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There are 24995 results for: content related to: Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease

  1. You have free access to this content
    Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

    Journal of Bone and Mineral Research

    Volume 25, Issue 2, February 2010, Pages: 247–261, Ethan Daley, Elizabeth A Streeten, John D Sorkin, Natalia Kuznetsova, Sue A Shapses, Stephanie M Carleton, Alan R Shuldiner, Joan C Marini, Charlotte L Phillips, Steven A Goldstein, Sergey Leikin and Daniel J McBride Jr

    Version of Record online : 14 DEC 2009, DOI: 10.1359/jbmr.090720

  2. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 4, December 2015, Pages: 307–313, Melanie G. Pepin and Peter H. Byers

    Version of Record online : 14 NOV 2015, DOI: 10.1002/ajmg.c.31459

  3. You have full text access to this OnlineOpen article
    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

    Journal of Bone and Mineral Research

    Volume 28, Issue 7, July 2013, Pages: 1523–1530, Jay R Shapiro, Caressa Lietman, Monica Grover, James T Lu, Sandesh CS Nagamani, Brian C Dawson, Dustin M Baldridge, Matthew N Bainbridge, Dan H Cohn, Maria Blazo, Timothy T Roberts, Feng-Shu Brennen, Yimei Wu, Richard A Gibbs, Pamela Melvin, Philippe M Campeau and Brendan H Lee

    Version of Record online : 18 JUN 2013, DOI: 10.1002/jbmr.1891

  4. You have free access to this content
    Targeting the LRP5 Pathway Improves Bone Properties in a Mouse Model of Osteogenesis Imperfecta

    Journal of Bone and Mineral Research

    Volume 29, Issue 10, October 2014, Pages: 2297–2306, Christina M Jacobsen, Lauren A Barber, Ugur M Ayturk, Heather J Roberts, Lauren E Deal, Marissa A Schwartz, MaryAnn Weis, David Eyre, David Zurakowski, Alexander G Robling and Matthew L Warman

    Version of Record online : 26 SEP 2014, DOI: 10.1002/jbmr.2198

  5. Validation of a quantitative PCR–high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1697–1707, Filomena Valentina Gentile, Monia Zuntini, Alessandro Parra, Luca Battistelli, Martina Pandolfi, Gerard Pals and Luca Sangiorgi

    Version of Record online : 18 JUL 2012, DOI: 10.1002/humu.22146

  6. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1482–1489, Joshi Stephen, Anju Shukla, Ashwin Dalal, Katta Mohan Girisha, Hitesh Shah, Neerja Gupta, Madhulika Kabra, Preeti Dabadghao and Shubha R. Phadke

    Version of Record online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36481

    Corrected by:

    Errata: Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

    Vol. 167, Issue 11, 2868, Version of Record online: 3 AUG 2015

  7. A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 133–140, R.M. Patel, S.C.S. Nagamani, D. Cuthbertson, P.M. Campeau, J.P. Krischer, J.R. Shapiro, R.D. Steiner, P.A. Smith, M.B. Bober, P.H. Byers, M. Pepin, M. Durigova, F.H. Glorieux, F. Rauch, B.H. Lee, T. Hart and V.R. Sutton

    Version of Record online : 30 MAY 2014, DOI: 10.1111/cge.12409

  8. You have free access to this content
    Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta

    Journal of Bone and Mineral Research

    Volume 25, Issue 6, June 2010, Pages: 1367–1374, Frank Rauch, Liljana Lalic, Peter Roughley and Francis H Glorieux

    Version of Record online : 14 DEC 2009, DOI: 10.1359/jbmr.091109

  9. Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 175–189, Marianne Rohrbach and Cecilia Giunta

    Version of Record online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31334

  10. You have free access to this content
    A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

    Journal of Bone and Mineral Research

    Volume 29, Issue 6, June 2014, Pages: 1402–1411, Charles R Farber, Adi Reich, Aileen M Barnes, Patricia Becerra, Frank Rauch, Wayne A Cabral, Alison Bae, Aaron Quinlan, Francis H Glorieux, Thomas L Clemens and Joan C Marini

    Version of Record online : 19 MAY 2014, DOI: 10.1002/jbmr.2173

  11. Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1681–1687, Oliver Semler, Moira S Cheung, Francis H Glorieux and Frank Rauch

    Version of Record online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33448

  12. A new osteogenesis imperfecta with improvement over time maps to 11q

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1807–1814, Agnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, Georges Finidori, Arnold Munnich, Valérie Cormier-Daire and Martine Le Merrer

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32379

  13. You have free access to this content
    Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect

    Journal of Bone and Mineral Research

    Volume 17, Issue 1, January 2002, Pages: 30–38, Francis H. Glorieux, Leanne M. Ward, Frank Rauch, Ljiljana Lalic, Peter J. Roughley and Rose Travers

    Version of Record online : 1 JAN 2002, DOI: 10.1359/jbmr.2002.17.1.30

  14. Type I Procollagen C-Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1330–1341, Sofie Symoens, David J.S. Hulmes, Jean-Marie Bourhis, Paul J. Coucke, Anne De Paepe and Fransiska Malfait

    Version of Record online : 18 OCT 2014, DOI: 10.1002/humu.22677

  15. You have free access to this content
    A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset

    Journal of Bone and Mineral Research

    Volume 29, Issue 6, June 2014, Pages: 1387–1391, Heike Hoyer-Kuhn, Oliver Semler, Lutz Garbes, Katharina Zimmermann, Jutta Becker, Bernd Wollnik, Eckhard Schoenau and Christian Netzer

    Version of Record online : 19 MAY 2014, DOI: 10.1002/jbmr.2156

  16. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

    Oral Diseases

    B Malmgren, K Andersson, K Lindahl, A Kindmark, G Grigelioniene, V Zachariadis, G Dahllöf and E Åström

    Version of Record online : 13 SEP 2016, DOI: 10.1111/odi.12568

  17. Osteogenesis imperfecta: clinical, biochemical and molecular findings

    Clinical Genetics

    Volume 70, Issue 2, August 2006, Pages: 131–139, G Venturi, E Tedeschi, M Mottes, M Valli, M Camilot, S Viglio, F Antoniazzi and L Tatò

    Version of Record online : 7 JUL 2006, DOI: 10.1111/j.1399-0004.2006.00646.x

  18. Association between bone mineral density and hearing loss in osteogenesis imperfecta

    The Laryngoscope

    Volume 122, Issue 2, February 2012, Pages: 401–408, Freya K. R. Swinnen, Els M. R. De Leenheer, Stefan Goemaere, Cor W. R. J. Cremers, Paul J. Coucke and Ingeborg J. M. Dhooge

    Version of Record online : 17 JAN 2012, DOI: 10.1002/lary.22408

  19. You have free access to this content
    Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

    Journal of Bone and Mineral Research

    Volume 26, Issue 2, February 2011, Pages: 405–413, Moira S Cheung, Heidi Arponen, Peter Roughley, Michel E Azouz, Francis H Glorieux, Janna Waltimo-Sirén and Frank Rauch

    Version of Record online : 20 JAN 2011, DOI: 10.1002/jbmr.220

  20. You have full text access to this OnlineOpen article
    Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1470–1481, F.S. Van Dijk and D.O. Sillence

    Version of Record online : 8 APR 2014, DOI: 10.1002/ajmg.a.36545

    Corrected by:

    Erratum: Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment

    Vol. 167, Issue 5, 1178, Version of Record online: 27 FEB 2015