1. Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL 1986 Osteogenesis type III: Delineation of phenotype with reference to genetic heterogeneity. Am J Med Genet 21:821.
2. Sillence DO, Senn A, Danks DM 1979 Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101-116.
3. Kuivaniemi H, Tromp G, 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. Hum Mut 9: 300-315.
4. Sillence DO 1981 Osteogenesis imperfecta: An expanding panorama of variants. Clin Ortho Rel Res 159:11-25.
5. Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL 1984 Osteogenesis imperfecta type II: Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17:407.
6. Levin LS, Salinas CF, Jorenson RJ 1978 Classification of osteogenesis imperfecta by dental characteristics. Lancet 1:332.
7. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ 2000 Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Miner Res 15: 1650-8.
8. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R 2002 Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect. J Bone Miner Res 17: 30-8.
9. Sillence D, Butler B, Latham M, Barlow K 1993 Natural history of blue sclerae in osteogenesis imperfecta. Am J Med Genet 45: 183-6.
10. Marini JC, Bordenick S, Heavner G, Rose S, Chrousos GP 1993 Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta. Am J Med Genet 45: 261-4.
11. Garretsen AJ, Cremers CW, Hugen PL 1997 Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. Ann Otol Rhinol Laryngol 106: 575-582.
12. Kuurila K, Grenman R, Johnasson R, Kaitila I 2000 Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr 159: 515-9.
13. Pedersen U 1984 Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients. Scand Audiol 13: 67-74.
14. Charnas LR, Marini JC 1993 Communicating hydrocephalus, basilar invagination and other neurologic features in osteogenesis imperfecta. Neurology 43: 2603-2608.
15. Willing MC, Pruchno CJ, Byers PH 1993 Molecular heterogeneity in osteogenesis imperfecta type I. Am J Med Genet 45: 223-227.
16. Prockop DJ 1997 What holds us together? Why do some of us fall apart? What can we do about it? Matrix Biol 16: 519-528.
17. Marini JC, Lewis MB, Wang Q, Chen KJ, Orrison BM 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta. J Biol Chem 268: 2667-2673.
18. Dalgleish R 1997 The human type I collagen mutation database. Nuc Acids Res 25: 181-187.
19. Dalgleish R 1998 The human collagen mutation database 1998 Nuc Acids Res 26: 253-255.
20. Forlino A, Porter FD, Lee EJ, Westphal H, Marini JC 1999 Use of the cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an a1(I) G349C substitution: Variability in phenotype in BrtlIV mice. J Biol Chem 274: 37923-37931.
21. Chipman SD, Sweet HO, McBride DJ, Davisson MT, Marks SC, Shuldiner AR, Wenstrup RJ, Rowe DW, Shapiro JR 1993 Defective proa2(I) collagen synthesis in a recessive mutation in mice: A model of human osteogenesis imperfecta. Proc Natl Acad Sci USA 90: 1701-1705.
22. Pepin M, Atkinson M, Starman BJ, Byers PH 1997 Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: A review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 17:559-570.
23. Thompson EM 1993 Non-invasive prenatal diagnosis of osteogenesis imperfecta. Am J Med Genet 45: 201-206.
24. Gerber LH, Binder H, Weintrob J, Grange DK, Shapiro J, Fromherz WF, Berry R, Conway A, Nason S, Marini JC 1990 Rehabilitation of children and infants with osteogenesis imperfecta. A program for ambulation. Clin Ortho Rel Res 251: 254-262.
25. Marini JC and Gerber NL 1997 Osteogenesis imperfecta: Rehabilitation and prospects for gene therapy. JAMA 277: 746-750.
26. Zionts LE, Edward A, Stott NS 1998 Complications in the use of Bailey-Dubow extensible nail. Clin Ortho Rel Res 348: 186-195.
27. Englebert RH, Gerver WJ, Breslau-Siderius LJ 1998 Spinal complications in osteogenesis imperfecta: 47 patients 1-16 years of age. Acta Orthop Scand 69: 283-6.
28. Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R 1998 Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339: 947-52.
29. Plotkin H, Rauch F, Bishop NJ, Montpetit K, Ruck-Gibis J, Travers R, Glorieux FH 2000 Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab 85: 1846-50.
30. Dawson PA, Marini JC (2000) Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. Nuc Acids Res 28(20): 4013-4020.
31. Horwitz EM, Prockop DJ, Fitzpatrick LA, Koo WWK, Gordon PL, Neel M, Sussman M, Orchard P, Marx JC, Pyeritz RE, Brenner MK 1999 Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 5: 309-313.