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There are 11521 results for: content related to: Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

  1. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

    Human Mutation

    Volume 19, Issue 5, May 2002, Pages: 465–478, Michael D. Briggs and Kathryn L. Chapman

    Version of Record online : 10 APR 2002, DOI: 10.1002/humu.10066

  2. Skeletal Dysplasias, Chondrodysplasias: Disorders of Cartilage Matrix Proteins

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

    William A. Horton, Jacqueline T. Hecht, Pages: 909–937, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch23(ii)

  3. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia

    American Journal of Medical Genetics

    Volume 104, Issue 2, 22 November 2001, Pages: 135–139, Akihiko Mabuchi, Nobuhiko Haga, Toshiyuki Ikeda, Noriyo Manabe, Hirofumi Ohashi, Yoshio Takatori, Kozo Nakamura and Shiro Ikegawa

    Version of Record online : 8 OCT 2001, DOI: 10.1002/ajmg.10067

  4. You have full text access to this OnlineOpen article
    A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 218–231, Farhana Suleman, Benedetta Gualeni, Hannah J. Gregson, Matthew P. Leighton, Katarzyna A. Piróg, Sarah Edwards, Paul Holden, Raymond P. Boot-Handford and Michael D. Briggs

    Version of Record online : 17 NOV 2011, DOI: 10.1002/humu.21631

  5. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 35–38, Akihiko Mabuchi, Shigeki Momohara, Hirofumi Ohashi, Yoshio Takatori, Nobuhiko Haga, Gen Nishimura and Shiro Ikegawa

    Version of Record online : 7 JUN 2004, DOI: 10.1002/ajmg.a.30164

  6. Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

    American Journal of Medical Genetics

    Volume 85, Issue 5, 27 August 1999, Pages: 486–490, Michelle Deere, Tiffany Sanford, Clair A. Francomano, Karla Daniels and Jacqueline T. Hecht

    Version of Record online : 14 JUL 1999, DOI: 10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O

  7. You have full text access to this OnlineOpen article
    Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 863–869, Gail C. Jackson, Dominique Marcus-Soekarman, Irene Stolte-Dijkstra, Aad Verrips, Jacqueline A. Taylor and Michael D. Briggs

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33240

  8. You have free access to this content
    Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate

    Journal of Orthopaedic Research

    Volume 22, Issue 4, July 2004, Pages: 759–767, Jacqueline T. Hecht, Outi Makitie, Elizabeth Hayes, Richard Haynes, Miki Susic, Dina Montufar-Solis, P. Jackie Duke and William G. Cole

    Version of Record online : 1 JAN 2006, DOI: 10.1016/j.orthres.2003.11.010

  9. Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia

    Annals of the New York Academy of Sciences

    Volume 785, Issue 1, June 1996, Pages: 188–194, Daniel H. Cohn, Michael D. Briggs, Lily M. King, David L. Rimoin, William R. Wilcox, Ralph S. Lachman and Robert G. Knowlton

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1749-6632.1996.tb56258.x

  10. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

    American Journal of Medical Genetics

    Volume 104, Issue 2, 22 November 2001, Pages: 140–146, Sheila Unger, Jarmo Korkko, Deborah Krakow, Ralph S. Lachman, David L. Rimoin and Daniel H. Cohn

    Version of Record online : 27 SEP 2001, DOI: 10.1002/ajmg.10062

  11. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein

    Clinical Genetics

    Volume 51, Issue 4, April 1997, Pages: 219–224, Slavovic Susie, Joel McGrory, Janet Ahier and William G. Cole

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02458.x

  12. You have free access to this content
    Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group

    Human Mutation

    Volume 25, Issue 6, June 2005, Pages: 593–594, Jason Kennedy, Gail C. Jackson, Faye S. Barker, Seema Nundlall, Jordi Bella, Michael J. Wright, Geert R. Mortier, Katherine Neas, Elizabeth Thompson, Rob Elles and Michael D. Briggs

    Version of Record online : 6 MAY 2005, DOI: 10.1002/humu.9342

  13. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

    American Journal of Medical Genetics

    Volume 106, Issue 4, Winter 2001, Pages: 244–250, Sheila Unger and Jacqueline T. Hecht

    Version of Record online : 25 JAN 2002, DOI: 10.1002/ajmg.10234

  14. Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 933–938, Ángel Campos-Barros, Sara Benito-Sanz, Judith L. Ross, Andrew R. Zinn and Karen E. Heath

    Version of Record online : 29 MAR 2007, DOI: 10.1002/ajmg.a.31676

  15. Pseudoachondroplasia and painful sequelae

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2618–2622, Candace Gamble, Joanne Nguyen, S. Shahrukh Hashmi and Jacqueline T. Hecht

    Version of Record online : 14 JUL 2015, DOI: 10.1002/ajmg.a.37253

  16. Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]

    American Journal of Medical Genetics

    Volume 77, Issue 5, 5 June 1998, Pages: 356–359, Shiro Ikegawa, Hirofumi Ohashi, Fumie Hosoda, Yoshimitsu Fukushima, Misao Ohki and Yusuke Nakamura

    Version of Record online : 6 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980605)77:5<356::AID-AJMG3>3.0.CO;2-L

  17. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia

    American Journal of Medical Genetics

    Volume 80, Issue 5, 28 December 1998, Pages: 510–513, Michelle Deere, Tiffany Sanford, Heather L. Ferguson, Karla Daniels and Jacqueline T. Hecht

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19981228)80:5<510::AID-AJMG14>3.0.CO;2-F

  18. You have free access to this content
    Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

    Human Mutation

    Volume 11, Issue S1, 1998, Pages: S10–S17, John Loughlin, Catherine Irven, Zehra Mustafa, Michael D. Briggs, Andrew Carr, Sally-Ann Lynch, Robert G. Knowlton, Daniel H. Cohn and Bryan Sykes

    Version of Record online : 28 APR 2011, DOI: 10.1002/humu.1380110105

  19. You have free access to this content
    Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype

    Journal of Orthopaedic Research

    Volume 24, Issue 4, April 2006, Pages: 700–707, Thomas M. Merritt, Joseph L. Alcorn, Richard Haynes and Jacqueline T. Hecht

    Version of Record online : 2 MAR 2006, DOI: 10.1002/jor.20100

  20. MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures

    Journal of Cellular Physiology

    Volume 224, Issue 3, September 2010, Pages: 817–826, J. Roman-Blas, A.S. Dion, M.R. Seghatoleslami, K. Giunta, P. Oca, S.A. Jimenez and C.J. Williams

    Version of Record online : 21 MAY 2010, DOI: 10.1002/jcp.22185