Search Results - "Paepe, Anne De"

Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes by 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.

“…Parkinson’s disease, the most common age-related movement disorder, is a progressive neurodegenerative disease with unclear etiology. Key neuropathological…”
Get full text

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

“…Thoracic aortic dilatation requires accurate and timely detection to prevent progression to thoracic aortic aneurysm and aortic dissection. The detection of…”
Get full text

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures by Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly

“…Objective Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH…”
Get full text

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome by De Wandele, Inge, MSc, PT, Rombaut, Lies, PhD, PT, Leybaert, Luc, PhD, MD, Van de Borne, Philippe, PhD, MD, De Backer, Tine, PhD, MD, Malfait, Fransiska, PhD, MD, De Paepe, Anne, PhD, MD, Calders, Patrick, PhD

“…Abstract Objectives Many non-musculoskeletal complaints in EDS-HT may be related to dysautonomia. This study therefore aims to investigate whether dysautonomia…”
Get full text

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

“…Proteoglycans are important components of cell plasma membranes and extracellular matrices of connective tissues. They consist of glycosaminoglycan chains…”
Get full text

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India by Shenoy, Rathika D., Shetty, Vikram, Dheedene, Annelies, Menten, Björn, Pandyanda Nanjappa, Dechamma, Chakraborty, Gunimala, Sips, Patrick, de Paepe, Anne, Callewaert, Bert, Chakraborty, Anirban

“…Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the…”
Get full text

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome by CARMIGNAC, Virginie, THEVENON, Julien, RENARD, Marjolijn, PLAUCHU, Henri, PLESSIS, Ghislaine, DE BACKER, Julie, CHILD, Anne, ARNO, Gavin, DUPLOMB, Laurence, CALLIER, Patrick, ARAL, Bernard, VABRES, Pierre, ADES, Lesley, GIGOT, Nadege, ARBUSTINI, Eloisa, GRASSO, Maurizia, ROBINSON, Peter N, GOIZET, Cyril, BAUMANN, Clarisse, DI ROCCO, Maja, DEL POZO, Jaime Sanchez, HUET, Frédéric, JONDEAU, Guillaume, CALLEWAERT, Bert, COLLOD-BEROUD, Gwenaelle, BEROUD, Christophe, AMIEL, Jeanne, CORMIER-DAIRE, Valérie, RIVIERE, Jean-Baptiste, BOILEAU, Catherine, DE PAEPE, Anne, FAIVRE, Laurence, JULIA, Sophie, THAUVIN-ROBINET, Christel, GUENEAU, Lucie, COURCET, Jean-Benoit, LOPEZ, Estelle, HOLMAN, Katherine

“…Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and…”
Get full text

Application of Imaging Techniques to Cases of Drug-Induced Crystal Nephropathy in Preclinical Studies by Lenz, Barbara, Brink, Andreas, Siam, Monira, De Paepe, Anne, Bassett, Simon, Eichinger-Chapelon, Anne, Maliver, Pierre, Neff, Rachel, Niederhauser, Urs, Steinhuber, Bernd, Zurbach, Raphael, Singer, Thomas, Funk, Christoph, Schuler, Franz, Albassam, Mudher, Schadt, Simone

“…Abstract A number of drugs can cause precipitates within renal tubules leading to crystal nephropathy. Crystal nephropathy is usually an exposure-related…”
Get full text

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing by Acke, Frederic R., Malfait, Fransiska, Vanakker, Olivier M., Steyaert, Wouter, De Leeneer, Kim, Mortier, Geert, Dhooge, Ingeborg, De Paepe, Anne, De Leenheer, Els M.R., Coucke, Paul J.

“…Stickler syndrome is caused by mutations in genes encoding type II and type XI collagens. About 85% of the pathogenic variants is found in COL2A1 (Stickler…”
Get full text

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

“…We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor β receptor in ten families with a newly described…”
Get full text

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis by Vandesompele, Jo, Verschueren, Kristin, Savarirayan, Ravi, Costa, Teresa, Huylebroeck, Danny, Mortier, Geert R, Willaert, Andy, Preobrazhenska, Olena, Janssens, Katrien, Vermeulen, Stefan J T, Naeyaert, Jean-Marie, Hul, Wim Van, Coucke, Paul J, Paepe, Anne De, Menten, Bjorn, Hellemans, Jan, Debeer, Philippe, Verdonk, Peter C M, Vanhoenacker, Filip, Speleman, Frank, Roy, Nadine Van

“…Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of…”
Get full text

A Miniaturized Extruder to Prototype Amorphous Solid Dispersions: Selection of Plasticizers for Hot Melt Extrusion by Lauer, Matthias E, Maurer, Reto, Paepe, Anne T De, Stillhart, Cordula, Jacob, Laurence, James, Rajesh, Kojima, Yuki, Rietmann, Rene, Kissling, Tom, van den Ende, Joost A, Schwarz, Sabine, Grassmann, Olaf, Page, Susanne

“…Hot-melt extrusion is an option to fabricate amorphous solid dispersions and to enhance oral bioavailability of poorly soluble compounds. The selection of…”
Get full text

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype by Swinnen, Freya K R, Coucke, Paul J, De Paepe, Anne M, Symoens, Sofie, Malfait, Fransiska, Gentile, Filomena V, Sangiorgi, Luca, D'Eufemia, Patrizia, Celli, Mauro, Garretsen, Ton J T M, Cremers, Cor W R J, Dhooge, Ingeborg J M, De Leenheer, Els M R

“…Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing…”
Get full text

Aberrant methylation of candidate tumor suppressor genes in neuroblastoma by Hoebeeck, Jasmien, Michels, Evi, Pattyn, Filip, Combaret, Valérie, Vermeulen, Joëlle, Yigit, Nurten, Hoyoux, Claire, Laureys, Geneviève, Paepe, Anne De, Speleman, Frank, Vandesompele, Jo

“…Abstract CpG island hypermethylation has been recognized as an alternative mechanism for tumor suppressor gene inactivation. In this study, we performed…”
Get full text

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity by Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, De Backer, Julie, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine

“…Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin,…”
Get full text

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation by De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine

“…Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian…”
Get full text

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data by Hellemans, Jan, Mortier, Geert, De Paepe, Anne, Speleman, Frank, Vandesompele, Jo

“…Although quantitative PCR (qPCR) is becoming the method of choice for expression profiling of selected genes, accurate and straightforward processing of the…”
Get full text

Osteogenesis imperfecta by 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

“…Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually…”
Get full text

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum by Le Saux, Olivier, Beck, Konstanze, Sachsinger, Christine, Silvestri, Chiara, Treiber, Carina, Göring, Harald H.H., Johnson, Eric W., De Paepe, Anne, Pope, F. Michael, Pasquali-Ronchetti, Ivonne, Bercovitch, Lionel, Terry, Sharon, Boyd, Charles D.

“…To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (…”
Get full text

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

“…Ehlers–Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by…”
Get full text