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There are 7358 results for: content related to: Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  1. 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

    Article first published online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31516

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    Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 292–297, J. Sulko, M. Czarny-Ratajczak, A. Wozniak, A. Latos-Bielenska and K. Kozlowski

    Article first published online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30881

  3. Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

    American Journal of Medical Genetics

    Volume 63, Issue 1, 3 May 1996, Pages: 111–122, I. Kaitila, J. Körkkö, E. Marttinen and L. Ala-Kokko

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960503)63:1<111::AID-AJMG21>3.0.CO;2-Q

  4. 2(1H)-Pyrazinones and 2H-1,4-Oxazin-2-ones and their use in Heterocyclic Synthesis

    Bulletin des Sociétés Chimiques Belges

    Volume 103, Issue 9-10, 1994, Pages: 583–589, Georges Hoornaert

    Article first published online : 1 SEP 2010, DOI: 10.1002/bscb.19941030909

  5. 2(1H)-Pyrazinones and 2H-1,4-Oxazin-2-Ones as Synthetic Tools For Other Heterocycles

    Bulletin des Sociétés Chimiques Belges

    Volume 101, Issue 1, 1992, Pages: 53–59, Georges Hoornaert

    Article first published online : 1 SEP 2010, DOI: 10.1002/bscb.19921010108

  6. 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

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33010

  7. 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

    Article first published online : 28 DEC 2010, DOI: 10.1002/ajmg.a.33762

  8. 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)

  9. The overbasing of detergent additives: The behaviour of promoters and determination of factors controlling the overbasing reaction

    Lubrication Science

    Volume 5, Issue 1, October 1992, Pages: 11–31, C. Belle, R. Gallo, F. Jacquet, P. Hoornaert and J. P. Roman

    Article first published online : 30 MAR 2006, DOI: 10.1002/ls.3010050103

  10. 1,2,4-Triazine vs. 1,3- and 1,4-Oxazinones in Normal- and Inverse-Electron-Demand Hetero-Diels–Alder Reactions: Establishing a Status Quo by Computational Analysis

    European Journal of Organic Chemistry

    Volume 2011, Issue 5, February 2011, Pages: 983–992, Parham Rooshenas, Kira Hof, Peter R. Schreiner and Craig M. Williams

    Article first published online : 22 DEC 2010, DOI: 10.1002/ejoc.201001365

  11. 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

    Article first published online : 11 APR 2012, DOI: 10.1002/ajmg.a.35303

  12. 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

    Article first published online : 18 FEB 2011, DOI: 10.1111/j.1440-1754.2010.01979.x

  13. 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

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32389

  14. Spondylometepiphyseal dysplasia, strudwick type

    American Journal of Medical Genetics

    Volume 13, Issue 3, November 1982, Pages: 243–256, Dr. C. E. Anderson, D. O. Sillence, R. S. Lachman, K. Toomey, M. Bull, J. Dorst, D. L. Rimoin and John M. Opitz

    Article first published online : 2 JUN 2005, DOI: 10.1002/ajmg.1320130304

  15. 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

    Article first published online : 13 MAY 2005, DOI: 10.1002/humu.20179

  16. Severe neonatal spondylometaphyseal dysplasia in two siblings

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2166–2172, Malwina Czarny-Ratajczak, Krystyna Chrzanowska, Tadeusz Bieganski, Jerzy Sulko, Dobromila Baranska, Beata Kocyla-Karczmarewicz, Lukasz Kuszel, Lucjusz Jakubowski, Kryspin Niedzielski and Kazimierz Kozlowski

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33016

  17. Interpretation

    A Companion to Ancient Egyptian Art

    Melinda K. Hartwig, Pages: 483–503, 2014

    Published Online : 28 NOV 2014, DOI: 10.1002/9781118325070.ch25

  18. 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

    Article first published online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35793

  19. Blood Concentration of Thyrotropic Hormone in Normal Subjects and in Patients with Thyroid Disease

    Ciba Foundation Symposium - Human Pituitary Hormones (Colloquia on Endocrinology), Volume 13

    G. E. W. Wolstenholme, Cecilia M. O'Connor, Pages: 275–321, 2008

    Published Online : 30 MAY 2008, DOI: 10.1002/9780470719183.ch17

  20. Phylogenetic investigation and divergence dating of Poa (Poaceae, tribe Poeae) in the Australasian region

    Botanical Journal of the Linnean Society

    Volume 175, Issue 4, August 2014, Pages: 523–552, Joanne L. Birch, David J. Cantrill, Neville G. Walsh and Daniel J. Murphy

    Article first published online : 18 JUL 2014, DOI: 10.1111/boj.12185