Expanding the Phenotype of B3GALNT2-Related Disorders

por D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert
Publicado 2022

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

por Boel, Annekatrien, De Saffel, Hanna, Steyaert, Wouter, Callewaert, Bert, De Paepe, Anne, Coucke, Paul J., Willaert, Andy
Publicado 2018

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

por Boel, Annekatrien, Steyaert, Woutert, De Rocker, Nina, Menten, Björn, Callewaert, Bert, De Paepe, Anne, Coucke, Paul, Willaert, Andy
Publicado 2016

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

por Boel, Annekatrien, Steyaert, Wouter, De Rocker, Nina, Menten, Björn, Callewaert, Bert, De Paepe, Anne, Coucke, Paul, Willaert, Andy
Publicado 2018

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

por Campens, Laurence, Callewaert, Bert, Muiño Mosquera, Laura, Renard, Marjolijn, Symoens, Sofie, De Paepe, Anne, Coucke, Paul, De Backer, Julie
Publicado 2015

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

por Pottie, Lore, Van Gool, Wouter, Vanhooydonck, Michiel, Hanisch, Franz-Georg, Goeminne, Geert, Rajkovic, Andreja, Coucke, Paul, Sips, Patrick, Callewaert, Bert
Publicado 2021

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

por Verlee, Maxim, Beyens, Aude, Gezdirici, Alper, Gulec, Elif Yilmaz, Pottie, Lore, De Feyter, Silke, Vanhooydonck, Michiel, Tapaneeyaphan, Piyanoot, Symoens, Sofie, Callewaert, Bert
Publicado 2021

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

por Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Publicado 2013

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

por Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine
Publicado 2014

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

por Essawi, Osama, Symoens, Sofie, Fannana, Maha, Darwish, Mohammad, Farraj, Mohammad, Willaert, Andy, Essawi, Tamer, Callewaert, Bert, De Paepe, Anne, Malfait, Fransiska, Coucke, Paul J.
Publicado 2017

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

por Hulle, Severine Van, Craen, Margarita, Callewaert, Bert, Joustra, Sjoerd, Oostdijk, Wilma, Losekoot, Monique, Wit, Jan Maarten, Turgeon, Marc Olivier, Bernard, Daniel J., Schepper, Jean De
Publicado 2016

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 2019

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

por Beyens, Aude, Van Meensel, Kyaran, Pottie, Lore, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Hoebeke, Piet, Plasschaert, Frank, Loeys, Bart, De Schepper, Sofie, Symoens, Sofie, Callewaert, Bert
Publicado 2019

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

por Meerschaut, Ilse, Vergult, Sarah, Dheedene, Annelies, Menten, Björn, De Groote, Katya, De Wilde, Hans, Muiño Mosquera, Laura, Panzer, Joseph, Vandekerckhove, Kristof, Coucke, Paul J., De Wolf, Daniël, Callewaert, Bert
Publicado 2021

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathi...

por Beyens, Aude, Dequeker, Laure, Brems, Hilde, Janssens, Sandra, Syryn, Hannes, D’Hooghe, Anne, De Paepe, Pascale, Vanwalleghem, Lieve, Stockman, Annelies, Vankwikelberge, Elena, De Schepper, Sofie, Goeteyn, Marleen, Delbeke, Patricia, Callewaert, Bert
Publicado 2022

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

por Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, Waele, Kathleen De, Schepper, Jean De, François, Inge, Menten, Björn, Heath, Karen E., Gómez-Skarmeta, José Luis, Baere, Elfride De
Publicado 2015

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 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 2017

Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA

por Meerschaut, Ilse, Steyaert, Wouter, Bové, Thierry, François, Katrien, Martens, Thomas, De Groote, Katya, De Wilde, Hans, Muiño Mosquera, Laura, Panzer, Joseph, Vandekerckhove, Kristof, Moons, Lara, Vermassen, Petra, Symoens, Sofie, Coucke, Paul J., De Wolf, Daniël, Callewaert, Bert
Publicado 2022

Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

por Renard, Marjolijn, Trachet, Bram, Casteleyn, Christophe, Campens, Laurence, Cornillie, Pieter, Callewaert, Bert, Deleye, Steven, Vandeghinste, Bert, van Heijningen, Paula M., Dietz, Harry, De Vos, Filip, Essers, Jeroen, Staelens, Steven, Segers, Patrick, Loeys, Bart, Coucke, Paul, De Paepe, Anne, De Backer, Julie
Publicado 2014