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There are 4523 results for: content related to: Varied presentations of pseudoxanthoma elasticum in a family

  1. Pseudoxanthoma Elasticum

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Kenneth H. Neldner, Berthold Struk, Pages: 561–583, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch11

  2. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 1049–1058, Astrid S. Plomp, Johan Toonstra, Arthur A.B. Bergen, Marijke R. van Dijk and Paulus T.V.M. de Jong

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33329

  3. Does autosomal dominant pseudoxanthoma elasticum exist?

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 4, 1 May 2004, Pages: 403–412, Astrid S. Plomp, Xiaofeng Hu, Paulus T.V.M. de Jong and Arthur A.B. Bergen

    Article first published online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20632

  4. Pseudoxanthoma Elasticum

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Anne Han, Mark Lebwohl, Pages: 144.1–144.10, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch144

  5. Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum

    Journal of Cutaneous Pathology

    Volume 34, Issue 10, October 2007, Pages: 777–781, Anneli R. Bowen, Christian Götting, Philip E. LeBoit and Timothy H. McCalmont

    Article first published online : 8 JUN 2007, DOI: 10.1111/j.1600-0560.2006.00705.x

  6. You have free access to this content
    Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

    Clinical and Experimental Optometry

    Volume 94, Issue 2, March 2011, Pages: 169–180, Ilias Georgalas, Ioannis Tservakis, Dimitris Papaconstaninou, Marina Kardara, Chryssanthi Koutsandrea and Ioannis Ladas

    Article first published online : 29 DEC 2010, DOI: 10.1111/j.1444-0938.2010.00559.x

  7. You have free access to this content
    Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)

    Human Mutation

    Volume 27, Issue 8, August 2006, Page: 831, Veronika Schulz, Doris Hendig, Maja Henjakovic, Christiane Szliska, Knut Kleesiek and Christian Götting

    Article first published online : 11 JUL 2006, DOI: 10.1002/humu.9444

  8. High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum

    European Journal of Clinical Investigation

    Volume 34, Issue 2, February 2004, Pages: 156–164, L. Annovazzi, S. Viglio, D. Gheduzzi, I. Pasquali-Ronchetti, C. Zanone, G. Cetta and P. Iadarola

    Article first published online : 5 FEB 2004, DOI: 10.1111/j.1365-2362.2004.01306.x

  9. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum

    British Journal of Dermatology

    Volume 92, Issue 5, May 1975, Pages: 493–509, F.M. POPE

    Article first published online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1975.tb03117.x

  10. You have full text access to this OnlineOpen article
    Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 3, May 2015, Pages: 233–237, Marianne K. Kringen, Camilla Stormo, Jens Petter Berg, Sharon F. Terry, Christine M. Vocke, Samar Rizvi, Doris Hendig and Armin P. Piehler

    Article first published online : 8 MAR 2015, DOI: 10.1002/mgg3.137

  11. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

    British Journal of Dermatology

    Volume 166, Issue 5, May 2012, Pages: 1107–1111, Q. Li, W. Schumacher, D. Jablonski, D. Siegel and J. Uitto

    Article first published online : 4 APR 2012, DOI: 10.1111/j.1365-2133.2012.10811.x

  12. Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity

    The Journal of Dermatology

    Volume 36, Issue 5, May 2009, Pages: 288–292, Woo Jin LEE, Hana BAK, Sung Eun CHANG, Mi Woo LEE, Jee Ho CHOI, Kee Chan MOON and Jai Kyoung KOH

    Article first published online : 20 APR 2009, DOI: 10.1111/j.1346-8138.2009.00640.x

  13. Temporomandibular disorder in a patient with pseudoxanthoma elasticum: a case report and review

    Special Care in Dentistry

    Volume 33, Issue 5, September/October 2013, Pages: 255–259, Christine Nadeau, Arthur S. Kuperstein, Muralidhar Mupparapu and Eric T. Stoopler

    Article first published online : 14 MAY 2013, DOI: 10.1111/scd.12029

  14. Magnesium Reduces Carotid Intima-Media Thickness in a Mouse Model of Pseudoxanthoma Elasticum: A Novel Treatment Biomarker

    Clinical and Translational Science

    Volume 5, Issue 3, June 2012, Pages: 259–264, Erine A. Kupetsky-Rincon, Qiaoli Li and Jouni Uitto

    Article first published online : 11 JUN 2012, DOI: 10.1111/j.1752-8062.2011.00390.x

  15. Researching the biology of PXE: Partnering in the process

    American Journal of Medical Genetics

    Volume 106, Issue 3, Autumn (Fall) 2001, Pages: 177–184, Sharon F. Terry and Charles D. Boyd

    Article first published online : 9 SEP 2001, DOI: 10.1002/ajmg.10014

  16. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

    Human Mutation

    Volume 26, Issue 3, September 2005, Pages: 235–248, Sara Miksch, Amanda Lumsden, Ulf P. Guenther, Dorothee Foernzler, Stéphanie Christen-Zäch, Carol Daugherty, Raj Kumar S. Ramesar, Mark Lebwohl, Daniel Hohl, Kenneth H. Neldner, Klaus Lindpaintner, Robert I. Richards and Berthold Struk

    Article first published online : 5 AUG 2005, DOI: 10.1002/humu.20206

  17. Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum

    Cell Biochemistry and Function

    Volume 14, Issue 2, June 1996, Pages: 111–120, A. Passi, R. Albertini, M. Baccarani Contri, G. de Luca, A. de Paepe, G. Pallavicini, I. Pasquali Ronchetti and R. Tiozzo

    Article first published online : 4 DEC 1998, DOI: 10.1002/cbf.653

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    Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

    Human Mutation

    Volume 29, Issue 1, January 2008, Page: 205, Olivier M. Vanakker, Bart P. Leroy, Paul Coucke, Lionel G. Bercovitch, Jouni Uitto, Dennis Viljoen, Sharon F. Terry, Petra Van Acker, Dirk Matthys, Bart Loeys and Anne De Paepe

    Article first published online : 21 DEC 2007, DOI: 10.1002/humu.9514

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    Neutrophil elastase in patients with homozygous β-thalassemia and pseudoxanthoma elasticum-like syndrome

    American Journal of Hematology

    Volume 63, Issue 2, February 2000, Pages: 63–67, M. Samarkos, A. Aessopos, C. Fragodimitri, M. Karagiorga, V. Kalotychou, E. Voskaridou, E. Kavouklis and D. Loukopoulos

    Article first published online : 10 JAN 2000, DOI: 10.1002/(SICI)1096-8652(200002)63:2<63::AID-AJH1>3.0.CO;2-4

  20. Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family

    Clinical Genetics

    Volume 45, Issue 1, January 1994, Pages: 48–51, M. C. Raybould, A. J. Birley, C. Moss, M. Hultén and C. M. E. McKeown

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1994.tb03990.x