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ArticlesPeer ReviewedFull Text
Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes
Author / Creator:Shahmoradian, Sarah H. ; Lewis, Amanda J. ; Genoud, Christel ; Hench, Jürgen ; Moors, Tim E. ; Navarro, Paula P. ; Castaño-Díez, Daniel ; Schweighauser, Gabriel ; Graff-Meyer, Alexandra ; Goldie, Kenneth N. ; Sütterlin, Rosmarie ; Huisman, Evelien ; Ingrassia, Angela ; Gier, Yvonne de ; Rozemuller, Annemieke J. M. ; Wang, Jing ; Paepe, Anne De ; Erny, Johannes ; Staempfli, Andreas ; Hoernschemeyer, Joerg ; Großerüschkamp, Frederik ; Niedieker, Daniel ; El-Mashtoly, Samir F. ; Quadri, Marialuisa ; Van IJcken, Wilfred F. J. ; Bonifati, Vincenzo ; Gerwert, Klaus ; Bohrmann, Bernd ; Frank, Stephan ; Britschgi, Markus ; Stahlberg, Henning ; Van de Berg, Wilma D. J. ; Lauer, Matthias E.
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2019-07, Vol.22 (7), p.1099-1109
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Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories
Author / Creator:Campens, Laurence, MD ; Demulier, Laurent, MD ; De Groote, Katya, MD ; Vandekerckhove, Kristof, MD ; De Wolf, Daniël, MD, PhD ; Roman, Mary J., MD ; Devereux, Richard B., MD ; De Paepe, Anne, MD, PhD ; De Backer, Julie, MD, PhD
Publisher:United States: Elsevier Inc
Journal title:The American journal of cardiology, 2014-09, Vol.114 (6), p.914-920
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Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes
Author / Creator:De Preter, Katleen ; Vandesompele, Jo ; Heimann, Pierre ; Yigit, Nurten ; Beckman, Siv ; Schramm, Alexander ; Eggert, Angelika ; Stallings, Raymond L ; Benoit, Yves ; Renard, Marleen ; Paepe, Anne De ; Laureys, Geneviève ; Påhlman, Sven ; Speleman, Frank
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2006-09, Vol.7 (9), p.R84-1352, Article R84
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Author / Creator:Loeys, Bart L ; Chen, Junji ; Neptune, Enid R ; Judge, Daniel P ; Podowski, Megan ; Holm, Tammy ; Meyers, Jennifer ; Leitch, Carmen C ; Katsanis, Nicholas ; Sharifi, Neda ; Xu, F Lauren ; Myers, Loretha A ; Spevak, Philip J ; Cameron, Duke E ; Backer, Julie De ; Hellemans, Jan ; Chen, Yan ; Davis, Elaine C ; Webb, Catherine L ; Kress, Wolfram ; Coucke, Paul ; Rifkin, Daniel B ; De Paepe, Anne M ; Dietz, Harry C
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-03, Vol.37 (3), p.275-281
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
Author / Creator:Hellemans, Jan ; Preobrazhenska, Olena ; Willaert, Andy ; Debeer, Philippe ; Verdonk, Peter C M ; Costa, Teresa ; Janssens, Katrien ; Menten, Bjorn ; Roy, Nadine Van ; Vermeulen, Stefan J T ; Savarirayan, Ravi ; Hul, Wim Van ; Vanhoenacker, Filip ; Huylebroeck, Danny ; Paepe, Anne De ; Naeyaert, Jean-Marie ; Vandesompele, Jo ; Speleman, Frank ; Verschueren, Kristin ; Coucke, Paul J ; Mortier, Geert R
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2004-11, Vol.36 (11), p.1213-1218
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Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
Author / Creator:Swinnen, Freya KR ; Coucke, Paul J ; De Paepe, Anne M ; Symoens, Sofie ; Malfait, Fransiska ; Gentile, Filomena V ; Sangiorgi, Luca ; D'Eufemia, Patrizia ; Celli, Mauro ; Garretsen, Ton JTM ; Cremers, Cor WRJ ; Dhooge, Ingeborg JM ; De Leenheer, Els MR
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-12, Vol.6 (1), p.88-88
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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.36-36
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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
Author / Creator:Hellemans, Jan ; Mortier, Geert ; De Paepe, Anne ; Speleman, Frank ; Vandesompele, Jo
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology (Online Edition), 2007-02, Vol.8 (2), p.R19-1501, Article R19
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Osteogenesis imperfecta
Author / Creator:Marini, Joan C. ; Forlino, Antonella ; Bächinger, Hans Peter ; Bishop, Nick J. ; Byers, Peter H. ; Paepe, Anne De ; Fassier, Francois ; Fratzl-Zelman, Nadja ; Kozloff, Kenneth M. ; Krakow, Deborah ; Montpetit, Kathleen ; Semler, Oliver
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2017-08, Vol.3 (1), p.17052-17052
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A Miniaturized Extruder to Prototype Amorphous Solid Dispersions: Selection of Plasticizers for Hot Melt Extrusion
Author / Creator:Lauer, Matthias E. ; Maurer, Reto ; De Paepe, Anne T. ; Stillhart, Cordula ; Jacob, Laurence ; James, Rajesh ; Kojima, Yuki ; Rietmann, Rene ; Kissling, Tom ; Van den Ende, Joost A. ; Schwarz, Sabine ; Grassmann, Olaf ; Page, Susanne
Publisher:Switzerland: MDPI AG
Journal title:Pharmaceutics, 2018-05, Vol.10 (2), p.58
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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene
Author / Creator:Colige, Alain ; Nuytinck, Lieve ; Hausser, Ingrid ; van Essen, Anthonie J. ; Thiry, Marc ; Herens, Christian ; Adès, Lesley C. ; Malfait, Fransiska ; Paepe, Anne De ; Franck, Peter ; Wolff, Gerhard ; Oosterwijk, Jan C. ; Sillevis Smitt, J.H. ; Lapière, Charles M. ; Nusgens, Betty V.
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2004-10, Vol.123 (4), p.656-663
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The revised Ghent nosology for the Marfan syndrome
