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References

  • 1
    Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004; 363:137785.
  • 2
    Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011; 7:54057.
  • 3
    Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Korkko J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007; 28:20921.
  • 4
    Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, Roberts EJ. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet. 1994; 55:63847.
  • 5
    Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest. 2002; 109:36.
  • 6
    Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res. 1997; 25:1817.
  • 7
    Dalgleish R. The human collagen mutation database 1998. Nucleic Acids Res. 1998; 26:2535.
  • 8
    Rauch F, Lalic L, Roughley P, Glorieux FH. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 2010; 25:136774.
  • 9
    Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16:10116.
  • 10
    Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet. 1998; 62:98110.
  • 11
    Ogden CL, Kuczmarski RJ, Flegal KM, Mei Z, Guo S, Wei R, Grummer-Strawn LM, Curtin LR, Roche AF, Johnson CL. Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977. National Center for Health Statistics version. Pediatrics. 2002; 109:4560.
  • 12
    Salle BL, Braillon P, Glorieux FH, Brunet J, Cavero E, Meunier PJ. Lumbar bone mineral content measured by dual energy X-ray absorptiometry in newborns and infants. Acta Paediatr. 1992; 81:9538.
  • 13
    Keynan O, Fisher CG, Vaccaro A, Fehlings MG, Oner FC, Dietz J, Kwon B, Rampersaud R, Bono C, France J, Dvorak M. Radiographic measurement parameters in thoracolumbar fractures: a systematic review and consensus statement of the spine trauma study group. Spine (Phila Pa 1976). 2006; 31:E15665.
  • 14
    Genant HK, Wu CY, van Kuijk C, Nevitt MC. Vertebral fracture assessment using a semiquantitative technique. J Bone Miner Res. 1993; 8:113748.
  • 15
    Keats TE, Smith TH. An atlas of normal developmental anatomy. Chicago: Year Book of Medical Publishers; 1977.
  • 16
    Gaca AM, Barnhart HX. Bisset GS 3rd. Evaluation of wedging of lower thoracic and upper lumbar vertebral bodies in the pediatric population. AJR Am J Roentgenol. 2010; 194:51620.
  • 17
    Minne HW, Leidig G, Wuster C, Siromachkostov L, Baldauf G, Bickel R, Sauer P, Lojen M, Ziegler R. A newly developed spine deformity index (SDI) to quantitate vertebral crush fractures in patients with osteoporosis. Bone Miner. 1988; 3:33549.
  • 18
    Crans GG, Genant HK, Krege JH. Prognostic utility of a semiquantitative spinal deformity index. Bone. 2005; 37:1759.
  • 19
    Kerkeni S, Kolta S, Fechtenbaum J, Roux C. Spinal deformity index (SDI) is a good predictor of incident vertebral fractures. Osteoporos Int. 2009; 20:154752.
  • 20
    Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord. 2008; 9:15360.
  • 21
    Lund AM, Muller J, Skovby F. Anthropometry of patients with osteogenesis imperfecta. Arch Dis Child. 1999; 80:5248.
  • 22
    Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 2010; 18:6427.
  • 23
    Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. Pediatrics. 2003; 111:10306.
  • 24
    Cooper C, Dennison EM, Leufkens HG, Bishop N, van Staa TP. Epidemiology of childhood fractures in Britain: a study using the general practice research database. J Bone Miner Res. 2004; 19:197681.
  • 25
    Land C, Rauch F, Montpetit K, Ruck-Gibis J, Glorieux FH. Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta. J Pediatr. 2006; 148:45660.
  • 26
    Land C, Rauch F, Munns CF, Sahebjam S, Glorieux FH. Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment. Bone. 2006; 39:9016.
  • 27
    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. Calcif Tissue Int. 2003 Feb; 72(2):10312.
  • 28
    Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, Garnero P, Arlot M, Raynal C, Meunier PJ. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res. 2006; 21:3006.
  • 29
    Halton J, Gaboury I, Grant R, Alos N, Cummings EA, Matzinger M, Shenouda N, Lentle B, Abish S, Atkinson S, Cairney E, Dix D, Israels S, Stephure D, Wilson B, Hay J, Moher D, Rauch F, Siminoski K, Ward LM. Advanced vertebral fracture among newly diagnosed children with acute lymphoblastic leukemia: results of the Canadian Steroid-Associated Osteoporosis in the Pediatric Population (STOPP) research program. J Bone Miner Res. 2009; 24:132634.
  • 30
    Huber AM, Gaboury I, Cabral DA, Lang B, Ni A, Stephure D, Taback S, Dent P, Ellsworth J, LeBlanc C, Saint-Cyr C, Scuccimarri R, Hay J, Lentle B, Matzinger M, Shenouda N, Moher D, Rauch F, Siminoski K, Ward LM. Prevalent vertebral fractures among children initiating glucocorticoid therapy for the treatment of rheumatic disorders. Arthritis Care Res (Hoboken). 2010; 62:51626.
  • 31
    Ismail AA, Cooper C, Felsenberg D, Varlow J, Kanis JA, Silman AJ, O'Neill TW. Number and type of vertebral deformities: epidemiological characteristics and relation to back pain and height loss. European Vertebral Osteoporosis Study Group. Osteoporos Int. 1999; 9:20613.
  • 32
    Jackson SA, Tenenhouse A, Robertson L. Vertebral fracture definition from population-based data: preliminary results from the Canadian Multicenter Osteoporosis Study (CaMos). Osteoporos Int. 2000; 11:6807.
  • 33
    Roach JW. Adolescent idiopathic scoliosis. Orthop Clin North Am. 1999; 30:35365 vii–viii.
  • 34
    Ishikawa S, Kumar SJ, Takahashi HE, Homma M. Vertebral body shape as a predictor of spinal deformity in osteogenesis imperfecta. J Bone Joint Surg Am. 1996; 78:2129.
  • 35
    Engelbert RH, Gerver WJ, Breslau-Siderius LJ, van der Graaf Y, Pruijs HE, van Doorne JM, Beemer FA, Helders PJ. Spinal complications in osteogenesis imperfecta: 47 patients 1–16 years of age. Acta Orthop Scand. 1998; 69:2836.