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There are 21868 results for: content related to: Ultrastructural Changes of Cochlea in Mice with Hereditary Chondrodysplasia (cho/cho)

  1. 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

    Article first published online : 16 APR 2014, DOI: 10.1002/dvdy.24131

  2. 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

    Article first published online : 28 JUN 2012, DOI: 10.1111/j.1365-2052.2011.02304.x

  3. A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A

    Arthritis & Rheumatology

    Volume 66, Issue S3, March 2014, Pages: S224–S225, Edward J. Oberle, James W. Verbsky, John Routes, Mary Hintermeyer, Elizabeth Worthey, Trivikram Dasu, Christine Bengtson and Alyssa Buzzell

    Article first published online : 27 MAR 2014, DOI: 10.1002/art.38598

  4. 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

  5. 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)

  6. 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

    Article first published online : 10 MAR 2008, DOI: 10.1111/j.1751-0813.1998.tb10129.x

  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

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320430514

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

    Clinical Genetics

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

    Article first published 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

    Article first published online : 23 OCT 2009, DOI: 10.1002/uog.7452

  10. 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

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320220205

  11. 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

    Article first published online : 27 JAN 2003, DOI: 10.1002/ajmg.a.20009

  12. 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.

    Article first published online : 27 AUG 2002, DOI: 10.1002/ajmg.10780

  13. 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

    Article first published online : 20 JAN 2009, DOI: 10.1002/pd.2167

  14. You have free access to this content
    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

    Article first published 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

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32159

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    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

    Article first published online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32554

  17. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia

    American Journal of Medical Genetics

    Volume 111, Issue 1, 22 July 2002, Pages: 31–37, Muhammad Faiyaz-Ul-Haque, Wasim Ahmad, Abdul Wahab, Sayedul Haque, Anser C. Azim, Syed H.E. Zaidi, Ahmad S. Teebi, Mahmud Ahmad, Daniel H. Cohn, Teepu Siddique and Lap-Chee Tsui

    Article first published online : 16 MAY 2002, DOI: 10.1002/ajmg.10501

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    Prenatal findings in chondrodysplasia punctata, tibia—metacarpal type

    Ultrasound in Obstetrics & Gynecology

    Volume 8, Issue 5, 1 November 1996, Pages: 350–354, K. Mayden Argo, H. V. Toriello, R. D. Jelsema and L. J. Zuidema

    Article first published online : 22 JAN 2003, DOI: 10.1046/j.1469-0705.1996.08050350.x

  19. Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

    Clinical Genetics

    Volume 17, Issue 2, February 1980, Pages: 97–107, H. Manzke, E. Christophers and H.-R. Wiedemann

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1980.tb00115.x

  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

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