Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate
Omarjee, L., Nitschke, Y., Verschuere, S., Bourrat, E., Vignon, M.‐D., Navasiolava, N., Leftheriotis, G., Kauffenstein, G., Rutsch, F., Vanakker, O.M., Martin, L.
Published in British journal of dermatology (1951) (01.08.2020)
Published in British journal of dermatology (1951) (01.08.2020)
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Cellular signaling in pseudoxanthoma elasticum: an update
Van Gils, M., Nollet, L., Verly, E., Deianova, N., Vanakker, O.M.
Published in Cellular signalling (01.03.2019)
Published in Cellular signalling (01.03.2019)
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The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum
Van Gils, M, Willaert, A, Coucke, P J, Vanakker, O M
Published in Frontiers in pharmacology (04.03.2022)
Published in Frontiers in pharmacology (04.03.2022)
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Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish
Van Gils, M., Willaert, A., De Vilder, E.Y.G., Coucke, P.J., Vanakker, O.M.
Published in Journal of investigative dermatology (01.11.2018)
Published in Journal of investigative dermatology (01.11.2018)
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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Pfendner, Ellen G, Vanakker, Olivier M, Terry, Sharon F, Vourthis, Sophia, McAndrew, Patricia E, McClain, Monica R, Fratta, Sarah, Marais, Anna-Susan, Hariri, Susan, Coucke, Paul J, Ramsay, Michele, Viljoen, Denis, Terry, Patrick F, De Paepe, Anne, Uitto, Jouni, Bercovitch, Lionel G
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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PP13.9 – 2836: Variants in the NR3C2 gene as possible genetic predisposition for the development of multiple sclerosis
Verhelst, H, Mets, G, Verloo, P, D'Hooghe, M, Symons, A, Nagels, G, Menten, B, Debruyne, J, Van Coster, R, Vanakker, O
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Costrop, Laura M F, Vanakker, Olivier O M, Van Laer, Lut, Le Saux, Olivier, Martin, Ludovic, Chassaing, Nicolas, Guerra, Deanna, Pasquali-Ronchetti, Ivonne, Coucke, Paul J, De Paepe, Anne
Published in Journal of human genetics (01.02.2010)
Published in Journal of human genetics (01.02.2010)
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Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers
Vanakker, O M, Voet, D, Petrovic, M, van Robaeys, F, Leroy, B P, Coucke, P, de Paepe, A
Published in British journal of radiology (01.03.2006)
Published in British journal of radiology (01.03.2006)
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Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene
Tan, M H, Vanakker, O M, Tran, H V, Robson, A G, Lai-Cheong, J E, Groves, R, Holder, G E, Moore, A T
Published in Eye (London) (01.05.2012)
Published in Eye (London) (01.05.2012)
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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Symoens, Sofie, Syx, Delfien, Malfait, Fransiska, Callewaert, Bert, De Backer, Julie, Vanakker, Olivier, Coucke, Paul, De Paepe, Anne
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João R M, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, Coppola, Giovanni
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Costrop, Laura MF, Vanakker, Olivier OM, Van Laer, Lut, Le Saux, Olivier, Martin, Ludovic, Chassaing, Nicolas, Guerra, Deanna, Ronchetti, Ivonne Pasquali, Coucke, Paul J, De Paepe, Anne
Published in Journal of human genetics (01.02.2010)
Published in Journal of human genetics (01.02.2010)
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290 Nonlinear microscopy for the visualization of calcification and assessment of connective tissue fibers in pseudoxanthoma elasticum
Kiss, N., Fesus, L., Szeri, F., Aranyi, T., Van Gils, M., Vanakker, O., Martin, L., Szipocs, R., Wikonkal, N., Medvecz, M.
Published in Journal of investigative dermatology (01.09.2019)
Published in Journal of investigative dermatology (01.09.2019)
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59. PREIMPLANTATION GENETIC TESTING FOR HERITABLE CONNECTIVE TISSUE DISEASES
Symoens, S., Van Tongerloo, A., Van Acker, P., Van Holm, E., Weytens, J., Geril, A., De Croo, I., Hellemans, S., Szymczak, V., Malfait, F., Vanakker, O., Callewaert, B., De Backer, J., De Paepe, A., De Sutter, P., Coucke, P., Janssens, S.
Published in Reproductive biomedicine online (01.08.2019)
Published in Reproductive biomedicine online (01.08.2019)
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Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet
Bäck, Magnus, Aranyi, Tamas, Cancela, M Leonor, Carracedo, Miguel, Conceição, Natércia, Leftheriotis, Georges, Macrae, Vicky, Martin, Ludovic, Nitschke, Yvonne, Pasch, Andreas, Quaglino, Daniela, Rutsch, Frank, Shanahan, Catherine, Sorribas, Victor, Szeri, Flora, Valdivielso, Pedro, Vanakker, Olivier, Kempf, Hervé
Published in Frontiers in cardiovascular medicine (18.01.2019)
Published in Frontiers in cardiovascular medicine (18.01.2019)
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A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)
Descamps, Olivier S., Van Caenegem, Olivier, Hermans, Michel P., Balligand, Jean-Luc, Beauloye, Christophe, Bondue, Antoine, Carlier, Stéphane, Castermans, Emilie, Chenot, Fabien, Claeys, Marc, De Block, Christophe, de Leener, Anne, De Meester, Antoine, Demeure, Fabian, De Raedt, Herbert, Desmet, Walter, Elegeert, Ivan, Guillaume, Michel, Hoffer, Etienne, Kacenelenbogen, Raymond, Lancellotti, Patrizio, Langlois, Michel, Leone, Attilio, Mertens, Ann, Paquot, Nicolas, Vanakker, Olivier, Vanoverschelde, Jean-Louis, Verhaegen, Ann, Vermeersch, Pieter, Wallemacq, Caroline, Rietzschel, Ernst
Published in Atherosclerosis (01.10.2018)
Published in Atherosclerosis (01.10.2018)
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Acral acquired cutis laxa associated with IgA multiple myeloma, joint hyperlaxity and urticarial neutrophilic dermatosis
Kluger, Nicolas, Molès, Jean-Pierre, Vanakker, Olivier M, Pernet, Charlotte, Beylot-Barry, Marie, Bessis, Didier
Published in Acta dermato-venereologica (01.11.2014)
Published in Acta dermato-venereologica (01.11.2014)
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