Search Results

There are 23538 results for: content related to: Classic EDS: Simply a type v collagen deficiency story?

  1. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1485–1493, Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke and Anne De Paepe

    Article first published online : 5 JUL 2012, DOI: 10.1002/humu.22137

  2. Molecular genetics in classic Ehlers–Danlos syndrome

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

    Volume 139C, Issue 1, 15 November 2005, Pages: 17–23, Fransiska Malfait and Anne de Paepe

    Article first published online : 8 NOV 2005, DOI: 10.1002/ajmg.c.30070

  3. Polymorphisms within the COL5A1 3′-UTR That Alters mRNA Structure and the MIR608 Gene are Associated with Achilles Tendinopathy

    Annals of Human Genetics

    Volume 77, Issue 3, May 2013, Pages: 204–214, Yoonus Abrahams, Mary-Jessica Laguette, Sharon Prince and Malcolm Collins

    Article first published online : 24 JAN 2013, DOI: 10.1111/ahg.12013

  4. You have full text access to this OnlineOpen article
    Immune response to extracellular matrix collagen in chronic hepatitis C–induced liver fibrosis

    Liver Transplantation

    Volume 17, Issue 7, July 2011, Pages: 814–823, Brian B. Borg, Anil Seetharam, Vijay Subramanian, Haseeb Ilias Basha, Mauricio Lisker-Melman, Kevin Korenblat, Christopher D. Anderson, Surendra Shenoy, William C. Chapman, Jeffrey S. Crippin and Thalachallour Mohanakumar

    Article first published online : 27 JUN 2011, DOI: 10.1002/lt.22303

  5. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

    American Journal of Medical Genetics

    Volume 109, Issue 4, 15 May 2002, Pages: 284–290, C. Giunta, L. Nuytinck, M. Raghunath, I. Hausser, A. De Paepe and B. Steinmann

    Article first published online : 11 APR 2002, DOI: 10.1002/ajmg.10373

  6. Range of motion measurements diverge with increasing age for COL5A1 genotypes

    Scandinavian Journal of Medicine & Science in Sports

    Volume 21, Issue 6, December 2011, Pages: e266–e272, J. C. Brown, C.-J. Miller, M. P. Schwellnus and M. Collins

    Article first published online : 1 MAR 2011, DOI: 10.1111/j.1600-0838.2010.01271.x

  7. The COL5A1 genotype is associated with range of motion measurements

    Scandinavian Journal of Medicine & Science in Sports

    Volume 19, Issue 6, December 2009, Pages: 803–810, M. Collins, G. G. Mokone, A. V. September, L. Van Der Merwe and M. P. Schwellnus

    Article first published online : 14 APR 2009, DOI: 10.1111/j.1600-0838.2009.00915.x

  8. Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 2090–2093, Guntram Borck, Peter Beighton, Christian Wilhelm, Jürgen Kohlhase and Christian Kubisch

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.33541

  9. You have free access to this content
    The COL5A1 gene and Achilles tendon pathology

    Scandinavian Journal of Medicine & Science in Sports

    Volume 16, Issue 1, February 2006, Pages: 19–26, G. G. Mokone, M. P. Schwellnus, T. D. Noakes and M. Collins

    Article first published online : 6 JAN 2005, DOI: 10.1111/j.1600-0838.2005.00439.x

  10. Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

    American Journal of Medical Genetics

    Volume 90, Issue 1, 3 January 2000, Pages: 72–79, Cecilia Giunta and Beat Steinmann

    Article first published online : 10 FEB 2000, DOI: 10.1002/(SICI)1096-8628(20000103)90:1<72::AID-AJMG13>3.0.CO;2-C

  11. Gene expression analysis in patients with traumatic anterior shoulder instability suggests deregulation of collagen genes

    Journal of Orthopaedic Research

    Paulo Santoro Belangero, Mariana Ferreira Leal, Eduardo Antônio Figueiredo, Carina Cohen, Alberto de Castro Pochini, Marília Cardoso Smith, Carlos Vicente Andreoli, Sintia Iole Belangero, Benno Ejnisman and Moises Cohen

    Article first published online : 10 JUL 2014, DOI: 10.1002/jor.22680

  12. Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial digital flexor tendinopathy in National Hunt Thoroughbred racehorses

    Equine Veterinary Journal

    Volume 46, Issue 3, May 2014, Pages: 289–293, L. J. Tully, A. M. Murphy, R. K. W. Smith, S. L. Hulin-Curtis, K. L. P. Verheyen and J. S. Price

    Article first published online : 16 SEP 2013, DOI: 10.1111/evj.12134

  13. Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 haplo-insufficient Ehlers–Danlos syndrome

    Journal of Cellular Biochemistry

    Volume 92, Issue 1, 1 May 2004, Pages: 113–124, Richard J. Wenstrup, Jane B. Florer, William G. Cole, Marcia C. Willing and David E. Birk

    Article first published online : 1 APR 2004, DOI: 10.1002/jcb.20024

  14. Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture

    Scandinavian Journal of Medicine & Science in Sports

    Volume 22, Issue 4, August 2012, Pages: 523–533, M. Posthumus, M. Collins, L. van der Merwe, D. O'Cuinneagain, W. van der Merwe, W. J. Ribbans, M. P. Schwellnus and S. M. Raleigh

    Article first published online : 16 MAR 2011, DOI: 10.1111/j.1600-0838.2010.01270.x

  15. 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

    Article first published online : 15 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01858.x

  16. Electrospun aligned PHBV/collagen nanofibers as substrates for nerve tissue engineering

    Biotechnology and Bioengineering

    Volume 110, Issue 10, October 2013, Pages: 2775–2784, Molamma P. Prabhakaran, Elham Vatankhah and Seeram Ramakrishna

    Article first published online : 29 APR 2013, DOI: 10.1002/bit.24937

  17. Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers–Danlos syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 24, 15 December 2008, Pages: 3240–3241, Guy G. Hoffman, Gerald E. Dodson, William G. Cole and Daniel S. Greenspan

    Article first published online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32586

  18. Gene Expression Analysis of Murine and Human Osteoarthritis Synovium Reveals Elevation of Transforming Growth Factor β–Responsive Genes in Osteoarthritis-Related Fibrosis

    Arthritis & Rheumatology

    Volume 66, Issue 3, March 2014, Pages: 647–656, D. F. G. Remst, A. B. Blom, E. L. Vitters, R. A. Bank, W. B. van den Berg, E. N. Blaney Davidson and P. M. van der Kraan

    Article first published online : 25 FEB 2014, DOI: 10.1002/art.38266

  19. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression

    American Journal of Medical Genetics

    Volume 101, Issue 2, 15 June 2001, Pages: 174–177, Joan M. Stoler, Bryann Bromley, Mary Ames Castro, William G. Cole, Jane Florer and Richard J. Wenstrup

    Article first published online : 26 APR 2001, DOI: 10.1002/ajmg.1331

  20. Molecular Genetics of Ehlers–Danlos Syndrome

    Standard Article

    eLS

    Karin Mayer

    Published Online : 15 NOV 2012, DOI: 10.1002/9780470015902.a0024295