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There are 2031 results for: content related to: No skeletal dysplasia in the nariokotome boy KNM-WT 15000 ( homo erectus )—A reassessment of congenital pathologies of the vertebral column

  1. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75 [RIGHTWARDS ARROW] cysteine mutation in the procollagen type ii gene in a kindred of chiloe islanders.

    Arthritis & Rheumatism

    Volume 37, Issue 7, July 1994, Pages: 1078–1086, Antonio J. Reginato, Gian M. Passano, Guillermo Neumann, Gerald F. Falasca, Marcelo Diaz-Valdez, Sergio A. Jimenez and Charlene J. Williams

    Article first published online : 9 DEC 2005, DOI: 10.1002/art.1780370714

  2. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families

    Human Mutation

    Volume 24, Issue 1, July 2004, Page: 103, Jörg Fiedler, Martine Le Merrer, Geert Mortier, Solange Heuertz, Laurence Faivre and Rolf E. Brenner

    Article first published online : 4 JUN 2004, DOI: 10.1002/humu.9254

  3. X-linked spondyloepiphyseal dysplasia tarda: A novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 1, 15 February 2004, Pages: 45–48, Udy Bar-Yosef, Eric Ohana, Eli Hershkovitz, Sarit Perlmuter, Rivka Ofir and Ohad S. Birk

    Article first published online : 25 JUL 2003, DOI: 10.1002/ajmg.a.20435

  4. Mental retardation and seizure disorder in Schimke immunoosseous dysplasia

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 294–298, Solveig Sigurdardottir, Scott M. Myers, James M. Woodworth and Gerald V. Raymond

    Article first published online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<294::AID-AJMG6>3.0.CO;2-5

  5. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 894–901, Karina C. Silveira, Luciana C. Bonadia, Andrea Superti-Furga, Débora R. Bertola, Alexander A.L. Jorge and Denise P. Cavalcanti

    Article first published online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36954

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    A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation

    Journal of Bone and Mineral Research

    Volume 27, Issue 2, February 2012, Pages: 413–428, Christopher T Esapa, Tertius A Hough, Sarah Testori, Rosie A Head, Elizabeth A Crane, Carol PS Chan, Holly Evans, JH Duncan Bassett, Przemko Tylzanowski, Eugene G McNally, Andrew J Carr, Alan Boyde, Peter GT Howell, Anne Clark, Graham R Williams, Matthew A Brown, Peter I Croucher, M Andrew Nesbit, Steve DM Brown, Roger D Cox, Michael T Cheeseman and Rajesh V Thakker

    Article first published online : 23 JAN 2012, DOI: 10.1002/jbmr.547

  7. mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia

    American Journal of Medical Genetics

    Volume 100, Issue 3, 1 May 2001, Pages: 219–222, Neil Howell, Iwona Kubacka, Barbara McDonough, Arthur B. Hodess and Donald H. Harter

    Article first published online : 9 APR 2001, DOI: 10.1002/ajmg.1264

  8. Respiratory complications in children with spondyloepiphyseal dysplasia congenita

    Pediatric Pulmonology

    Volume 9, Issue 1, 1990, Pages: 49–54, Cary O. Harding, Christopher G. Green, William H. Perloff and Richard M. Pauli

    Article first published online : 18 NOV 2005, DOI: 10.1002/ppul.1950090112

  9. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 1, 15 February 2004, Pages: 49–56, J.G. Leroy, B.P. Leroy, L.V. Emmery, L. Messiaen and J.W. Spranger

    Article first published online : 30 JUL 2003, DOI: 10.1002/ajmg.a.20419

  10. Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height

    Clinical Genetics

    Volume 44, Issue 3, September 1993, Pages: 152–155, E. Legius, M. Mulier, B. van Damme and J. P. Fryns

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1993.tb03868.x

  11. The natural histories of bone dysplasias in adults—Vignettes, fables and just-so stories

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

    Volume 145C, Issue 3, 15 August 2007, Pages: 309–321, Richard M. Pauli

    Article first published online : 18 JUL 2007, DOI: 10.1002/ajmg.c.30135

  12. Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family

    American Journal of Medical Genetics

    Volume 99, Issue 4, 1 April 2001, Pages: 328–330, Yoshito Matsui, Natsuo Yasui, Keiichi Ozono, Masayo Yamagata, Hidehiko Kawabata and Hideki Yoshikawa

    Article first published online : 26 FEB 2001, DOI: 10.1002/ajmg.1179

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    Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 7–15, Mouna Barat-Houari, Guillaume Sarrabay, Vincent Gatinois, Aurélie Fabre, Bruno Dumont, David Genevieve and Isabelle Touitou

    Article first published online : 21 OCT 2015, DOI: 10.1002/humu.22915

  14. 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)

  15. Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis

    Human Mutation

    Volume 29, Issue 6, June 2008, Pages: 841–851, Vera Hintze, Andrzej Steplewski, Hidetoshi Ito, Deborah A. Jensen, Ulrich Rodeck and Andrzej Fertala

    Article first published online : 27 MAR 2008, DOI: 10.1002/humu.20736

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    Spondyloepiphyseal dysplasia congenital


    Volume 46, Issue 8, August 1991, Pages: 648–650, G. E. RODNEY, C. C. CALLANDER and M. HARMER

    Article first published online : 22 FEB 2007, DOI: 10.1111/j.1365-2044.1991.tb09714.x

  17. Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

    Prenatal Diagnosis

    Volume 23, Issue 10, October 2003, Pages: 861–863, Paul A. James, Janet Shaw, Desiree du Sart, Ellen Craig, John F. Bateman and Ravi Savarirayan

    Article first published online : 1 OCT 2003, DOI: 10.1002/pd.692

  18. Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia—a report of six pregnancies

    Prenatal Diagnosis

    Volume 26, Issue 9, September 2006, Pages: 861–865, Lyn S. Chitty, Aileen W. C. Tan, Debbie L. Nesbit, Christine M. Hall and Charles H. Rodeck

    Article first published online : 28 JUL 2006, DOI: 10.1002/pd.1525

  19. Diagnosis of Atlantoaxial Subluxation in Morquio's Syndrome and Spondyloepiphyseal Dysplasia Congenita

    Pediatrics International

    Volume 33, Issue 5, October 1991, Pages: 633–638, Eiji Takeda, Toshiaki Hashimoto, Masanobu Tayama, Masahito Miyazaki, Etsuhisa Shirakawa, Yoshiro Shiino, Takahiko Saijo, Michinori Ito, Etsuo Naito, A.H.M. Mahbubul Huq and Yasuhiro Kuroda

    Article first published online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1991.tb01877.x

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    MRI findings in Dyggve-Melchior-Clausen syndrome, a rare spondyloepiphyseal dysplasia

    Journal of Magnetic Resonance Imaging

    Volume 22, Issue 4, October 2005, Pages: 572–576, Pedro Gutiérrez Carbonell, Pedro Doménech Fernández and Javier Roca Vicente-Franqueira

    Article first published online : 13 SEP 2005, DOI: 10.1002/jmri.20414