Author / Creator:Loeys, Bart L ; Dietz, Harry C ; Braverman, Alan C ; Callewaert, Bert L ; De Backer, Julie ; Devereux, Richard B ; Hilhorst-Hofstee, Yvonne ; Jondeau, Guillaume ; Faivre, Laurence ; Milewicz, Dianna M ; Pyeritz, Reed E ; Sponseller, Paul D ; Wordsworth, Paul ; De Paepe, Anne M
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-07, Vol.47 (7), p.476-485
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CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
Author / Creator:Boel, Annekatrien ; De Saffel, Hanna ; Steyaert, Wouter ; Callewaert, Bert ; De Paepe, Anne ; Coucke, Paul J. ; Willaert, Andy
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2018-10, Vol.11 (10)
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
Author / Creator:Gistelinck, Charlotte ; Kwon, Ronald Y. ; Malfait, Fransiska ; Symoens, Sofie ; Harris, Matthew P. ; Henke, Katrin ; Hawkins, Michael B. ; Fisher, Shannon ; Sips, Patrick ; Guillemyn, Brecht ; Bek, Jan Willem ; Vermassen, Petra ; De Saffel, Hanna ; Witten, Paul Eckhard ; Weis, MaryAnn ; De Paepe, Anne ; Eyre, David R. ; Willaert, Andy ; Coucke, Paul J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-08, Vol.115 (34), p.E8037-E8046
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methBLAST and methPrimerDB: web-tools for PCR based methylation analysis
Author / Creator:Pattyn, Filip ; Hoebeeck, Jasmien ; Robbrecht, Piet ; Michels, Evi ; De Paepe, Anne ; Bottu, Guy ; Coornaert, David ; Herzog, Robert ; Speleman, Frank ; Vandesompele, Jo
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2006-11, Vol.7 (1), p.496-496, Article 496
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BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
Author / Creator:Boel, Annekatrien ; Steyaert, Woutert ; De Rocker, Nina ; Menten, Björn ; Callewaert, Bert ; De Paepe, Anne ; Coucke, Paul ; Willaert, Andy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-07, Vol.6 (1), p.30330, Article 30330
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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
Author / Creator:Vandesompele, Jo ; De Preter, Katleen ; Pattyn, Filip ; Poppe, Bruce ; Van Roy, Nadine ; De Paepe, Anne ; Speleman, Frank
Publisher:BioMed Central Ltd
Journal title:Genome Biology (Online Edition), 2002-06, Vol.3 (7), p.453-453, Article research0034.1
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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Author / Creator:Loeys, Bart L ; Schwarze, Ulrike ; Holm, Tammy ; Callewaert, Bert L ; Thomas, George H ; Pannu, Hariyadarshi ; De Backer, Julie F ; Oswald, Gretchen L ; Symoens, Sofie ; Manouvrier, Sylvie ; Roberts, Amy E ; Faravelli, Francesca ; Greco, M. Alba ; Pyeritz, Reed E ; Milewicz, Dianna M ; Coucke, Paul J ; Cameron, Duke E ; Braverman, Alan C ; Byers, Peter H ; De Paepe, Anne M ; Dietz, Harry C
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2006-08, Vol.355 (8), p.788-798
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Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
Author / Creator:Ong, Kim-Thanh, MD ; Perdu, Jérôme, MD ; De Backer, Julie, MD ; Bozec, Erwan, PhD ; Collignon, Patrick, MD ; Emmerich, Joseph, MD ; Fauret, Anne-Laure, MD ; Fiessinger, Jean-Noël, MD ; Germain, Dominique P, MD ; Georgesco, Gabriella, MD ; Hulot, Jean-Sebastien, MD ; De Paepe, Anne, MD ; Plauchu, Henri, MD ; Jeunemaitre, Xavier, MD ; Laurent, Stéphane, MD ; Boutouyrie, Pierre, Dr
Publisher:Kidlington: Elsevier Ltd
Journal title:The Lancet (British edition), 2010-10, Vol.376 (9751), p.1476-1484
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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Author / Creator:Symoens, Sofie ; Malfait, Fransiska ; D’hondt, Sanne ; Callewaert, Bert ; Dheedene, Annelies ; Steyaert, Wouter ; Bächinger, Hans Peter ; De Paepe, Anne ; Kayserili, Hulya ; Coucke, Paul J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.154-154, Article 154
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Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes

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Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories

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Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

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Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

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

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

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Osteogenesis imperfecta

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A Miniaturized Extruder to Prototype Amorphous Solid Dispersions: Selection of Plasticizers for Hot Melt Extrusion

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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

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The revised Ghent nosology for the Marfan syndrome

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

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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

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methBLAST and methPrimerDB: web-tools for PCR based methylation analysis

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

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

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Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

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

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