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There are 12592 results for: content related to: Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  1. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 461–475, Paulien A. Terhal, Rutger Jan A. J. Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen E. H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton-Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra-Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa M. Lees, Louise C. Wilson, Alison Male, Jane Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M. H. F. Bongers, Valerie Cormier-Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder-Espinasse, Nicolette den Hollander, Tessa Homfray, Hanne D. Hove, Susan Price, Annick Raas-Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine V. Knoers, Paul Coucke and Geert R. Mortier

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36922

  2. 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

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36954

  3. COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 161–167, Kerstin Walter, Mojca Tansek, Edward S. Tobias, Shiro Ikegawa, Paul Coucke, James Hyland, Geert Mortier, Tsutomu Iwaya, Gen Nishimura, Andrea Superti-Furga and Sheila Unger

    Version of Record online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31516

  4. Czech dysplasia occurring in a Japanese family

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2285–2289, Yoshito Matsui, Toshimi Michigami, Kanako Tachikawa, Miwa Yamazaki, Hidehiko Kawabata and Gen Nishimura

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33010

  5. Czech dysplasia: Report of a large family and further delineation of the phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1859–1864, Andreas Tzschach, Sigrid Tinschert, Elke Kaminsky, Eugen Lusga, Stefan Mundlos and Luitgard M. Graul-Neumann

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32389

  6. You have free access to this content
    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

    Version of Record online : 23 JAN 2012, DOI: 10.1002/jbmr.547

  7. Somatic mosaicism and the phenotypic expression of COL2A1 mutations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1204–1207, Sonali Nagendran, Allan J. Richards, Annie McNinch, Richard N. Sandford and Martin P. Snead

    Version of Record online : 11 APR 2012, DOI: 10.1002/ajmg.a.35303

  8. Clinical phenotypes associated with type II collagen mutations

    Journal of Paediatrics and Child Health

    Volume 48, Issue 2, February 2012, Pages: E38–E43, Peter Kannu, John Bateman and Ravi Savarirayan

    Version of Record online : 18 FEB 2011, DOI: 10.1111/j.1440-1754.2010.01979.x

  9. A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 918–920, Brian H.Y. Chung, Ho-ming Luk, Ivan F.M. Lo, Stephen T.S. Lam and Raymond H.W. Li

    Version of Record online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35793

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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

    Version of Record online : 21 OCT 2015, DOI: 10.1002/humu.22915

  11. The phenotypic spectrum of COL2A1 mutations

    Human Mutation

    Volume 26, Issue 1, July 2005, Pages: 36–43, Gen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, Yoko Tanaka, Toru Sonoda, Miho Kitamura, Shuya Shirahama, Taichi Itoh, Eiji Nakashima, Hirofumi Ohashi and Shiro Ikegawa

    Version of Record online : 13 MAY 2005, DOI: 10.1002/humu.20179

  12. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1948–1952, Julie Désir, Marie Cassart, Catherine Donner, Paul Coucke, Marc Abramowicz and Geert Mortier

    Version of Record online : 11 APR 2012, DOI: 10.1002/ajmg.a.35301

  13. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

    Human Mutation

    Volume 27, Issue 7, July 2006, Pages: 696–704, Allan J. Richards, Maureen Laidlaw, Joanne Whittaker, Becky Treacy, Harjeet Rai, Philip Bearcroft, David M. Baguley, Arabella Poulson, Alan Ang, John D. Scott and Martin P. Snead

    Version of Record online : 2 JUN 2006, DOI: 10.1002/humu.20347

  14. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 3, 1 February 2007, Pages: 258–264, Marja Majava, Kristien P. Hoornaert, Deborah Bartholdi, Mieke C. Bouma, Katelijne Bouman, Marta Carrera, Koenraad Devriendt, Jane Hurst, George Kitsos, Dunja Niedrist, Michael B. Petersen, Debbie Shears, Irene Stolte-Dijkstra, J.M. Van Hagen, Leena Ala-Kokko, Minna Männikkö and Geert R. Mortier

    Version of Record online : 18 JAN 2007, DOI: 10.1002/ajmg.a.31586

  15. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 496–498, E. Tham, G. Nishimura, S. Geiberger, E. Horemuzova, D. Nilsson, A. Lindstrand, A. Hammarsjö, M. Armenio, O. Mäkitie, B. Zabel, A. Nordgren, M. Nordenskjöld and G. Grigelioniene

    Version of Record online : 8 SEP 2014, DOI: 10.1111/cge.12466

  16. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

    American Journal of Medical Genetics

    Volume 92, Issue 2, 15 May 2000, Pages: 95–100, Jarmo Körkkö, Daniel H. Cohn, Leena Ala-Kokko, Deborah Krakow and Darwin J. Prockop

    Version of Record online : 25 APR 2000, DOI: 10.1002/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9

  17. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 174–179, Paul R. Mark, Wilfredo Torres-Martinez, Ralph S. Lachman and David D. Weaver

    Version of Record online : 28 DEC 2010, DOI: 10.1002/ajmg.a.33762

  18. 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)

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    Clinical Correlations of Osteoarthritis Associated with a Single-Base Mutation (Arginine519 to Cysteine) in Type II Procollagen Gene

    Arthritis & Rheumatism

    Volume 37, Issue 2, February 1994, Pages: 264–269, Yvonne L. Pun, Roland W. Moskowitz, Sutek Lie, Walter R. Sundstrom, Sidney R. Block, Currier Mcewen, H. James Williams, Jane F. Bleasel, Daniel Holderbaum and Tariq M. Haqqi

    Version of Record online : 9 DEC 2005, DOI: 10.1002/art.1780370216

  20. Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

    Human Mutation

    Volume 12, Issue 3, 1998, Pages: 172–176, Jane F. Bleasel, Daniel Holderbaum, Valeria Brancolini, Roland W. Moskowitz, Eileen L. Considine, Darwin J. Prockop, Marcella Devoto and Charlene J. Williams

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J