.
Published in:
Tree Genetics & Genomes, 2021, v. 17, n. 1, p. 1, doi. 10.1007/s11295-021-01490-2
By:
- De Wever, Jocelyn;
- De Coninck, Tibo;
- Everaert, Helena;
- Afoakwa, Emmanuel Ohene;
- Coppieters, Frauke;
- Rottiers, Hayley;
- Opoku, Stephen Yaw;
- Lowor, Samuel;
- Dewettinck, Koen;
- Vandesompele, Jo;
- Lefever, Steve;
- Messens, Kathy
Publication type:
Article
High-throughput PCR assay design for targeted resequencing using primerXL.
Published in:
BMC Bioinformatics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12859-017-1809-3
By:
- Lefever, Steve;
- Pattyn, Filip;
- De Wilde, Bram;
- Coppieters, Frauke;
- De Keulenaer, Sarah;
- Hellemans, Jan;
- Vandesompele, Jo
Publication type:
Article
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 539, doi. 10.1002/humu.23713
By:
- Naessens, Sarah;
- Zaeytijd, Julie;
- Syx, Delfien;
- Vandenbroucke, Roosmarijn E.;
- Smeets, Frédéric;
- Cauwenbergh, Caroline;
- Leroy, Bart P.;
- Peelman, Frank;
- Coppieters, Frauke
Publication type:
Article
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations of NMNAT1.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1188, doi. 10.1002/humu.22899
By:
- Coppieters, Frauke;
- Todeschini, Anne Laure;
- Fujimaki, Takuro;
- Baert, Annelot;
- Bruyne, Marieke;
- Cauwenbergh, Caroline;
- Verdin, Hannah;
- Bauwens, Miriam;
- Ongenaert, Maté;
- Kondo, Mineo;
- Meire, Françoise;
- Murakami, Akira;
- Veitia, Reiner A.;
- Leroy, Bart P.;
- Baere, Elfride
Publication type:
Article
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 379, doi. 10.1002/humu.22739
By:
- Leeneer, Kim;
- Hellemans, Jan;
- Steyaert, Wouter;
- Lefever, Steve;
- Vereecke, Inge;
- Debals, Eveline;
- Crombez, Brecht;
- Baetens, Machteld;
- Heetvelde, Mattias;
- Coppieters, Frauke;
- Vandesompele, Jo;
- Jaegher, Annelies;
- Baere, Elfride;
- Coucke, Paul;
- Claes, Kathleen
Publication type:
Article
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 39, doi. 10.1002/humu.22716
By:
- Bauwens, Miriam;
- De Zaeytijd, Julie;
- Weisschuh, Nicole;
- Kohl, Susanne;
- Meire, Françoise;
- Dahan, Karin;
- Depasse, Fanny;
- De Jaegere, Sarah;
- De Ravel, Thomy;
- De Rademaeker, Marjan;
- Loeys, Bart;
- Coppieters, Frauke;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. E1709, doi. 10.1002/humu.21336
By:
- Coppieters, Frauke;
- Casteels, Ingele;
- Meire, Françoise;
- De Jaegere, Sarah;
- Hooghe, Sally;
- van Regemorter, Nicole;
- Van Esch, Hilde;
- Matulevičienė, Aušra;
- Nunes, Luis;
- Meersschaut, Valérie;
- Walraedt, Sophie;
- Standaert, Lieve;
- Coucke, Paul;
- Hoeben, Heidi;
- Kroes, Hester Y.;
- Vande Walle, Johan;
- de Ravel, Thomy;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article
CEP290, a gene with many faces: mutation overview and presentation of CEP290 base.
Published in:
2010
By:
- Coppieters, Frauke;
- Lefever, Steve;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Other
Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Published in:
2024
By:
- Lopez Soriano, Victor;
- Dueñas Rey, Alfredo;
- Mukherjee, Rajarshi;
- Inglehearn, Chris F.;
- Coppieters, Frauke;
- Bauwens, Miriam;
- Willaert, Andy;
- De Baere, Elfride
Publication type:
Correction Notice
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45381-1
By:
- Lopez Soriano, Victor;
- Dueñas Rey, Alfredo;
- Mukherjee, Rajarshi;
- Inglehearn, Chris F.;
- Coppieters, Frauke;
- Bauwens, Miriam;
- Willaert, Andy;
- De Baere, Elfride
Publication type:
Article
Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.
Published in:
Genes, 2019, v. 10, n. 5, p. 363, doi. 10.3390/genes10050363
By:
- Naessens, Sarah;
- Ruysschaert, Laurien;
- Lefever, Steve;
- Coppieters, Frauke;
- De Baere, Elfride
Publication type:
Article
A proteogenomic atlas of the human neural retina.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1451024
By:
- Riepe, Tabea V.;
- Stemerdink, Merel;
- Salz, Renee;
- Dueñas Rey, Alfredo;
- de Bruijn, Suzanne E.;
- Boonen, Erica;
- Tomkiewicz, Tomasz Z.;
- Kwint, Michael;
- Gloerich, Jolein;
- Wessels, Hans J. C. T.;
- Delanote, Emma;
- De Baere, Elfride;
- van Nieuwerburgh, Filip;
- De Keulenaer, Sarah;
- Ferrari, Barbara;
- Ferrari, Stefano;
- Coppieters, Frauke;
- Cremers, Frans P. M.;
- van Wyk, Erwin;
- Roosing, Susanne
Publication type:
Article

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