1. Sillence, DO, et al. 1986 Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 23(3): 821-32.

2. Sillence, DO, Senn, A, and Danks, DM 1979 Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics 16: 101-116.

3. Kuivaniemi, H, Tromp, G, and Prockop, DJ 1997 Mutations in fibrillar collagens (Types I, II, III, and XI), fibril-associated collagen (Type IX), and network-forming collagen (Type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Human Mutation 9: 300-315.

4. Sillence, DO 1981 Osteogenesis imperfecta: An expanding panorama of variants. Clinical Orthopaedics and Related Research 159: 11-25.

5. Sillence, DO, et al. 1984 Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17(2): 407-23.

6. Levin, LS, Salinas, CF, and Jorgenson, RJ 1978 Classification of osteogenesis imperfecta by dental characteristics. Lancet 1(8059): 332-3.

7. Glorieux, FH, et al. 2000 Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 15(9): 1650-8.

8. Glorieux, FH, et al. 2002 Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect. Journal of Bone and Mineral Research 17(1): 30-38.

9. Sillence, DO, et al. 1993 Natural history of blue sclerae in osteogenesis imperfecta. American Journal of Medical Genetics 45: 183-186.

10. Marini, JC, et al. 1993 Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta. Am J Med Genet 45(2): 261-4.

11. Garretsen, AJTM, Cremers, CWRJ, and Huygen, PLM 1997 Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. Annals of Otology, Rhinology, and Laryngology 106: 575-582.

12. Kuurila, K, et al. 2000 Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr 159(7): 515-9.

13. Letocha, AD, et al. Hearing loss in children with types III and IV OI: Incidence, progression and correlation with collagen mutations. 8th International Osteogenesis Imperfecta Conference. 2002. Annecy, France.

14. Pedersen, U 1984 Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients. Scand Audiol 13(2): 67-74.

15. Streubel, S-O and Lustig, LR 2005 Cochlear implantation in patients with osteogenesis imperfecta. Otolaryngology Head and Neck Surgery 132: 735-740.

16. Charnas, LR and Marini, JC 1993 Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurology 43: 2603-2608.

17. Prockop, DJ 1997 What holds us together? Why do some of us fall apart? What can we do about it? Matrix Biology 16: 519-528.

18. Marini, JC, et al. Consortium for osteogenesis imperfecta mutations: Lethal regions in the helical portion of type I collagen chains align with collagen binding sites for integrin and proteoglycan. 9th International Conference on Osteogenesis Imperfecta. 2005. Annapolis, MD.

19. Marini, JC, et al. 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. J Biol Chem 268(4): 2667-73.

20. Dalgleish, R 1997 The human type I collagen mutation database. Nucleic Acids Research 25(1): 181-187.

21. Dalgleish, R 1998 The Human Collagen Mutation Database 1998. Nucleic Acids Research 26(1): 253-255.

22. Forlino, A, et al. 1999 Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem 274(53): 37923-31.

23. Chipman, SD, et al. 1993 Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci U S A 90(5): 1701-5.

24. Kuurila, K, et al. 2000 Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr 159(7): 515-9.

25. Pepin, M, et al. 1997 Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 17(6): 559-70.

26. Thompson, EM 1993 Non-invasive prenatal diagnosis of osteogenesis imperfecta. American Journal of Medical Genetics 45: 201-206.

27. Gerber, LH, et al. 1990 Rehabilitation of children and infants with osteogenesis imperfecta. A program for ambulation. Clin Orthop (251): 254-62.

28. Marini, JC and Gerber, LH 1997 Osteogenesis imperfecta: Rehabilitation and prospects for gene therapy. JAMA 277(9): 746-750.

29. Zionts, LE, Ebramzadeh, E, and Stott, NS 1998 Complications in the use of the Bailey-Dubow extensible nail. Clinical Orthopaedics and Related Research 348: 186-195.

30. Fassier, F. Experience with the Fassier-Duval rod: Effectiveness and complications. 9th International Conference on Osteogenesis Imperfecta. 2005. Annapolis, MD, USA.

31. Engelbert, RH, et al. 1998 Spinal complications in osteogenesis imperfecta: 47 patients 1-16 years of age. Acta Orthop Scand 69(3): 283-6.

32. Letocha, AD, et al. 2005 Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. Journal of Bone and Mineral Research 20(6): 977-986.

33. Sakkers, R, et al. 2004 Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet 363(9419): 1427-31.

34. Glorieux, FH, et al. Alendronate in the treatment of pediatric osteogenesis imperfecta. 26th Annual Meeting of the American Society for Bone and Mineral Research. 2004. Seattle, WA.

35. Glorieux, FH, et al. 1998 Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339(14): 947-52.

36. Plotkin, H, et al. 2000 Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab 85(5): 1846-50.

37. Marini, JC, et al. 2003 Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: High predictive value of the carboxyterminal propeptide of type I procollagen. Journal of Bone and Mineral Research 18(2): 237-243.

38. Dawson, PA and Marini, JC 2000 Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. Nucleic Acids Research 28(20): 4013-4020.

39. Horwitz, EM, et al. 1999 Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 5(3): 309-13.

40. Cabral, WA and Marini, JC 2004 High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet 74(4): 752-60.