Ghent University Academic Bibliography

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Your filters: cql: author="Meuwissen, Marije" or (type any "bookEditor issueEditor" and editor="Meuwissen, Marije")

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Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie Naesens (UGent) , Josephine Nemegeer (UGent) , Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo (UGent) , Benson Ogunjimi, Dimitri Hemelsoet (UGent) , Levi Hoste (UGent) , et al.

(2022) JOURNAL OF CLINICAL IMMUNOLOGY. 42(5). p.962-974
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Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases : a proof of concept study

My Kieu Ha, Esther Bartholomeus, Luc Van Os, Julie Dandelooy, Julie Leysen, Olivier Aerts, Vasiliki Siozopoulou, Eline De Smet, Jan Gielen, Khadija Guerti, et al.

(2022) PEDIATRIC RHEUMATOLOGY. 20(1).
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D. Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, et al.

(2022) BRAIN. 145(9). p.2991-3009
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- Conference Paper
- C3
Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie Naesens (UGent) , Josephine Nemegeer (UGent) , Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo (UGent) , Benson Ogunjimi (UGent) , Dimitri Hemelsoet (UGent) , Program for Undiagnosed Rare Diseases (UD-PrOZA), et al.

(2021) 25th Annual Congress of the Belgian Society of Internal Medicine, Abstracts.
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, et al.

(2021) GENOME MEDICINE. 13(1).
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- Conference Paper
- C3
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah Verdin (UGent) , Toon Rosseel (UGent) , Sascha Vermeer, Irina Balikova (UGent) , Philippe Kestelyn (UGent) , Colombine Meunier, Françoise Meire (UGent) , Julie Van De Velde (UGent) , Olivier Vanakker (UGent) , Jenneke Van Den Ende, et al.

(2020) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.
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Lessons learned from 40 novel PIGA patients and a review of the literature

Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert (UGent) , Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, et al.

(2020) EPILEPSIA. 61(6). p.1142-1155
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, et al.

(2018) PRENATAL DIAGNOSIS. 38(13). p.1120-1128

Academic Bibliography

Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases : a proof of concept study

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Lessons learned from 40 novel PIGA patients and a review of the literature

The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

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