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

por Marcelis, Stijn, Mortier, Geert, Vanhoenacker, Filip
Publicado 2018

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

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

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

por Hellemans, Jan, Mortier, Geert, De Paepe, Anne, Speleman, Frank, Vandesompele, Jo
Publicado 2007

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

por Das, Liza, Dhiman, Vandana, Van Hul, Wim, Bhansali, Anil, Gogate, Yashpal, Steenackers, Ellen, Mortier, Geert, Bhadada, Sanjay Kumar
Publicado 2020

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

por De Kinderen, Pauline, Peeters, Silke, Rabaut, Laura, Mortier, Geert, Ponsaerts, Peter, Loeys, Bart, Verstraeten, Aline, Meester, Josephina A.N.
Publicado 2023

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

por Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne
Publicado 2013

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

por De Kinderen, Pauline, Rabaut, Laura, Perik, Melanie H.A.M., Peeters, Silke, Ponsaerts, Peter, Loeys, Bart, Mortier, Geert, Meester, Josephina A.N., Verstraeten, Aline
Publicado 2023

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

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

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

Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors

por Vandamme, Timon, Beyens, Matthias, de Beeck, Ken Op, Dogan, Fadime, van Koetsveld, Peter M, Pauwels, Patrick, Mortier, Geert, Vangestel, Christel, de Herder, Wouter, Van Camp, Guy, Peeters, Marc, Hofland, Leo J
Publicado 2016

The first European consensus on principles of management for achondroplasia

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

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

por Menten, Björn, Pattyn, Filip, De Preter, Katleen, Robbrecht, Piet, Michels, Evi, Buysse, Karen, Mortier, Geert, De Paepe, Anne, van Vooren, Steven, Vermeesch, Joris, Moreau, Yves, De Moor, Bart, Vermeulen, Stefan, Speleman, Frank, Vandesompele, Jo
Publicado 2005

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

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

por Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline
Publicado 2013

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

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

Optimising care and follow-up of adults with achondroplasia

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

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

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

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

por Warman, Matthew L, Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Publicado 2011

A catalog of hemizygous variation in 127 22q11 deletion patients

por Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Publicado 2016

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

por Laurent, Michaël R., De Schepper, Jean, Trouet, Dominique, Godefroid, Nathalie, Boros, Emese, Heinrichs, Claudine, Bravenboer, Bert, Velkeniers, Brigitte, Lammens, Johan, Harvengt, Pol, Cavalier, Etienne, Kaux, Jean-François, Lombet, Jacques, De Waele, Kathleen, Verroken, Charlotte, van Hoeck, Koenraad, Mortier, Geert R., Levtchenko, Elena, Vande Walle, Johan
Publicado 2021