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There are 8742 results for: content related to: Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome

  1. The Ehlers–Danlos syndromes, rare types

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 175, Issue 1, March 2017, Pages: 70–115, Angela F. Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F. Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke and Fransiska Malfait

    Version of Record online : 17 MAR 2017, DOI: 10.1002/ajmg.c.31550

  2. The neuromuscular differential diagnosis of joint hypermobility

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

  3. You have free access to this content
    Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 6–22, Marina Colombi, Chiara Dordoni, Nicola Chiarelli and Marco Ritelli

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31429

  4. Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 850–855, N.C. Voermans, M. Kempers, M. Lammens, N. van Alfen, M.C. Janssen, C. Bönnemann, B.G. van Engelen and B.C. Hamel

    Version of Record online : 9 MAR 2012, DOI: 10.1002/ajmg.a.35232

  5. The Ehlers-Danlos Syndrome

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

    Beat Steinmann, Peter M. Royce, Andrea Superti-Furga, Pages: 431–523, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch9

  6. Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 84–96, Marco Castori, Silvia Morlino, Giulia Ghibellini, Claudia Celletti, Filippo Camerota and Paola Grammatico

    Version of Record online : 5 FEB 2015, DOI: 10.1002/ajmg.c.31426

  7. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 158–164, Cecilia Giunta, Ann Randolph, Lihadh I. Al-Gazali, Han G. Brunner, Marius E. Kraenzlin and Beat Steinmann

    Version of Record online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30529

  8. You have free access to this content
    The neuromuscular differential diagnosis of joint hypermobility; S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth, and N. C. Voermans; Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23–42

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 285–286, S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth and N. C. Voermans

    Version of Record online : 18 OCT 2015, DOI: 10.1002/ajmg.a.37244

    This article corrects:

    The neuromuscular differential diagnosis of joint hypermobility

    Vol. 169, Issue 1, 23–42, Version of Record online: 26 MAR 2015

  9. Neuromuscular features in Marfan syndrome

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 25–37, NC Voermans, J Timmermans, N Van Alfen, S Pillen, J Op Den Akker, M Lammens, MJ Zwarts, IALM Van Rooij, BC Hamel and BG Van Engelen

    Version of Record online : 15 JUL 2009, DOI: 10.1111/j.1399-0004.2009.01197.x

  10. The Ehlers–Danlos syndrome, a disorder with many faces

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 1–11, A De Paepe and F Malfait

    Version of Record online : 15 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01858.x

  11. The 2017 international classification of the Ehlers–Danlos syndromes

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 175, Issue 1, March 2017, Pages: 8–26, Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M. Bowen, Angela F. Brady, Nigel P. Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J. Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke and Brad Tinkle

    Version of Record online : 17 MAR 2017, DOI: 10.1002/ajmg.c.31552

  12. A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1333–1346, Tomoki Kosho, Noriko Miyake, Atsushi Hatamochi, Jun Takahashi, Hiroyuki Kato, Teruyoshi Miyahara, Yasuhiko Igawa, Hiroshi Yasui, Tadao Ishida, Kurahito Ono, Takashi Kosuda, Akihiko Inoue, Mohei Kohyama, Tadashi Hattori, Hirofumi Ohashi, Gen Nishimura, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima and Naomichi Matsumoto

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33498

  13. Noninvasive mechanical ventilation and corrective surgery for treatment of a child with severe kyphoscoliosis

    Pediatric Pulmonology

    Volume 32, Issue 5, November 2001, Pages: 403–405, Fernando González Lorenzo, Salvador Díaz Lobato, Francisco Pérez Grueso and José Villamor León

    Version of Record online : 9 OCT 2001, DOI: 10.1002/ppul.1150

  14. The neuromuscular basis of hereditary kyphoscoliosis in the mouse

    Muscle & Nerve

    Volume 15, Issue 2, February 1992, Pages: 172–179, Dr. Leslie R. Bridges, Dr. Gary R. Coulton, Dr. Gillian Howard, Dr. Jill Moss and Dr. Roger M. Mason

    Version of Record online : 13 OCT 2004, DOI: 10.1002/mus.880150208

  15. New sex attractants for male Lepidoptera (Coleophoridae, Gelechiidae, Momphidae, Oecophoridae, and Yponomeutidae) found by field screening in The Netherlands

    Journal of Applied Entomology

    Volume 103, Issue 1-5, January/December 1987, Pages: 508–515, L. P. M. Willemse, C. J. H. Booij and S. Voerman

    Version of Record online : 26 AUG 2009, DOI: 10.1111/j.1439-0418.1987.tb01016.x

  16. Ehlers-Danlos Syndromes

    Management of Genetic Syndromes

    Brad T. Tinkle, Carrie L. Atzinger, Pages: 337–361, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch24

  17. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

  18. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 103–115, Andreas R. Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek and Beat Steinmann

    Version of Record online : 16 SEP 2015, DOI: 10.1002/ajmg.a.37383

  19. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2055–2070, Marco Castori, Silvia Morlino, Claudia Celletti, Mauro Celli, Aldo Morrone, Marina Colombi, Filippo Camerota and Paola Grammatico

    Version of Record online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35483

  20. Ehlers–Danlos Syndromes

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

    Nigel P. Burrows, Navjeet Sidhu-Malik, Heather N. Yeowell, Pages: 142.1–142.15, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch142