Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

Por Németh, Csilla E., Nemoda, Zsófia, Lőw, Péter, Szabó, Pál, Horváth, Erzsébet Z., Willaert, Andy, Boel, Annekatrien, Callewaert, Bert L., Coucke, Paul J., Colombi, Marina, Bánhegyi, Gábor, Margittai, Éva
Publicado no Oxid Med Cell Longev (2019)

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

Por Willaert, Andy, Khatri, Sandeep, Callewaert, Bert L., Coucke, Paul J., Crosby, Seth D., Lee, Joseph G. H., Davis, Elaine C., Shiva, Sruti, Tsang, Michael, De Paepe, Anne, Urban, Zsolt
Publicado em 2012

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Por Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Publicado em 2013

GLUT10—Lacking in Arterial Tortuosity Syndrome—Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

Por Gamberucci, Alessandra, Marcolongo, Paola, Németh, Csilla E., Zoppi, Nicoletta, Szarka, András, Chiarelli, Nicola, Hegedűs, Tamás, Ritelli, Marco, Carini, Giulia, Willaert, Andy, Callewaert, Bert L., Coucke, Paul J., Benedetti, Angiolo, Margittai, Éva, Fulceri, Rosella, Bánhegyi, Gábor, Colombi, Marina
Publicado no Int J Mol Sci (2017)

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Por Renard, Marjolijn, Holm, Tammy, Veith, Regan, Callewaert, Bert L, Adès, Lesley C, Baspinar, Osman, Pickart, Angela, Dasouki, Majed, Hoyer, Juliane, Rauch, Anita, Trapane, Pamela, Earing, Michael G, Coucke, Paul J, Sakai, Lynn Y, Dietz, Harry C, De Paepe, Anne M, Loeys, Bart L
Publicado em 2010

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Por Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., Backer, Julie De
Publicado no J Am Coll Cardiol (2018)

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Por Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
Publicado no Genet Med (2020)