Search Results - "Van Laethem, Thalia"

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants by Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., De Baere, Elfride

“…Purpose ABCA4 -associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant,…”
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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination by Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride

“…Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here,…”
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility by Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke

“…Inactivating variants in the centrosomal CEP78 gene have been found in cone‐rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher…”
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease by Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, De Baere, Elfride

“…Purpose RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant…”
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Focus on 16p13.3 Locus in Colon Cancer by Mampaey, Evi, Fieuw, Annelies, Van Laethem, Thalia, Ferdinande, Liesbeth, Claes, Kathleen, Ceelen, Wim, Van Nieuwenhove, Yves, Pattyn, Piet, De Man, Marc, De Ruyck, Kim, Van Roy, Nadine, Geboes, Karen, Laurent, Stéphanie

“…With one million new cases of colorectal cancer (CRC) diagnosed annually in the world, CRC is the third most commonly diagnosed cancer in the Western world…”
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Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease by Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, De Baere, Elfride

“…The original version of this Article contained an incorrect version of Fig. 3, which included two variants initially shown in black text in Fig. 3a that the…”
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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss by Ascari, Giulia, Rendtorff, Nanna D, De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride

“…Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss…”
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arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs by Van Cauwenbergh, Caroline, Van Schil, Kristof, Cannoodt, Robrecht, Bauwens, Miriam, Van Laethem, Thalia, De Jaegere, Sarah, Steyaert, Wouter, Sante, Tom, Menten, Björn, Leroy, Bart P., Coppieters, Frauke, De Baere, Elfride

“…Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited…”
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Focus on 16p13.3 Locus in Colon Cancer: e0131421 by Mampaey, Evi, Fieuw, Annelies, Laethem, Thalia Van, Ferdinande, Liesbeth, Claes, Kathleen, Ceelen, Wim, Nieuwenhove, Yves Van, Pattyn, Piet, Man, Marc De, Ruyck, Kim De

“…Background With one million new cases of colorectal cancer (CRC) diagnosed annually in the world, CRC is the third most commonly diagnosed cancer in the…”
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