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

Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition

by Sara Diels, Sander Huybreghts, Kim Van Hoorenbeeck, Guy Massa, An Verrijken, Stijn L. Verhulst, Luc F. Van Gaal, Wim Van Hul
Published 2020-12-01

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

Functional assessment of coding and regulatory variants from the DKK1 locus

by Núria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, Marta Pineda-Moncusí, Natàlia Garcia-Giralt, Wim Van Hul, Eveline Boudin, Sergi Vives, Mireia Vinardell, Leonardo Mellibovsky, Xavier Nogués, Diana Ovejero, Adolfo Díez-Pérez, Daniel Grinberg, Susanna Balcells
Published 2020-10-01

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

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

by Melissa M. Formosa, Melissa M. Formosa, Dylan J. M. Bergen, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wolfgang Högler, Wim Van Hul, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Published 2021-08-01