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There are 9064 results for: content related to: Chapter 90. Chondrodysplasias

  1. 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)

  2. Skeletal Dysplasias, Chondrodysplasias: General Concepts and Diagnostic and Management Considerations

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

    William A. Horton, Jacqueline T. Hecht, Pages: 901–908, 2003

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

  3. Molecular defects in the chondrodysplasias

    American Journal of Medical Genetics

    Volume 63, Issue 1, 3 May 1996, Pages: 106–110, David L. Rimoin

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R

  4. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26

  5. In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep

    Animal Genetics

    Volume 43, Issue s1, July 2012, Pages: 9–18, X. Zhao, S. K. Onteru, S. Piripi, K. G. Thompson, H. T. Blair, D. J. Garrick and M. F. Rothschild

    Version of Record online : 28 JUN 2012, DOI: 10.1111/j.1365-2052.2011.02304.x

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    Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia

    Developmental Dynamics

    Volume 243, Issue 7, July 2014, Pages: 875–893, Sara E. Patterson and Caroline N. Dealy

    Version of Record online : 16 APR 2014, DOI: 10.1002/dvdy.24131

  7. Two lethal chondrodysplasias with giant chondrocytes

    American Journal of Medical Genetics

    Volume 15, Issue 4, August 1983, Pages: 615–625, Dr. S. S. Yang, J. Roskamp, C. T. Liu, R. Frates, D. B. Singer and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320150411

  8. Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

    American Journal of Medical Genetics

    Volume 21, Issue 3, July 1985, Pages: 581–589, Dr. Alasdair G. W. Hunter, David L. Rimoin, Ulrike M. Koch, G. June MacDonald, David M. Cox, Ralph S. Lachman, Gerald Adomian, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320210320

  9. Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

    American Journal of Medical Genetics

    Volume 85, Issue 1, 2 July 1999, Pages: 38–47, Millan S. Patel, John W. Callahan, Sunqu Zhang, Alicia K.J. Chan, Sheila Unger, Alex V. Levin, Marie-Anne Skomorowski, Annette S. Feigenbaum, Karel O'Brien, Jonathan Hellmann, Greg Ryan, Lea Velsher and David Chitayat

    Version of Record online : 20 MAY 1999, DOI: 10.1002/(SICI)1096-8628(19990702)85:1<38::AID-AJMG8>3.0.CO;2-3

  10. A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia

    American Journal of Medical Genetics

    Volume 25, Issue 1, September 1986, Pages: 47–59, Z. Borochowitz, K. L. Jones, R. Silbey, G. Adomian, R. Lachman, D. L. Rimoin, John M. Opitz and James F. Reynolds

    Version of Record online : 4 JUN 2005, DOI: 10.1002/ajmg.1320250107

  11. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations

    American Journal of Medical Genetics

    Volume 63, Issue 1, 3 May 1996, Pages: 144–147, Andrea Superti-Furga, Antonio Rossi, Beat Steinmann and Richard Gitzelmann

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N

  12. Tissue and cell studies of the growth plate in the chondrodysplasias

    American Journal of Medical Genetics

    Volume 34, Issue 1, September 1989, Pages: 91–95, William A. Horton, Diana Campbell, Mirta A. Machado, Amy L. Aulthouse, Saira Ahmed and Jeffrey T. Ellard

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320340116

  13. Some chondrodysplasias with short limbs: Molecular perspectives

    American Journal of Medical Genetics

    Volume 112, Issue 3, 15 October 2002, Pages: 304–313, M. Michael Cohen , Jr.

    Version of Record online : 27 AUG 2002, DOI: 10.1002/ajmg.10780

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    X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 307–312, Nicolas Chassaing, Virginie Siani, Dominique Carles, Anne Lise Delezoide, Eve Marie Alberti, Jacques Battin, Jean François Chateil, Brigitte Gilbert-Dussardier, Isabelle Coupry, Benoit Arveiler, Robert Saura and Didier Lacombe

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30570

  15. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 997–1008, Michelle Nino, Claudia Matos-Miranda, Momoe Maeda, Li Chen, Judith Allanson, Christine Armour, Carol Greene, Majeeda Kamaluddeen, Debra Rita, Livija Medne, Elaine Zackai, Sahar Mansour, Andrea Superti-Furga, Amy Lewanda, Michael Bober, Kenneth Rosenbaum and Nancy Braverman

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32159

  16. Chondrodysplasia Punctata with Myopathic Involvement

    Congenital Anomalies

    Volume 29, Issue 1, March 1989, Pages: 1–6, Hiroshi NOGAMI, Takashi OKI, Yoshihito ISHIDA, Shunji MURACHI and Kazuhito IYODA

    Version of Record online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1989.tb00730.x

  17. Skeletal Dysplasias Related to Defects in Sulfate Metabolism

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

    Peter M. Royce, Beat Steinmann, Pages: 939–960, 2003

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

  18. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 287–295, J. Spranger, B.D. Hall, B. Häne, A. Srivastava and R. E. Stevenson

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<287::AID-AJMG5>3.0.CO;2-G

  19. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 241–248, Outi Mäkitie, Miki Susic, Leanne Ward, Catherine Barclay, Francis H. Glorieux and William G. Cole

    Version of Record online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30855

  20. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 250–255, S. Kumada, M. Hayashi, J. Kenmochi, S. Kurosawa, N. Shimozawa, Lisa E. Kratz, Richard I. Kelley, K. Taki and M. Okaniwa

    Version of Record online : 11 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<250::AID-AJMG1087>3.0.CO;2-Y