Skip Navigation

Osteogenesis Imperfecta (OI): Scientific Articles

Skip sharing on social media links

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.

PubMed Search Results

Use the links below to search the PubMed database of more than 20 million citations for scientific articles.

BOND National Institues of Health Home Home Division of Intramural Population Health Research