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There are 15718 results for: content related to: Ultrastructural Changes of Cochlea in Mice with Hereditary Chondrodysplasia (cho/cho)

  1. 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

  2. You have free access to this content
    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

  3. Chondrodysplasia in Australian Dexter cattle

    Australian Veterinary Journal

    Volume 76, Issue 3, March 1998, Pages: 199–202, PAW HARPER, MR LATTER, FW NICHOLAS, RW COOK and PA GILL

    Version of Record online : 10 MAR 2008, DOI: 10.1111/j.1751-0813.1998.tb10129.x

  4. 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)

  5. 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

  6. 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

  7. Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

    American Journal of Medical Genetics

    Volume 43, Issue 5, 15 July 1992, Pages: 823–828, Eric A. Wulfsberg, Jerri Curtis and Carol H. Jayne

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320430514

  8. Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

    Clinical Genetics

    Volume 38, Issue 2, August 1990, Pages: 84–93, T. D. Wardinsky, R. A. Pagon, B. R. Powell, B. McGillivray, M. Stephan, J. Zonana and A. Moser

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03554.x

  9. Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

    Clinical Genetics

    Volume 19, Issue 1, January 1981, Pages: 64–66, Rudolf Happle

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1981.tb00669.x

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    Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

    Ultrasound in Obstetrics & Gynecology

    Volume 34, Issue 6, December 2009, Pages: 724–726, A. Benaicha, M. Dommergues, J. M. Jouannic, A. Jacquette, M. Alexandre, M. Le Merrer, H. Ducou Le Pointe and C. Garel

    Version of Record online : 23 OCT 2009, DOI: 10.1002/uog.7452

  11. 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

  12. Lethal neonatal chondrodysplasias in the west of scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant

    American Journal of Medical Genetics

    Volume 22, Issue 2, October 1985, Pages: 243–253, Dr. J. M. Connor, R. A. C. Connor, E. M. Sweet, A. A. M. Gibson, W. J. A. Patrick, M. B. McNay, D. H. A. Redford, John M. Opitz and James F. Reynolds

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.1320220205

  13. Natural history of rhizomelic chondrodysplasia punctata

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 332–342, Amy L. White, Peggy Modaff, Francesca Holland-Morris and Richard M. Pauli

    Version of Record online : 27 JAN 2003, DOI: 10.1002/ajmg.a.20009

  14. 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

  15. Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

    Prenatal Diagnosis

    Volume 29, Issue 2, February 2009, Pages: 140–150, J. M. Levaillant, D. Moeglin, K. Zouiten, M. Bucourt, L. Burglen, V. Soupre, C. Baumann, M. L. Jaquemont, R. Touraine, A. Picard, E. Vuillard, N. Belarbi, J. F. Oury, A. Verloes, M. P. Vazquez, P. Labrune, A. L. Delezoide and M. Gérard-Blanluet

    Version of Record online : 20 JAN 2009, DOI: 10.1002/pd.2167

  16. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 1, 1 July 2003, Pages: 97–104, Marja W. Wessels, Nicolette J. Den Hollander, Ronald R. De Krijger, Peter G.J. Nikkels, Helen Brandenburg, Raoul Hennekam and Patrick J. Willems

    Version of Record online : 29 APR 2003, DOI: 10.1002/ajmg.a.20202

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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

  18. 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

  19. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia

    Human Mutation

    Volume 25, Issue 6, June 2005, Pages: 525–534, John F. Bateman, Richard Wilson, Susanna Freddi, Shireen R. Lamandé and Ravi Savarirayan

    Version of Record online : 6 MAY 2005, DOI: 10.1002/humu.20183

  20. Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3038–3053, David Chitayat, Sarah Keating, Dina J. Zand, Teresa Costa, Elaine H. Zackai, Earl Silverman, George Tiller, Sheila Unger, Stephen Miller, John Kingdom, Ants Toi and Cynthia J.R. Curry

    Version of Record online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32554