PERIPHERAL MECHANISMS CONTRIBUTING TO OSTEOARTHRITIS PAIN

Por Syx, Delfien, Tran, Phuong B., Miller, Rachel E., Malfait, Anne-Marie
Publicado no Curr Rheumatol Rep (2018)

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

Por Symoens, Sofie, Malfait, Fransiska, Vlummens, Philip, Hermanns-Lê, Trinh, Syx, Delfien, De Paepe, Anne
Publicado em 2011

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

Por Syx, Delfien, Symoens, Sofie, Steyaert, Wouter, De Paepe, Anne, Coucke, Paul J., Malfait, Fransiska
Publicado no Dis Markers (2015)

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

Por Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska
Publicado no Orphanet J Rare Dis (2019)

Microarray Analyses of the Dorsal Root Ganglia Support a Role for Innate Neuro-Immune Pathways in Persistent Pain in Experimental Osteoarthritis

Por Miller, Rachel E., Tran, Phuong B., Ishihara, Shingo, Syx, Delfien, Ren, Dongjun, Miller, Richard J., Valdes, Ana M., Malfait, Anne-Marie
Publicado no Osteoarthritis Cartilage (2020)

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Por Naessens, Sarah, De Zaeytijd, Julie, Syx, Delfien, Vandenbroucke, Roosmarijn E., Smeets, Frédéric, Van Cauwenbergh, Caroline, Leroy, Bart P., Peelman, Frank, Coppieters, Frauke
Publicado no Hum Mutat (2019)

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Por Lautrup, Charlotte K., Teik, Keng W., Unzaki, Ai, Mizumoto, Shuji, Syx, Delfien, Sin, Heng H., Nielsen, Irene K., Markholt, Sara, Yamada, Shuhei, Malfait, Fransiska, Matsumoto, Naomichi, Miyake, Noriko, Kosho, Tomoki
Publicado no Mol Genet Genomic Med (2020)

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Por Malfait, Fransiska, Kariminejad, Ariana, Van Damme, Tim, Gauche, Caroline, Syx, Delfien, Merhi-Soussi, Faten, Gulberti, Sandrine, Symoens, Sofie, Vanhauwaert, Suzanne, Willaert, Andy, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Ebrahimiadib, Nazanin, Hausser, Ingrid, Huysseune, Ann, Fournel-Gigleux, Sylvie, De Paepe, Anne
Publicado em 2013

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Por Symoens, Sofie, Barnes, Aileen M., Gistelinck, Charlotte, Malfait, Fransiska, Guillemyn, Brecht, Steyaert, Wouter, Syx, Delfien, D’hondt, Sanne, Biervliet, Martine, De Backer, Julie, Witten, Eckhard P., Leikin, Sergey, Makareeva, Elena, Gillessen-Kaesbach, Gabriele, Huysseune, Ann, Vleminckx, Kris, Willaert, Andy, De Paepe, Anne, Marini, Joan C., Coucke, Paul J.
Publicado no Am J Hum Genet (2015)

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Por Li, Juan, Ritelli, Marco, Ma, Cindy S., Rao, Geetha, Habib, Tanwir, Corvilain, Emilie, Bougarn, Salim, Cypowyj, Sophie, Grodecká, Lucie, Lévy, Romain, Béziat, Vivien, Shang, Lei, Payne, Kathryn, Avery, Danielle T., Migaud, Mélanie, Boucherit, Soraya, Boughorbel, Sabri, Guennoun, Andrea, Chrabieh, Maya, Rapaport, Franck, Bigio, Benedetta, Itan, Yuval, Boisson, Bertrand, Fieschi, Claire, Cormier-Daire, Valérie, Syx, Delfien, Malfait, Fransiska, Zoppi, Nicoletta, Abel, Laurent, Freiberger, Tomáš, Dietz, Harry C., Marr, Nico, Tangye, Stuart G., Colombi, Marina, Casanova, Jean-Laurent, Puel, Anne
Publicado no Sci Immunol (2019)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Por Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Publicado no Am J Hum Genet (2017)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Por Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Publicado no Am J Hum Genet (2020)