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Pseudoxanthoma Elasticum (PXE), A Case Report
2014 A 69-years-old man with hypertention since 15 years who had suffered visual loss was examined in Ophthalmology Department of Pamukkale University. On physical examination, angioid streaks in both eyes and 8-10 yellowish papules on both cruris anterior and on the left popliteal fossa were seen.KELTEN, Esra Canan, DEMİRKAN, Neşe Çallı, ERGİN, Şeniz, ERDOĞAN, Berna, YILDIRIM, Cem +4 moreopenaire +2 more sourcesAdvocacy groups as research organizations: the PXE International example
Nature Reviews Genetics, 2007 Advocacy organizations for genetic diseases are increasingly becoming involved in biomedical research, particularly translational research, in order to meet the needs of the individuals that they serve. PXE International, an advocacy organization for the disease pseudoxanthoma elasticum, provides an example of how research can be accelerated by these ...Sharon F, Terry, Patrick F, Terry, Katherine A, Rauen, Jouni, Uitto, Lionel G, Bercovitch +4 moreopenaire +2 more sourcesFunctional genomics: the PXE model
2004 Pseudoxanthoma elasticum represent a disease model for investigating the relationships bettween altered fibroblast phenotype and elastic fiber degeneration/calcification.RONCHETTI, Ivonne, QUAGLINO, Daniela, GHEDUZZI, Dealba, CROCE, Maria Antonietta, BORALDI, Federica, TIOZZO, Roberta +5 moreopenaire +1 more sourcePXE
2009 Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Alexander K. C. Leung, Alexander K. C. Leung, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Reginald S. Sauve, Verena Matejas, Martin Zenker, Alexander K. C. Leung, Alexander K. C. Leung, William Lane M. Robson, Stefan Beissert, Alexander K. C. Leung, William Lane M. Robson, Tom Y. Woo, Alexander K. C. Leung, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Rade Tomic, Jesse Roman, Richard W. Light, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, John-John B. Schnog, Victor E. A. Gerdes, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Alexander K. C. Leung, Alexander K. C. Leung, William Lane M. Robson, Markus Böhm, Thomas A. Luger, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Alexander K. C. Leung, William Lane M. Robson, Alexander K. C. Leung, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Alexander K. C. Leung, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Hans-Jürgen Gdynia, Albert C. Ludolph, James V. Leonard, Hugo Ten Cate, Karel Geboes, Gert Van Assche, Hugo Ten Cate, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Hugo Ten Cate, Hugo Ten Cate, Jorge Frank, Thomas Schwarz, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christie P. Thomas, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Alexander K. C. Leung, Jouni Uitto, Qiujie Jiang, Alexander K. C. Leung +199 moreopenaire +1 more sourceRearrangements of the ABCC6 gene in Italian patients with PXE
2011 The objective of this study was to search for the deletion of exon 24 and exons 24-27 that had been previously reported in Italian patients affected by pseudoxanthoma elasticum, anb autosomal recessive disorder characterized by calcification and fragmentation of elastic fibers as a conseguence of mutations in the ABCC6 gene.GUERRA, Deanna, COSTA, SONIA, J. ROGGIANI, RABACCHI, CLAUDIO, CALANDRA BUONAURA, Sebastiano, I. PASQUALI RONCHETTI, QUAGLINO, Daniela +6 moreopenaire +1 more source
