WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

por Huybrechts, Yentl, Mortier, Geert, Boudin, Eveline, Van Hul, Wim
Publicado 2020

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

por Pangrazio, Alessandra, Boudin, Eveline, Piters, Elke, Damante, Giuseppe, Iacono, Nadia Lo, D'Elia, Angela Valentina, Vezzoni, Paolo, Van Hul, Wim, Villa, Anna, Sobacchi, Cristina
Publicado 2011

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

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

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

por Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Publicado 2020

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus

por Martínez‐Gil, Núria, Roca‐Ayats, Neus, Atalay, Nurgül, Pineda‐Moncusí, Marta, Garcia‐Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez‐Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna
Publicado 2020

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

por Lauffer, Peter, Boudin, Eveline, van der Kaay, Daniëlle C M, Koene, Saskia, van Haeringen, Arie, van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C R, Mortier, Geert, Espiner, Eric A, van Duyvenvoorde, Hermine A
Publicado 2022

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

por Beyltjens, Tessi, Boudin, Eveline, Revencu, Nicole, Boeckx, Nele, Bertrand, Miriam, Schütz, Leon, Haack, Tobias B, Weber, Axel, Biliouri, Eleni, Vinkšel, Mateja, Zagožen, Anja, Peterlin, Borut, Pai, Shashidhar, Telegrafi, Aida, Henderson, Lindsay B, Ells, Courtney, Turner, Lesley, Wuyts, Wim, Van Hul, Wim, Hendrickx, Gretl, Mortier, Geert R
Publicado 2023

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

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

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

por Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, Bloch-Zupan, Agnès
Publicado 2015