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There are 5567 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. 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

    Version of Record online : 29 DEC 2010, DOI: 10.1111/j.1444-0938.2010.00559.x

  3. 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

  4. 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

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33329

  5. 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

    Version of Record online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20632

  6. 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

    Version of Record online : 8 JUN 2007, DOI: 10.1111/j.1600-0560.2006.00705.x

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    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

    Version of Record online : 8 MAR 2015, DOI: 10.1002/mgg3.137

  8. 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

    Version of Record online : 4 APR 2012, DOI: 10.1111/j.1365-2133.2012.10811.x

  9. 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

    Version of Record online : 20 APR 2009, DOI: 10.1111/j.1346-8138.2009.00640.x

  10. Disorders of Connective Tissue

    Rook's Textbook of Dermatology, Seventh Edition

    N. P. Burrows, C. R. Lovell, Pages: 2241–2312, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch46

  11. 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

    Version of Record online : 14 MAY 2013, DOI: 10.1111/scd.12029

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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

    Version of Record online : 21 DEC 2007, DOI: 10.1002/humu.9514

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    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

    Version of Record online : 11 JUL 2006, DOI: 10.1002/humu.9444

  14. 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

    Version of Record online : 5 FEB 2004, DOI: 10.1111/j.1365-2362.2004.01306.x

  15. 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

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1994.tb03990.x

  16. 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

    Version of Record online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1975.tb03117.x

  17. OCULAR FINDINGS IN FOUR SIBLINGS WITH PSEUDOXANTHOMA ELASTICUM

    Acta Ophthalmologica

    Volume 61, Issue 4, August 1983, Pages: 589–599, H. ERKKILÄ, C. RAITTA and K. M. NIEMI

    Version of Record online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1983.tb04349.x

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    Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum

    Human Mutation

    Volume 17, Issue 1, 2001, Pages: 74–75, Jérôme Perdu and Dominique P. Germain

    Version of Record online : 22 DEC 2000, DOI: 10.1002/1098-1004(2001)17:1<74::AID-HUMU14>3.0.CO;2-F

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    ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

    Human Mutation

    Volume 24, Issue 5, November 2004, Pages: 438–439, Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, Patrizia Tarugi, Enza Di Leo, Daniela Quaglino and Ivonne Pasquali Ronchetti

    Version of Record online : 30 SEP 2004, DOI: 10.1002/humu.9284

  20. Pseudoxanthoma elasticum: molecular investigations in a consanguineous family further supports the existence of pseudogenes (ψABCC6) homologous to the ABCC6 gene

    Gene Function & Disease

    Volume 2, Issue 5-6, December 2001, Pages: 208–213, Dominique P. Gernaub, Valéerie Nau, Caroline Esnault, Xavier Jeunemaitre and Patrick Bruneval

    Version of Record online : 18 MAR 2002, DOI: 10.1002/1438-826X(200112)2:5/6<208::AID-GNFD208>3.0.CO;2-G