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There are 1700830 results for: content related to: Mutations in SERPINF1 cause osteogenesis imperfecta type VI

  1. 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

  2. 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

  3. A co-occurrence of osteogenesis imperfecta type VI and cystinosis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1422–1426, Tracy Tucker, Tanya Nelson, Sandra Sirrs, Peter Roughley, Francis H. Glorieux, Pierre Moffatt, Kamilla Schlade-Bartusiak, Lindsay Brown and Frank Rauch

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35319

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    A new culprit in osteogenesis imperfecta

    Journal of Bone and Mineral Research

    Volume 26, Issue 12, December 2011, Pages: 2795–2797, Emily L Germain-Lee

    Version of Record online : 21 NOV 2011, DOI: 10.1002/jbmr.540

  5. Pharmacological and biological therapeutic strategies for osteogenesis imperfecta

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

    Volume 172, Issue 4, December 2016, Pages: 367–383, Ronit Marom, Yi-Chien Lee, Ingo Grafe and Brendan Lee

    Version of Record online : 3 NOV 2016, DOI: 10.1002/ajmg.c.31532

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    Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

    Journal of Bone and Mineral Research

    Volume 27, Issue 3, March 2012, Pages: 723–728, Giacomo Venturi, Alberto Gandini, Elena Monti, Luca Dalle Carbonare, Massimiliano Corradi, Monica Vincenzi, Maria Teresa Valenti, Maurizia Valli, Enrico Pelilli, Attilio Boner, Monica Mottes and Franco Antoniazzi

    Version of Record online : 21 FEB 2012, DOI: 10.1002/jbmr.1480

  7. You have free access to this content
    A Mouse Model for Human Osteogenesis Imperfecta Type VI

    Journal of Bone and Mineral Research

    Volume 28, Issue 7, July 2013, Pages: 1531–1536, Rosalind Bogan, Ryan C Riddle, Zhu Li, Sarvesh Kumar, Anjali Nandal, Marie-Claude Faugere, Adele Boskey, Susan E Crawford and Thomas L Clemens

    Version of Record online : 18 JUN 2013, DOI: 10.1002/jbmr.1892

  8. You have full text access to this OnlineOpen article
    Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

    Molecular Genetics & Genomic Medicine

    Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait and Paul J. Coucke

    Version of Record online : 18 NOV 2017, DOI: 10.1002/mgg3.331

  9. 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

  10. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1354–1369, José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy and Mona Aglan

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35938

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    Osteogenesis Imperfecta, an Ever-Expanding Conundrum

    Journal of Bone and Mineral Research

    Volume 28, Issue 7, July 2013, Pages: 1519–1522, Francis H Glorieux and Pierre Moffatt

    Version of Record online : 18 JUN 2013, DOI: 10.1002/jbmr.1982

  12. 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

  13. Diaphyseal Femur Fractures in Osteogenesis Imperfecta: Characteristics and Relationship With Bisphosphonate Treatment

    Journal of Bone and Mineral Research

    Volume 32, Issue 5, May 2017, Pages: 1034–1039, Pamela Trejo, François Fassier, Francis H Glorieux and Frank Rauch

    Version of Record online : 28 FEB 2017, DOI: 10.1002/jbmr.3071

  14. 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

  15. You have free access to this content
    Sonographically Guided Obturator Internus Injections

    Journal of Ultrasound in Medicine

    Volume 31, Issue 10, October 2012, Pages: 1597–1608, Jay Smith, Steve J. Wisniewski, Michael K. Wempe, Bradford W. Landry and Jacob L. Sellon

    Version of Record online : 1 OCT 2012, DOI: 10.7863/jum.2012.31.10.1597

  16. Where there is light, there is dark: A review of the detrimental outcomes of high organizational identification

    Journal of Organizational Behavior

    Volume 38, Issue 2, February 2017, Pages: 184–203, Samantha Conroy, Christine A. Henle, Lynn Shore and Samantha Stelman

    Version of Record online : 27 NOV 2016, DOI: 10.1002/job.2164

  17. You have full text access to this OnlineOpen article
    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics & Genomic Medicine

    Volume 5, Issue 1, January 2017, Pages: 28–39, Jose A. Caparros-Martin, Mona S. Aglan, Samia Temtamy, Ghada A. Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M. Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y. Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E. Heath, Pablo Lapunzina and Victor L. Ruiz-Perez

    Version of Record online : 20 DEC 2016, DOI: 10.1002/mgg3.257

  18. You have full text access to this OnlineOpen article
    Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother

    Clinical Case Reports

    Volume 5, Issue 4, April 2017, Pages: 431–434, Kirsten A. Wood, Regina M. Zambrano, Bradley J. Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C. Hyland and Yves Lacassie

    Version of Record online : 24 FEB 2017, DOI: 10.1002/ccr3.835

  19. A Bibliometric Review of Open Innovation: Setting a Research Agenda

    Journal of Product Innovation Management

    Volume 33, Issue 6, November 2016, Pages: 750–772, Krithika Randhawa, Ralf Wilden and Jan Hohberger

    Version of Record online : 2 MAR 2016, DOI: 10.1111/jpim.12312

  20. You have free access to this content
    Bone Material Properties in Osteogenesis Imperfecta

    Journal of Bone and Mineral Research

    Volume 31, Issue 4, April 2016, Pages: 699–708, Nick Bishop

    Version of Record online : 26 MAR 2016, DOI: 10.1002/jbmr.2835