Marked Hypoplasia of the Distal Phalanges in Ellis–Van Creveld Syndrome

by Stijn Marcelis, Geert Mortier, Filip Vanhoenacker
Published 2018-04-01

Helpful Signs in the Imaging Diagnosis of Hereditary Musculoskeletal Disease

by Charlotte Vanhoenacker, Geert Mortier, Filip Vanhoenacker
Published 2017-12-01

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

by Yentl Huybrechts, Geert Mortier, Eveline Boudin, Wim Van Hul
Published 2020-04-01

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta

by Lucie Hruskova, Igor Fijalkowski, Wim Van Hul, Ivo Marik, Geert Mortier, Pavel Martasek, Ivan Mazura
Published 2016-09-01

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

by Liza Das, Vandana Dhiman, Wim Van Hul, Anil Bhansali, Yashpal Gogate, Ellen Steenackers, Geert Mortier, Sanjay Kumar Bhadada
Published 2020-06-01

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)

by Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A.N. Meester
Published 2023-03-01

Gene set enrichment analysis reveals a first somatic mutation in the catalytic domain of MAP2K1 in a melorheostosis patient

by Raphaël De Ridder, Eveline Boudin, Joe Ibrahim, M. Carola Zillikens, Bram C.J. van der Eerden, Wim Van Hul, Geert Mortier
Published 2020-10-01

Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient

by Yentl Huybrechts, Ellen Steenackers, Neveen Hamdy, Geert Mortier, Guillermo Martinez, Milagros Sierra Bracamonte, Natasha Appelman-Dijkstra, Wim Van Hul, Eveline Boudin
Published 2020-10-01

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

by Pauline De Kinderen, Laura Rabaut, Melanie H.A.M. Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A.N. Meester, Aline Verstraeten
Published 2023-06-01

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

by Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen Hamdy, Geert Mortier, Guillermo Martínez Díaz-Guerra, Milagros Sierra Bracamonte, Natasha M. Appelman-Dijkstra, Wim Van Hul
Published 2021-12-01

Activation of Interferon-Stimulated Genes following Varicella-Zoster Virus Infection in a Human iPSC-Derived Neuronal In Vitro Model Depends on Exogenous Interferon-α

by Marlies Boeren, Elise Van Breedam, Tamariche Buyle-Huybrecht, Marielle Lebrun, Pieter Meysman, Catherine Sadzot-Delvaux, Viggo F. Van Tendeloo, Geert Mortier, Kris Laukens, Benson Ogunjimi, Peter Ponsaerts, Peter Delputte
Published 2022-11-01

The first European consensus on principles of management for achondroplasia

by Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike
Published 2021-07-01

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

by Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike
Published 2022-07-01

Optimising care and follow-up of adults with achondroplasia

by Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright
Published 2022-08-01

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

by Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa
Published 2023-07-01

Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon hepatitis B vaccination

by George Elias, Pieter Meysman, Esther Bartholomeus, Nicolas De Neuter, Nina Keersmaekers, Arvid Suls, Hilde Jansens, Aisha Souquette, Hans De Reu, Marie-Paule Emonds, Evelien Smits, Eva Lion, Paul G Thomas, Geert Mortier, Pierre Van Damme, Philippe Beutels, Kris Laukens, Viggo Van Tendeloo, Benson Ogunjimi
Published 2022-01-01

Diagnosing enterovirus meningitis via blood transcriptomics: an alternative for lumbar puncture?

by Esther Bartholomeus, Nicolas De Neuter, Annelies Lemay, Luc Pattyn, David Tuerlinckx, David Weynants, Koen Van Lede, Gerlant van Berlaer, Dominique Bulckaert, Tine Boiy, Ann Vander Auwera, Marc Raes, Dimitri Van der Linden, Helene Verhelst, Susanne Van Steijn, Tijl Jonckheer, Joke Dehoorne, Rik Joos, Hilde Jansens, Arvid Suls, Pierre Van Damme, Kris Laukens, Geert Mortier, Pieter Meysman, Benson Ogunjimi
Published 2019-08-01

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.

by Gretl Hendrickx, Vere M Borra, Ellen Steenackers, Timur A Yorgan, Christophe Hermans, Eveline Boudin, Jérôme J Waterval, Ineke D C Jansen, Tolunay Beker Aydemir, Niels Kamerling, Geert J Behets, Christine Plumeyer, Patrick C D'Haese, Björn Busse, Vincent Everts, Martin Lammens, Geert Mortier, Robert J Cousins, Thorsten Schinke, Robert J Stokroos, Johannes J Manni, Wim Van Hul
Published 2018-04-01

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

by Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Published 2021-09-01