A Sample of  Published Works 
by Members of the OI Foundation's
Medical Advisory Council

Members of the OI Foundation's Medical Advisory Council frequently publish articles in scientific and medical journals. Many of them also participate in related book projects as chapter authors and editors. Their articles include reports on clinical research, basic scientific research and summaries of conferences. The following is a sample of recent publications related to osteogenesis imperfecta. This is not an all inclusive bibliography, but a sample of the work of the OI Foundation's Medical Advisory Council Members.

A longer bibliography of scientific articles related to osteogenesis imperfecta is jointly maintained by the OI Foundation and the National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center. It can viewed at www.osteo.org/research.asp.

Most of the citations on this list have an abstract that is available on-line. To read the abstract for an article, go to the National Library of Medicine web site, www.nlm.nih.gov. Click on MEDLINE/PubMed. In the "Search For" box at the top of the next page, enter the PubMed ID number (PMID) listed at the end of each entry in this bibliography. Click on "Go" to view the abstract.


Peter Byers, M.D.

Byers PH, Cole WJ.
Osteogenesis Imperfecta: in Connective Tissue and Its Heritable Disorders: Molecular,
Genetic and Medical Aspects. Ed. By P. Royce and B. Steinmann. 2nd Edition. Wylie.
(2002) pp. 385-430.

Johnson MT, Morrison S, Heeger S, Mooney S, Byers PH, Robin NH.
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a
novel COL1A2 mutation. J Med Genet. 39: 128-32, 2002. PMID: 11836364.

Marlowe A, Pepin MG, Byers PH.
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med
Genet. 39: 382-386, 2002. PMID: 12070242.

Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH.
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the
proalpha 1 (I) chain of type I collagen results in a lethal variant of osteogenesis
imperfecta with features of dense bone diseases.
J Med Genet. 39: 23-9, 2002. PMID: 11826020.

Sakai LY, Byers PH, Ramirez F.
A report on the 3rd workshop on heritable disorders of connective tissue. Matrix Biol.
21: 7-13, 2002. PMID: 11827787.

Cubert R, Cheng EY, Mack S, Pepin MG, Byers PH.
Osteogenesis imperfecta: mode of delivery and neonatal outcome.
Obstet Gynecol. 97: 66-9, 2001. PMID: 11106283.

Byers PH.
Osteogenesis imperfecta: perspectives and opportunities.
Curr Opin Pediatr. 12: 603-9, 2000. PMID: 11152910.

Byers PH, Schwarze U, Pace J, Kuslich C, Pepin M, Valiente E, Atkinson M.
Osteogenesis imperfecta: classification, molecular abnormalities, phenotype-genotype
relationships, and implications for treatment: in TAKO-centre Resource Centre for Oral
Health in Rare Medical Conditions OI-consensus conference, 17th and 18th November,
1999, Sormarka, Norway. Ed. By K. Storhaug. (2002) pp. 21-36.

Lynn Gerber, M.D.

Suskauer SJ, Cintas HL, Marini JC, Gerber LH.
Temperament and physical performance in children with osteogenesis imperfecta.
Pediatrics. 111: E153-61, 2003. PMID: 12563089.

Cintas HL, Siegel KL, Furst GP, Gerber LH.
Brief assessment of motor function: reliability and concurrent validity of the Gross Motor
Scale. Am J Phys Med Rehabil. 82: 33-41, 2003.  PMID: 12510183.

O'Connell PG, Lohmann Siegel K, Kepple TM, Stanhope SJ, Gerber LH.
Forefoot deformity, pain, and mobility in rheumatoid and nonarthritic subjects.
J Rheumatol. 25: 1681-6, 1998. PMID: 9733446.

Gerber LH, Binder H, Berry R, Siegel KL, Kim H, Weintrob J, Lee YJ, Mizell S, Marini J.
Effects of withdrawal of bracing in matched pairs of children with osteogenesis
imperfecta. Arch Phys Med Rehabil. 79: 46-51, 1998. PMID: 9440417.

Francis Glorieux, M.D., Ph.D

Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R.
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization
defect. J Bone Miner Res. 17: 30-8, 2002. PMID: 11771667.

Rauch F, Travers R, Plotkin H, Glorieux FH.
The effects of intravenous pamidronate on the bone tissue of children and adolescents
with osteogenesis imperfecta. J Clin Invest. 110: 1293-1299, 2002. PMID: 12417568.

Glorieux, FH.
The use of bisphosphonates in children with osteogenesis imperfecta.
J Pediatr Endocrinol Metab. 14: 1491-5, 2001. PMID: 11837505.

Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF,
Fassier F, Bishop NJ.
Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res.
15: 1650-8, 2000. PMID: 10976985.

Plotkin H, Rauch F, Bishop NJ, Montpetit K, Ruck-Gibis J, Travers R, Glorieux FH.
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of
age. J Clin Endocrinol Metab. 85: 1846-50, 2000. PMID: 10843163.

Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R.
Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.
N Engl J Med. 339: 947-52, 1998. PMID: 9753709.

Deborah Krakow, M.D.

Krakow  D, Santulli T, Platt LD.
Use of three-dimensional ultrasonography in differentiating craniosynostosis from severe
fetal molding. J Ultrasound Med. 20: 427-31, 2001.  PMID: 11316322.

Joan Marini, M.D., Ph.D.

Marini JC, Hopkins E, Glorieux FH, Chrousos GP, Reynolds JC, Gundberg CM,
Reing CM.
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. J Bone Miner Res. 18: 237-43, 2003.

