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Osteogenesis Imperfecta (OI): Scientific Articles

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Featured Articles

The following featured articles include those from NICHD researchers or NICHD-supported researchers.

  • Greeley, C. S., Donaruma-Kwoh, M., Vettimattam, M., Willard, C., & Mazur, L. (2013). Fractures at diagnosis in infants and children with osteogenesis imperfect. Journal of Pediatric Orthopedics, 33(1), 32–36. PMID: 23232376
  • Marini, J. C., & Blissett, A. R. (2013). New genes in bone development: What’s new in osteogenesis imperfect. Journal of Clinical Endocrinology and Metabolism , 98(8), 3095–3103. PMID: 23771926
  • Sinder, B. P., Eddy, M. M., Ominsky, M. S., Caird, M. S., Marini, J. C. & Kozloff, K. M. (2013). Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta. Journal of Bone and Mineral Research, 28(1), 73–80. PMID: 22836659
  • Cabral, W. A., Barnes, A. M., Adeyemo, A., Cushing, K., Chitavat, D., Porter, F. D. et al. (2012). A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genetics in Medicine, 14(5), 543–551. PMID: 22281939
  • Davis, M. S., Kovacic, B. L., Marini, J. C., Shih, A. J., & Kozloff, K. M. (2012). Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta. Bone, 50(3), 784–791. PMID: 22207275
  • Gioia, R., Panaroni, C., Besio, R., Palladini, G., Merlini, G., Giansanti, V., et al. (2012). Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: A new target for osteogenesis imperfecta pharmacological therapy. Stem Cells, 30(7), 1465–1476. PMID: 22511244
  • Marini, J. C., & Forlino, A. (2012). Replenishing cartilage from endogenous stem cells. New England Journal of Medicine, 366(26), 2522–2524. PMID: 22738103
  • Takagi, M., Ishii, T., Barnes, A. M., Weis, M., Amano, N., Tanaka, M., et al. (2012). A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. PLoS One, 7(5), e36809. PMID: 22615817
  • Valli M., Barnes, A. M., Gallanti, A., Cabral, W. A., Viglio, S., Weis, M. A., et al. (2012). Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. Clinical Genetics, 82(5), 453–459. PMID: 21955071
  • Forlino, A., Cabral, W. A., Barnes, A. M., & Marini, J. C. (2011). New perspectives on osteogenesis imperfecta. Nature Reviews Endocrinology, 7(9), 540–557. PMID: 21670757
  • Barnes A. M., Carter, E. M., Cabral, W. A., Weis, M., Chang, W., Makareeva, E., et al. (2010). Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. New England Journal of Medicine, 363(1), 521–528. PMID: 20089953
  • Gentry B. A., Ferreira, J. A., McCambridge, A. J., Brown, M., & Phillips, C. L. (2010). Skeletal muscle weakness in osteogenesis imperfecta mice. Matrix Biology, 29(7), 638–644. PMID: 20619344
  • Marini, J. (2010). Osteogenesis imperfecta. In F. Singer (Ed.), Diseases of Bone and Calcium Metabolism. Online at http://www.endotext.org/chapter/osteogenesis-imperfecta/ External Web Site Policy (Free Registration Required)
  • Marini, J. C., Letocha, A. D., & Chernoff, E. J. (2005). Osteogenesis imperfecta. In S. B. Cassidy & J.E. Allanson (Eds.), Management of Genetic Syndromes. Hoboken, NJ: Wiley.

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Last Updated Date: 03/06/2014
Last Reviewed Date: 12/16/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology