Search Results - Bert Callewaert

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  1. 1
    <scp><i>ATP7A</i></scp>‐related copper transport disorders: A systematic review and definition of the clinical subtypes

    <scp><i>ATP7A</i></scp>‐related copper transport disorders: A systematic review and definition of the clinical subtypes by Silke De Feyter, Aude Beyens, Bert Callewaert

    Published 2023
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  2. 2
    The Genetics of Soft Connective Tissue Disorders

    The Genetics of Soft Connective Tissue Disorders by Olivier Vanakker, Bert Callewaert, Fransiska Malfait, Paul Coucke

    Published 2015
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  3. 3
    Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology

    Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology by Aude Beyens, Annekatrien Boel, Sofie Symoens, Bert Callewaert

    Published 2020
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  4. 4
    Ehlers-Danlos syndromes and Marfan syndrome

    Ehlers-Danlos syndromes and Marfan syndrome by Bert Callewaert, Fransiska Malfait, Bart Loeys, Anne De Paepe

    Published 2008
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  5. 5
    CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

    CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments by Annekatrien Boel, Hanna De Saffel, Wouter Steyaert, Bert Callewaert, Anne De Paepe, Paul Coucke, Andy Willaert

    Published 2018
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  6. 6
    BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

    BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment by Annekatrien Boel, Wouter Steyaert, Nina De Rocker, Björn Menten, Bert Callewaert, Anne De Paepe, Paul Coucke, Andy Willaert

    Published 2016
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  7. 7
    Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

    Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients by Laurence Campens, Bert Callewaert, Laura Muiño Mosquera, Marjolijn Renard, Sofie Symoens, Anne De Paepe, Paul Coucke, Julie De Backer

    Published 2015
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  8. 8
    A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

    A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix by Stylianos Z. Karoulias, Aude Beyens, Zerina Balic, Sofie Symoens, Anthony Vandersteen, Andrea L. Rideout, John D. Dickinson, Bert Callewaert, Dirk Hubmacher

    Published 2019
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  9. 9
    Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

    Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans by Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hülya Kayserili, Paul Coucke

    Published 2013
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  10. 10
    Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

    Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development by Dorien Baetens, Wilhelm Mladenov, Barbara Delle Chiaie, Björn Menten, An Desloovere, Violeta Iotova, Bert Callewaert, Erik Van Laecke, Piet Hoebeke, Elfride De Baere, Martine Cools

    Published 2014
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  11. 11
    Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

    Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2 by Marjolijn Renard, Bert Callewaert, Fransiska Malfait, Laurence Campens, Saba Sharif, Miguel Del Campo, Irene Valenzuela, Catherine McWilliam, Paul Coucke, Anne De Paepe, Julie De Backer

    Published 2012
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  12. 12
    Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

    Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 by Björn Fischer‐Zirnsak, Bert Callewaert, Phillipe Schröter, Paul Coucke, Claire Schlack, Claus‐Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Éva Morava, Anna Ficcadenti, Uwe Kornak

    Published 2014
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  13. 13
    GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

    GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling by Andy Willaert, Sandeep Khatri, Bert Callewaert, Paul Coucke, Seth D. Crosby, Joseph G. H. Lee, Elaine C. Davis, Sruti Shiva, Michael Tsang, Anne De Paepe, Zsolt Urbán

    Published 2011
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  14. 14
    New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations

    New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations by Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Haußer, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul Coucke, Anne De Paepe, Zsolt Urbán

    Published 2011
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  15. 15
    Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

    Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment by Lisa Hamerlinck, Eva D’haene, Nore Van Loon, Michael Vaughan, María del Rocío Pérez Baca, Sebastian Leimbacher, Lara Colombo, Lies Vantomme, Esperanza Daal, Annelies Dheedene, Himanshu Goel, Björn Menten, Bert Callewaert, Sarah Vergult

    Published 2025
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  16. 16
    The revised Ghent nosology for the Marfan syndrome

    The revised Ghent nosology for the Marfan syndrome by Bart Loeys, Harry C. Dietz, Alan C. Braverman, Bert Callewaert, Julie De Backer, Richard B. Devereux, Yvonne Hilhorst‐Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M. Milewicz, Reed E. Pyeritz, Paul D. Sponseller, B P Wordsworth, Anne M. De Paepe

    Published 2010
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  17. 17
    Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

    Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency by Marjolijn Renard, Tammy M. Holm, Regan Veith, Bert Callewaert, Lesley C. Adès, Osman Başpınar, Angela Pickart, Majed Dasouki, Juliane Hoyer, Anita Rauch, Pamela Trapane, Michael G. Earing, Paul Coucke, Lynn Y. Sakai, Harry C. Dietz, Anne M. De Paepe, Bart Loeys

    Published 2010
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  18. 18
    Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

    Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD by Marjolijn Renard, Bert Callewaert, Machteld Baetens, Laurence Campens, Kay MacDermot, Jean‐Pierre Fryns, M Bonduelle, Harry C. Dietz, Isabel Gaspar, Diogo Cavaco, Eva-Lena Stattin, C. T. R. M. Schrander‐Stumpel, Paul Coucke, Bart Loeys, Anne De Paepe, Julie De Backer

    Published 2011
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  19. 19
    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome by Paul Coucke, Andy Willaert, Marja W. Wessels, Bert Callewaert, Nicoletta Zoppi, Julie De Backer, Joyce E. Fox, Grazia M.S. Mancini, Marios Kambouris, Rita Gardella, Fabio Facchetti, Patrick J. Willems, Ramses Forsyth, Harry C. Dietz, Sergio Barlati, Marina Colombi, Bart Loeys, Anne De Paepe

    Published 2006
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  20. 20
    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature by Bert Callewaert, Bart Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Mariëlle E.M. Swinkels, Carina Wallgren‐Pettersson, Orazio Gabrielli, Julie De Backer, Paul Coucke, Anne M. De Paepe

    Published 2008
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