Vieira NE, Goans RE, Weiss GH, Hopkins E, Marini JC, Yergey AL.
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-
growth hormone therapy. Calcif Tissue Int. 67: 97-100, 2000. PMID:  10920211.

Dawson PA, Marini JC.
Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in
osteogenesis imperfecta fibroblasts. Nucleic Acids Res. 15: 4013-20, 2000.
PMID:  11024182.

Forlino A, Marini JC.
Osteogenesis imperfecta: prospects for molecular therapeutics. Mol Genet Metab.
71: 225-32, 2000. PMID: 11001814.

O'Connell AC, Marini JC.
Evaluation of oral problems in an osteogenesis imperfecta population. Oral Surg Oral
Med Oral Pathol Oral Radio Endod. 87: 189-96, 1999. PMID:  10052375.

Charnas LR, Marini JC.
Communicating hydrocephalus, basilar invagination and other neurologic features in
osteogenesis imperfecta. Neurology. 43: 2603-2608, 1993. PMID: 8255464.

Darwin Prockop, M.D., Ph.D.

Prokop, D.
Adult stem cells gradually come of age.
Nat Biotechnol. 20: 791-2, 2002. PMID: 12148006.

Leon Root, M.D.

Widmann RF, Laplaza FJ, Bitan FD, Brooks CE, Root L.
Quality of life in osteogenesis imperfecta.
Int Orthop. 26: 3-6, 2002. PMID: 11954845.

Comacho NP, Raggio CL, Doty SB, Root L, Zraick V, Ilg Wa, Toledano TR, Boskey AL.
A controlled study of the effects of alendronate in a growing mouse model of
osteogenesis imperfecta. Calcif Tissue Int. 69: 94-101, 2001. PMID: 11683430.

David Rowe, M.D.

Rowe D.
Osteogenesis Imperfecta: in Principles of Bone Biology. Ed. by J. Bilezikian, L. Raisz,
and G. Rodan.  Academic Press. (2002) Chapter 66, pp 1177-1193.

Kalajzic I, Terzic J, Rumboldt Z, Mack K, Naprta A, Ledgard F, Gronowicz G, Clark SH,
Rowe DW.
Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine
(oim) mouse. Endocrinology. 143: 1594-601, 2002. PMID: 11956140.

Rowe D, Lichtler A. 
A strategy for identifying osteoporosis risk genes. Endocrine. 17: 67-75, 2002. PMID:

Primorac D, Rowe DW, Mottes M, Barisic I, Anticevic D, Mirandola S, Gomez Lira M,
Kalajzic I, Kusec V, Glorieux FH. 
Osteogenesis imperfecta at the beginning of bone and joint decade. Croat Med J. 42:
393-415, 2001. PMID: 11471191.

Jay Shapiro, M.D.

Shapiro JR, McCarthy EF, Rossiter K, Ernest K, Gelman R, Fedarko N, Santiago HT,
Bober, M.
The effect of intravenous pamidronate on bone mineral density, bone histomorphometry
and parameters of bone turnover in adults with type IA osteogenesis imperfecta. Calcified
Tissue International. 27:103-12, 2003. PMID: 12457260.

Shapiro JR.
Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional
Causes of Adult Osteoporosis: in Osteoporosis. Ed. by R. Marcus, D. Feldman, and J.
Kelsy.  Eds. (2001).

Peter Smith, M.D.

Smith, P.
Preparing Families for Treatment and Surgery: in Growing Up with OI: A Guide for
Families and Caregivers. Ed. by E. Dollar. Osteogenesis Imperfecta Foundation. (2001)
Chapter 5 pp.67-76.

David Vernick, M.D.

Lustig LR, Arts HA, Brackmann, DE, Francis HF, Molony T, Megerian CA, Moore GF,
Moore KM, Morrow T, Potsic W, Rubenstein JT, Srieddy S, Syms CA, Takahashi G,
Vernick D, Wackym PA, Niparko JK.
Hearing rehabilitation using the BAHA bone-anchored hearing aid: results in 40 patients.
Otol Neurotol. 22: 328-34, 2001. PMID: 11347635.

Priscilla Wacaster, M.D.

Wacaster, P.
First Aid: in Growing Up with OI: A Guide for Families and Caregivers. Ed. By E.Dollar.
Osteogenesis Imperfecta Foundation. (2001) Chapter 2 pp.23-38.

Wacaster, P.
Ask the Doctor: Osteogenesis Imperfecta. Exceptional Parent. 30: 94-101, April 2000.

Wacaster, P.
Welcome to Osteogenesis Imperfecta: in Managing Osteogenesis Imperfecta: A Medical
Manual. Ed. By P. Wacaster. Osteogenesis Imperfecta Foundation. (1996) Chapter 1 pp.

Michael Whyte, M.D.

Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister W, Mumm S.
Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 347:175-84, 2002.
PMID: 12124406.

Whyte MP.
Hereditary Metabolic and Dysplastic Skeletal Disorders: in Disorders of Bone and Mineral
Metabolism. 2nd ed. Ed. By F. Coe, M. Favus. Lippincott, Williams & Wilkins. (2002) pp.

Whyte MP.
Osteogenesis Imperfecta. Medicine. 29:79-80, 2001.

Reimus WR, McAlister WH, Schranck F, Chines A, Whyte MP.
Differing lumbar vertebral mineralization rates in ambulatory pediatric patients with
osteogenesis imperfecta. Calcif Tissue Int. 62:17-20, 1998. PMID: 9405727.

CFClogo Medical Research Charities logo nhc logo nord-member-org.300x100.png Medical Research Charities logo Medical Research Charities logo